Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study.
Nuovo S, Micalizzi A, Romaniello R, Arrigoni F, Ginevrino M, Casella A, Serpieri V, D’Arrigo S, Briguglio M, Salerno GG, Rossato S, Sartori S, Leuzzi V, Battini R, Ben-Zeev B, Graziano C, Mirabelli Badenier M, Brankovic V, Nardocci N, Spiegel R, Petković Ramadža D, Vento G, Marti I, Simonati A, Dipresa S, Freri E, Mazza T, Bassi MT, Bosco L, Travaglini L, Zanni G, Bertini ES, Vanacore N, Borgatti R, Valente EM.
J Med Genet. 2022 Apr;59(4):399-409. doi: 10.1136/jmedgenet-2020-107497. Epub 2021 Mar 5.
PMID: 34085948
Non-motor symptoms in spasmodic dysphonia: A case control-study.
Vilaseca I, Hidalgo J, Cámara A, Compta Y, Martí MJ.
Auris Nasus Larynx. 2022 Feb;49(1):100-105. doi: 10.1016/j.anl.2021.05.004. Epub 2021 Jun 4.
PMID: 34092434
Spinocerebellar Ataxia Type 1: One-Year Longitudinal Study to Identify Clinical and MRI Measures of Disease Progression in Patients and Presymptomatic Carriers.
Nigri A, Sarro L, Mongelli A, Castaldo A, Porcu L, Pinardi C, Grisoli M, Ferraro S, Canafoglia L, Visani E, Bruzzone MG, Nanetti L, Taroni F, Mariotti C.
Cerebellum. 2022 Feb;21(1):133-144. doi: 10.1007/s12311-021-01285-0. Epub 2021 Jun 9.
PMID: 34106418
Comparison of clinical rating scales in genetic frontotemporal dementia within the GENFI cohort.
Peakman G, Russell LL, Convery RS, Nicholas JM, Van Swieten JC, Jiskoot LC, Moreno F, Sanchez-Valle R, Laforce R, Graff C, Masellis M, Tartaglia MC, Rowe JB, Borroni B, Finger E, Synofzik M, Galimberti D, Vandenberghe R, de Mendonça A, Butler CR, Gerhard A, Ducharme S, Le Ber I, Tagliavini F, Santana I, Pasquier F, Levin J, Danek A, Otto M, Sorbi S, Rohrer JD; Genetic FTD Initiative (GENFI).
J Neurol Neurosurg Psychiatry. 2022 Feb;93(2):158-168. doi: 10.1136/jnnp-2021-326868. Epub 2021 Aug 5.
PMID: 34353857 Free PMC article.
Neurofilament light chain and glial fibrillary acidic protein levels in metachromatic leukodystrophy.
Beerepoot S, Heijst H, Roos B, Wamelink MMC, Boelens JJ, Lindemans CA, van Hasselt PM, Jacobs EH, van der Knaap MS, Teunissen CE, Wolf NI.
Brain. 2022 Mar 29;145(1):105-118. doi: 10.1093/brain/awab304.
PMID: 34398223 Free PMC article.
Practice effects in genetic frontotemporal dementia and at-risk individuals: a GENFI study.
Öijerstedt L, Andersson C, Jelic V, van Swieten JC, Jiskoot LC, Seelaar H, Borroni B, Sanchez-Valle R, Moreno F, Laforce R Jr, Synofzik M, Galimberti D, Rowe JB, Masellis M, Tartaglia MC, Finger E, Vandenberghe R, de Mendonca A, Tagliavini F, Santana I, Ducharme S, Butler CR, Gerhard A, Levin J, Danek A, Otto M, Frisoni G, Ghidoni R, Sorbi S, Rohrer JD, Graff C; Genetic Frontotemporal Dementia Initiative (GENFI).
J Neurol Neurosurg Psychiatry. 2022 Mar;93(3):336-339. doi: 10.1136/jnnp-2021-327005. Epub 2021 Aug 18.
PMID: 34408008 Free PMC article. No abstract available.
Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset.
Mirza-Schreiber N, Zech M, Wilson R, Brunet T, Wagner M, Jech R, Boesch S, Škorvánek M, Necpál J, Weise D, Weber S, Mollenhauer B, Trenkwalder C, Maier EM, Borggraefe I, Vill K, Hackenberg A, Pilshofer V, Kotzaeridou U, Schwaibold EMC, Hoefele J, Waldenberger M, Gieger C, Peters A, Meitinger T, Schormair B, Winkelmann J, Oexle K.
Brain. 2022 Apr 18;145(2):644-654. doi: 10.1093/brain/awab360.
PMID: 34590685
A data-driven disease progression model of fluid biomarkers in genetic frontotemporal dementia.
van der Ende EL, Bron EE, Poos JM, Jiskoot LC, Panman JL, Papma JM, Meeter LH, Dopper EGP, Wilke C, Synofzik M, Heller C, Swift IJ, Sogorb-Esteve A, Bouzigues A, Borroni B, Sanchez-Valle R, Moreno F, Graff C, Laforce R, Galimberti D, Masellis M, Tartaglia MC, Finger E, Vandenberghe R, Rowe JB, de Mendonça A, Tagliavini F, Santana I, Ducharme S, Butler CR, Gerhard A, Levin J, Danek A, Otto M, Pijnenburg YAL, Sorbi S, Zetterberg H, Niessen WJ, Rohrer JD, Klein S, van Swieten JC, Venkatraghavan V, Seelaar H; GENFI consortium.
Brain. 2022 Jun 3;145(5):1805-1817. doi: 10.1093/brain/awab382.
PMID: 34633446 Free PMC article.
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.
Serpieri V, D’Abrusco F, Dempsey JC, Cheng YH, Arrigoni F, Baker J, Battini R, Bertini ES, Borgatti R, Christman AK, Curry C, D’Arrigo S, Fluss J, Freilinger M, Gana S, Ishak GE, Leuzzi V, Loucks H, Manti F, Mendelsohn N, Merlini L, Miller CV, Muhammad A, Nuovo S, Romaniello R, Schmidt W, Signorini S, Siliquini S, Szczałuba K, Vasco G, Wilson M, Zanni G, Boltshauser E, Doherty D, Valente EM; University of Washington Center for Mendelian Genomics (UW-CMG) group.
J Med Genet. 2022 Sep;59(9):888-894. doi: 10.1136/jmedgenet-2021-108114. Epub 2021 Oct 21.
PMID: 34675124 Free PMC article.
Characterization of Lifestyle in Spinocerebellar Ataxia Type 3 and Association with Disease Severity.
Hengel H, Martus P, Faber J, Garcia-Moreno H, Solanky N, Giunti P, Klockgether T, Reetz K, van de Warrenburg BP, Pereira de Almeida L, Santana MM, Januário C, Silva P, Thieme A, Infante J, de Vries J, Lima M, Ferreira AF, Bushara K, Jacobi H, Onyike C, Schmahmann JD, Hübener-Schmid J, Synofzik M, Schöls L.
Mov Disord. 2022 Feb;37(2):405-410. doi: 10.1002/mds.28844. Epub 2021 Oct 29.
PMID: 34713931
Stratifying the Presymptomatic Phase of Genetic Frontotemporal Dementia by Serum NfL and pNfH: A Longitudinal Multicentre Study.
Wilke C, Reich S, van Swieten JC, Borroni B, Sanchez-Valle R, Moreno F, Laforce R, Graff C, Galimberti D, Rowe JB, Masellis M, Tartaglia MC, Finger E, Vandenberghe R, de Mendonça A, Tagliavini F, Santana I, Ducharme S, Butler CR, Gerhard A, Levin J, Danek A, Otto M, Frisoni G, Ghidoni R, Sorbi S, Bocchetta M, Todd E, Kuhle J, Barro C; Genetic Frontotemporal dementia Initiative (GENFI); Rohrer JD, Synofzik M.
Ann Neurol. 2022 Jan;91(1):33-47. doi: 10.1002/ana.26265. Epub 2021 Nov 29.
PMID: 34743360
Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordance.
Nuovo S, Baglioni V, De Mori R, Tardivo S, Caputi C, Ginevrino M, Micalizzi A, Masuelli L, Federici G, Casella A, Lorefice E, Anello D, Tolve M, Farini D, Bertini E, Zanni G, Travaglini L, Vasco G, Sette C, Carducci C, Valente EM, Leuzzi V.
Hum Mutat. 2022 Jan;43(1):67-73. doi: 10.1002/humu.24293. Epub 2021 Nov 15.
PMID: 34747546
Instrumented gait analysis defines the walking signature of CACNA1A disorders.
Indelicato E, Raccagni C, Runer S, Hannink J, Nachbauer W, Eigentler A, Amprosi M, Wenning G, Boesch S.
J Neurol. 2022 Jun;269(6):2941-2947. doi: 10.1007/s00415-021-10878-y. Epub 2021 Nov 9.
PMID: 34755206 Free PMC article.
An Item Response Theory analysis of the Unified Multiple System Atrophy Rating Scale.
Foubert-Samier A, Pavy-Le Traon A, Saulnier T, Le-Goff M, Fabbri M, Helmer C, Rascol O, Proust-Lima C, Meissner WG.
Parkinsonism Relat Disord. 2022 Jan;94:40-44. doi: 10.1016/j.parkreldis.2021.11.024. Epub 2021 Nov 30.
PMID: 34875563
Heterogeneity of white matter astrocytes in the human brain.
Bugiani M, Plug BC, Man JHK, Breur M, van der Knaap MS.
Acta Neuropathol. 2022 Feb;143(2):159-177. doi: 10.1007/s00401-021-02391-3. Epub 2021 Dec 8.
PMID: 34878591 Review.
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.
Zech M, Kopajtich R, Steinbrücker K, Bris C, Gueguen N, Feichtinger RG, Achleitner MT, Duzkale N, Périvier M, Koch J, Engelhardt H, Freisinger P, Wagner M, Brunet T, Berutti R, Smirnov D, Navaratnarajah T, Rodenburg RJT, Pais LS, Austin-Tse C, O’Leary M, Boesch S, Jech R, Bakhtiari S, Jin SC, Wilbert F, Kruer MC, Wortmann SB, Eckenweiler M, Mayr JA, Distelmaier F, Steinfeld R, Winkelmann J, Prokisch H.
Ann Neurol. 2022 Feb;91(2):225-237. doi: 10.1002/ana.26293. Epub 2022 Jan 20.
PMID: 34954817 Free PMC article.
Ambulatory blood pressure and drug treatment for orthostatic hypotension as predictors of mortality in patients with multiple system atrophy.
Pavy-Le Traon A, Foubert-Samier A, Ory-Magne F, Fabbri M, Senard JM, Meissner WG, Rascol O, Amar J.
Eur J Neurol. 2022 Apr;29(4):1025-1034. doi: 10.1111/ene.15232. Epub 2022 Jan 27.
PMID: 34971021
Cognitive composites for genetic frontotemporal dementia: GENFI-Cog.
Poos JM, Moore KM, Nicholas J, Russell LL, Peakman G, Convery RS, Jiskoot LC, van der Ende E, van den Berg E, Papma JM, Seelaar H, Pijnenburg YAL, Moreno F, Sanchez-Valle R, Borroni B, Laforce R, Masellis M, Tartaglia C, Graff C, Galimberti D, Rowe JB, Finger E, Synofzik M, Vandenberghe R, de Mendonça A, Tiraboschi P, Santana I, Ducharme S, Butler C, Gerhard A, Levin J, Danek A, Otto M, Le Ber I, Pasquier F, van Swieten JC, Rohrer JD; Genetic FTD Initiative (GENFI).
Alzheimers Res Ther. 2022 Jan 19;14(1):10. doi: 10.1186/s13195-022-00958-0.
PMID: 35045872 Free PMC article.
Differential Phospho-Signatures in Blood Cells Identify LRRK2 G2019S Carriers in Parkinson’s Disease.
Garrido A, Santamaría E, Fernández-Irigoyen J, Soto M, Simonet C, Fernández M, Obiang D, Tolosa E, Martí MJ, Padmanabhan S, Malagelada C, Ezquerra M, Fernández-Santiago R.
Mov Disord. 2022 May;37(5):1004-1015. doi: 10.1002/mds.28927. Epub 2022 Jan 20.
PMID: 35049090 Free PMC article.
Real-Life Turning Movements Capture Subtle Longitudinal and Preataxic Changes in Cerebellar Ataxia.
Thierfelder A, Seemann J, John N, Harmuth F, Giese M, Schüle R, Schöls L, Timmann D, Synofzik M, Ilg W.
Mov Disord. 2022 May;37(5):1047-1058. doi: 10.1002/mds.28930. Epub 2022 Jan 24.
PMID: 35067979
Mast Syndrome Outside the Amish Community: SPG21 in Europe.
Amprosi M, Indelicato E, Nachbauer W, Hussl A, Stendel C, Eigentler A, Gallenmüller C, Boesch S, Klopstock T.
Front Neurol. 2022 Jan 17;12:799953. doi: 10.3389/fneur.2021.799953. eCollection 2021.
PMID: 35111129 Free PMC article.
Therapy Trial Design in Vanishing White Matter: An Expert Consortium Opinion.
van der Knaap MS, Bonkowsky JL, Vanderver A, Schiffmann R, Krägeloh-Mann I, Bertini E, Bernard G, Fatemi SA, Wolf NI, Saunier-Vivar E, Rauner R, Dekker H, van Bokhoven P, van de Ven P, Leferink PS.
Neurol Genet. 2022 Feb 2;8(2):e657. doi: 10.1212/NXG.0000000000000657. eCollection 2022 Apr.
PMID: 35128050 Free PMC article. Review.
Paroxysmal Non-Kinesigenic Dyskinesia: Utility of the Quantification of GLUT1 in Red Blood Cells.
Soliani L, Martorell L, Yubero D, Verges C, Petit V, Ortigoza-Escobar JD.
Mov Disord Clin Pract. 2021 Dec 27;9(2):252-254. doi: 10.1002/mdc3.13391. eCollection 2022 Feb.
PMID: 35146065 Free PMC article. No abstract available.
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome.
Stenton SL, Tesarova M, Sheremet NL, Catarino CB, Carelli V, Ciara E, Curry K, Engvall M, Fleming LR, Freisinger P, Iwanicka-Pronicka K, Jurkiewicz E, Klopstock T, Koenig MK, Kolářová H, Kousal B, Krylova T, La Morgia C, Nosková L, Piekutowska-Abramczuk D, Russo SN, Stránecký V, Tóthová I, Träisk F, Prokisch H.
Brain. 2022 Jun 3;145(5):1624-1631. doi: 10.1093/brain/awac052.
PMID: 35148383 Free PMC article.
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.
Van de Vondel L, De Winter J, Beijer D, Coarelli G, Wayand M, Palvadeau R, Pauly MG, Klein K, Rautenberg M, Guillot-Noël L, Deconinck T, Vural A, Ertan S, Dogu O, Uysal H, Brankovic V, Herzog R, Brice A, Durr A, Klebe S, Stock F, Bischoff AT, Rattay TW, Sobrido MJ, De Michele G, De Jonghe P, Klopstock T, Lohmann K, Zanni G, Santorelli FM, Timmerman V, Haack TB, Züchner S; PREPARE Consortium; Schüle R, Stevanin G, Synofzik M, Basak AN, Baets J.
Mov Disord. 2022 Jun;37(6):1175-1186. doi: 10.1002/mds.28959. Epub 2022 Feb 12.
PMID: 35150594 Free PMC article.
Acute-onset paralytic strabismus in toddlers is important to consider as a potential early sign of late-infantile Metachromatic Leukodystrophy.
Beerepoot S, Wolf NI, Wehner K, Bender B, van der Knaap MS, Krägeloh-Mann I, Groeschel S.
Eur J Paediatr Neurol. 2022 Mar;37:87-93. doi: 10.1016/j.ejpn.2022.01.020. Epub 2022 Feb 3.
PMID: 35152000
Cerebellar Agenesis and Bilateral Polimicrogyria Associated with Rare Variants of CUB and Sushi Multiple Domains 1 Gene (CSMD1): A Longitudinal Neuropsychological and Neuroradiological Case Study.
Costanzo F, Zanni G, Fucà E, Di Paola M, Barresi S, Travaglini L, Colafati GS, Gambardella A, Bellacchio E, Bertini E, Menghini D, Vicari S.
Int J Environ Res Public Health. 2022 Jan 22;19(3):1224. doi: 10.3390/ijerph19031224.
PMID: 35162247 Free PMC article.
Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi).
Schoenmakers DH, Beerepoot S, van den Berg S, Adang L, Bley A, Boelens JJ, Fumagalli F, Goettsch WG, Grønborg S, Groeschel S, van Hasselt PM, Hollak CEM, Lindemans C, Mochel F, Mol PGM, Sevin C, Zerem A, Schöls L, Wolf NI.
Orphanet J Rare Dis. 2022 Feb 14;17(1):48. doi: 10.1186/s13023-022-02189-w.
PMID: 35164810 Free PMC article.
Characteristics of serum neurofilament light chain as a biomarker in hereditary spastic paraplegia type 4.
Kessler C, Serna-Higuita LM, Wilke C, Rattay TW, Hengel H, Reichbauer J, Stransky E, Leyva-Gutiérrez A, Mengel D, Synofzik M, Schöls L, Martus P, Schüle R.
Ann Clin Transl Neurol. 2022 Mar;9(3):326-338. doi: 10.1002/acn3.51518. Epub 2022 Feb 16.
PMID: 35171517 Free PMC article.
Untangling neurodevelopmental disorders in the adulthood: a movement disorder is the clue.
Indelicato E, Zech M, Amprosi M, Boesch S.
Orphanet J Rare Dis. 2022 Feb 16;17(1):55. doi: 10.1186/s13023-022-02218-8.
PMID: 35172867 Free PMC article.
Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia: Review of Clinical Manifestations as Foundations for Therapeutic Development.
Papapetropoulos S, Pontius A, Finger E, Karrenbauer V, Lynch DS, Brennan M, Zappia S, Koehler W, Schoels L, Hayer SN, Konno T, Ikeuchi T, Lund T, Orthmann-Murphy J, Eichler F, Wszolek ZK.
Front Neurol. 2022 Feb 3;12:788168. doi: 10.3389/fneur.2021.788168. eCollection 2021.
PMID: 35185751 Free PMC article. Review.
Evolution of disability in spinocerebellar ataxias type 1, 2, 3, and 6.
Jacobi H, Schaprian T, Beyersmann J, Tezenas du Montcel S, Schmid M, Klockgether T; EUROSCA and RISCA Study Groups.
Ann Clin Transl Neurol. 2022 Mar;9(3):286-295. doi: 10.1002/acn3.51515. Epub 2022 Feb 21.
PMID: 35188716 Free PMC article.
The diagnosis of the first-documented intragenic KANSL1 microduplication patient broadens the genetic spectrum of Koolen de Vries syndrome.
Martorell L, Yubero D, Capdevila EC, Fernández Isern G, Salinas D, Mari Vico R, Rebollo M, Muchart J, Armstrong J, Ortigoza-Escobar JD.
Clin Genet. 2022 May;101(5-6):575-576. doi: 10.1111/cge.14124. Epub 2022 Feb 22.
PMID: 35191016 No abstract available.
Neurological and Neuroimaging Features of CYB5R3-Related Recessive Hereditary Methemoglobinemia Type II.
Nicita F, Sabatini L, Alesi V, Lucignani G, Sallicandro E, Sferra A, Bertini E, Zanni G, Palumbo G.
Brain Sci. 2022 Jan 29;12(2):182. doi: 10.3390/brainsci12020182.
PMID: 35203946 Free PMC article.
A Potential Citrate Shunt in Erythrocytes of PKAN Patients Caused by Mutations in Pantothenate Kinase 2.
Werning M, Dobretzberger V, Brenner M, Müllner EW, Mlynek G, Djinovic-Carugo K, Baron DM, Fragner L, Bischoff AT, Büchner B, Klopstock T, Weckwerth W, Salzer U.
Biomolecules. 2022 Feb 18;12(2):325. doi: 10.3390/biom12020325.
PMID: 35204826 Free PMC article.
A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability.
Reith M, Zeltner L, Schäferhoff K, Witt D, Zuleger T, Haack TB, Bornemann A, Alber M, Ruf S, Schoels L, Stingl K, Weisschuh N.
Int J Mol Sci. 2022 Feb 18;23(4):2271. doi: 10.3390/ijms23042271.
PMID: 35216386 Free PMC article.
Improving Mood and Cognitive Symptoms in Huntington’s Disease With Cariprazine Treatment.
Molnar MJ, Molnar V, Fedor M, Csehi R, Acsai K, Borsos B, Grosz Z.
Front Psychiatry. 2022 Feb 10;12:825532. doi: 10.3389/fpsyt.2021.825532. eCollection 2021.
PMID: 35222108 Free PMC article.
Combining Literature Review With a Ground Truth Approach for Diagnosing Huntington’s Disease Phenocopy.
Nguyen QTR, Ortigoza Escobar JD, Burgunder JM, Mariotti C, Saft C, Hjermind LE, Youssov K, Landwehrmeyer GB, Bachoud-Lévi AC.
Front Neurol. 2022 Feb 10;13:817753. doi: 10.3389/fneur.2022.817753. eCollection 2022.
PMID: 35222250 Free PMC article.
Sensory axonal neuropathy in RFC1-disease: tip of the iceberg of broad subclinical multisystemic neurodegeneration.
Traschütz A, Wilke C, Haack TB, Bender B; RFC1 Study Group; Synofzik M.
Brain. 2022 Apr 29;145(3):e6-e9. doi: 10.1093/brain/awac003.
PMID: 35230382 No abstract available.
Generation of two SPAST knockout human induced pluripotent stem cell lines to create a model for Hereditary Spastic Paraplegia type 4.
Korneck M, Wiora L, Schöls L, Hauser S.
Stem Cell Res. 2022 Apr;60:102741. doi: 10.1016/j.scr.2022.102741. Epub 2022 Feb 28.
PMID: 35248878
RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia.
Beijer D, Dohrn MF, De Winter J, Fazal S, Cortese A, Stojkovic T, Fernández-Eulate G, Remiche G, Gentile M, Van Coster R, Dufke C, Synofzik M, De Jonghe P, Züchner S, Baets J.
Eur J Neurol. 2022 Jul;29(7):2156-2161. doi: 10.1111/ene.15310. Epub 2022 Mar 23.
PMID: 35253317
Levels of Neurofilament Light at the Preataxic and Ataxic Stages of Spinocerebellar Ataxia Type 1.
Wilke C, Mengel D, Schöls L, Hengel H, Rakowicz M, Klockgether T, Durr A, Filla A, Melegh B, Schüle R, Reetz K, Jacobi H, Synofzik M.
Neurology. 2022 May 17;98(20):e1985-e1996. doi: 10.1212/WNL.0000000000200257. Epub 2022 Mar 9.
PMID: 35264424 Free PMC article.
How to approach a neurogenetics diagnosis in different European countries: The European Academy of Neurology Neurogenetics Panel survey.
Mancuso M, Houlden H, Molnar MJ, Filla A, Breza M, Graessner H, Bassetti CLA, Boesch S.
Eur J Neurol. 2022 Jul;29(7):1885-1891. doi: 10.1111/ene.15320. Epub 2022 Mar 22.
PMID: 35271759 Free PMC article.
Joint models for the longitudinal analysis of measurement scales in the presence of informative dropout.
Saulnier T, Philipps V, Meissner WG, Rascol O, Pavy-Le Traon A, Foubert-Samier A, Proust-Lima C.
Methods. 2022 Jul;203:142-151. doi: 10.1016/j.ymeth.2022.03.003. Epub 2022 Mar 10.
PMID: 35283328
Tau deposition patterns are associated with functional connectivity in primary tauopathies.
Franzmeier N, Brendel M, Beyer L, Slemann L, Kovacs GG, Arzberger T, Kurz C, Respondek G, Lukic MJ, Biel D, Rubinski A, Frontzkowski L, Hummel S, Müller A, Finze A, Palleis C, Joseph E, Weidinger E, Katzdobler S, Song M, Biechele G, Kern M, Scheifele M, Rauchmann BS, Perneczky R, Rullman M, Patt M, Schildan A, Barthel H, Sabri O, Rumpf JJ, Schroeter ML, Classen J, Villemagne V, Seibyl J, Stephens AW, Lee EB, Coughlin DG, Giese A, Grossman M, McMillan CT, Gelpi E, Molina-Porcel L, Compta Y, van Swieten JC, Laat LD, Troakes C, Al-Sarraj S, Robinson JL, Xie SX, Irwin DJ, Roeber S, Herms J, Simons M, Bartenstein P, Lee VM, Trojanowski JQ, Levin J, Höglinger G, Ewers M.
Nat Commun. 2022 Mar 15;13(1):1362. doi: 10.1038/s41467-022-28896-3.
PMID: 35292638 Free PMC article.
The cognitive profile of Friedreich ataxia: a systematic review and meta-analysis.
Naeije G, Schulz JB, Corben LA.
BMC Neurol. 2022 Mar 17;22(1):97. doi: 10.1186/s12883-022-02615-3.
PMID: 35300598 Free PMC article.
AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism.
Garavaglia B, Vallian S, Romito LM, Straccia G, Capecci M, Invernizzi F, Andrenelli E, Kazemi A, Boesch S, Kopajtich R, Olfati N, Shariati M, Shoeibi A, Sadr-Nabavi A, Prokisch H, Winkelmann J, Zech M.
Parkinsonism Relat Disord. 2022 Apr;97:52-56. doi: 10.1016/j.parkreldis.2022.03.007. Epub 2022 Mar 16.
PMID: 35306330
Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease.
Karaa A, MacMullen LE, Campbell JC, Christodoulou J, Cohen BH, Klopstock T, Koga Y, Lamperti C, van Maanen R, McFarland R, Parikh S, Rahman S, Scaglia F, Sherman AV, Yeske P, Falk MJ.
Adv Genet (Hoboken). 2022 Mar;3(1):2100047. doi: 10.1002/ggn2.202100047. Epub 2021 Dec 19.
PMID: 35317023 Free PMC article.
European Academy of Neurology guidance for developing and reporting clinical practice guidelines on rare neurological diseases.
Aleksovska K, Kobulashvili T, Costa J, Zimmermann G, Ritchie K, Reinhard C, Vignatelli L, Fanciulli A, Damian M, Pavlakova L, Burgunder JM, Kopishinskaya S, Rakusa M, Kovacs N, Erdogan FF, Linton LR, Copetti M, Lamperti C, Servidei S, Evangelista T, Ayme S, Pareyson D, Sellner J, Krarup C, de Visser M, van den Bergh P, Toscano A, Graessner H, Berger T, Bassetti C, Vidailhet M, Trinka E, Deuschl G, Federico A, Leone MA.
Eur J Neurol. 2022 Jun;29(6):1571-1586. doi: 10.1111/ene.15267. Epub 2022 Mar 23.
PMID: 35318776
Examining empathy deficits across familial forms of frontotemporal dementia within the GENFI cohort.
Foster PH, Russell LL, Peakman G, Convery RS, Bouzigues A, Greaves CV, Bocchetta M, Cash DM, van Swieten JC, Jiskoot LC, Moreno F, Sanchez-Valle R, Laforce R, Graff C, Masellis M, Tartaglia C, Rowe JB, Borroni B, Finger E, Synofzik M, Galimberti D, Vandenberghe R, de Mendonça A, Butler CR, Gerhard A, Ducharme S, Le Ber I, Tagliavini F, Santana I, Pasquier F, Levin J, Danek A, Otto M, Sorbi S, Rohrer JD; Genetic FTD Initiative (GENFI).
Cortex. 2022 May;150:12-28. doi: 10.1016/j.cortex.2022.01.012. Epub 2022 Feb 9.
PMID: 35325762 Free PMC article.
Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson’s Disease.
Segur-Bailach E, Ugarteburu O, Tort F, Texido L, Painous C, Compta Y, Martí MJ, Ribes A, Gort L.
J Clin Med. 2022 Mar 21;11(6):1749. doi: 10.3390/jcm11061749.
PMID: 35330074 Free PMC article.
Personalized medicine for rare neurogenetic disorders: can we make it happen?
van Eeghen AM, Bruining H, Wolf NI, Bergen AA, Houtkooper RH, van Haelst MM, van Karnebeek CD.
Cold Spring Harb Mol Case Stud. 2022 Mar 24;8(2):a006200. doi: 10.1101/mcs.a006200. Print 2022 Feb.
PMID: 35332073 Free PMC article.
Structural brain splitting is a hallmark of Granulin-related frontotemporal dementia.
Gazzina S, Grassi M, Premi E, Alberici A, Benussi A, Archetti S, Gasparotti R, Bocchetta M, Cash DM, Todd EG, Peakman G, Convery RS, van Swieten JC, Jiskoot LC, Seelaar H, Sanchez-Valle R, Moreno F, Laforce R Jr, Graff C, Synofzik M, Galimberti D, Rowe JB, Masellis M, Tartaglia MC, Finger E, Vandenberghe R, de Mendonça A, Tagliavini F, Butler CR, Santana I, Gerhard A, Ber IL, Pasquier F, Ducharme S, Levin J, Danek A, Sorbi S, Otto M, Rohrer JD, Borroni B; Genetic Frontotemporal dementia Initiative (GENFI).
Neurobiol Aging. 2022 Jun;114:94-104. doi: 10.1016/j.neurobiolaging.2022.02.009. Epub 2022 Feb 26.
PMID: 35339292
An Integrated Phenotypic and Genotypic Approach Reveals a High-Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain.
Deisseroth CA, Lerma VC, Magyar CL, Pfliger JM, Nayak A, Bliss ND, LeMaire AW, Narayanan V, Balak C, Zanni G, Valente EM, Bertini E, Benke PJ, Wangler MF, Chao HT.
Ann Neurol. 2022 Jul;92(1):138-153. doi: 10.1002/ana.26359. Epub 2022 Apr 16.
PMID: 35340043
Anomia is present pre-symptomatically in frontotemporal dementia due to MAPT mutations.
Bouzigues A, Russell LL, Peakman G, Bocchetta M, Greaves CV, Convery RS, Todd E, Rowe JB, Borroni B, Galimberti D, Tiraboschi P, Masellis M, Tartaglia MC, Finger E, van Swieten JC, Seelaar H, Jiskoot L, Sorbi S, Butler CR, Graff C, Gerhard A, Langheinrich T, Laforce R, Sanchez-Valle R, de Mendonça A, Moreno F, Synofzik M, Vandenberghe R, Ducharme S, Le Ber I, Levin J, Danek A, Otto M, Pasquier F, Santana I, Rohrer JD; Genetic FTD Initiative, GENFI.
J Neurol. 2022 Aug;269(8):4322-4332. doi: 10.1007/s00415-022-11068-0. Epub 2022 Mar 29.
PMID: 35348856 Free PMC article.
Real-Life Clinical Experience With Cariprazine: A Systematic Review of Case Studies.
Csehi R, Dombi ZB, Sebe B, Molnár MJ.
Front Psychiatry. 2022 Mar 17;13:827744. doi: 10.3389/fpsyt.2022.827744. eCollection 2022.
PMID: 35370825 Free PMC article.
Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network.
Rossi S, Rubegni A, Riso V, Barghigiani M, Bassi MT, Battini R, Bertini E, Cereda C, Cioffi E, Criscuolo C, Dal Fabbro B, Dato C, D’Angelo MG, Di Muzio A, Diamanti L, Dotti MT, Filla A, Gioiosa V, Liguori R, Martinuzzi A, Massa R, Mignarri A, Moroni R, Musumeci O, Nicita F, Orologio I, Orsi L, Pegoraro E, Petrucci A, Plumari M, Ricca I, Rizzo G, Romano S, Rumore R, Sampaolo S, Scarlato M, Seri M, Stefan C, Straccia G, Tessa A, Travaglini L, Trovato R, Ulgheri L, Vazza G, Orlacchio A, Silvestri G, Santorelli FM, Melone MAB, Casali C.
Neurol Genet. 2022 Mar 30;8(2):e664. doi: 10.1212/NXG.0000000000000664. eCollection 2022 Apr.
PMID: 35372684 Free PMC article.
Development of a sensitive trial-ready poly(GP) CSF biomarker assay for C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis.
Wilson KM, Katona E, Glaria I, Carcolé M, Swift IJ, Sogorb-Esteve A, Heller C, Bouzigues A, Heslegrave AJ, Keshavan A, Knowles K, Patil S, Mohapatra S, Liu Y, Goyal J, Sanchez-Valle R, Laforce RJ, Synofzik M, Rowe JB, Finger E, Vandenberghe R, Butler CR, Gerhard A, Van Swieten JC, Seelaar H, Borroni B, Galimberti D, de Mendonça A, Masellis M, Tartaglia MC, Otto M, Graff C, Ducharme S, Schott JM, Malaspina A, Zetterberg H, Boyanapalli R, Rohrer JD, Isaacs AM; Genetic FTD Initiative (GENFI).
J Neurol Neurosurg Psychiatry. 2022 Jul;93(7):761-771. doi: 10.1136/jnnp-2021-328710. Epub 2022 Apr 4.
PMID: 35379698 Free PMC article.
Analysis of human brain tissue derived from DBS surgery.
Kangas SM, Teppo J, Lahtinen MJ, Suoranta A, Ghimire B, Mattila P, Uusimaa J, Varjosalo M, Katisko J, Hinttala R.
Transl Neurodegener. 2022 Apr 13;11(1):22. doi: 10.1186/s40035-022-00297-y.
PMID: 35418104 Free PMC article.
Corrigendum: Combining Literature Review With a Ground Truth Approach for Diagnosing Huntington’s Disease Phenocopy.
Nguyen QTR, Ortigoza Escobar JD, Burgunder JM, Mariotti C, Saft C, Hjermind LE, Youssov K, Landwehrmeyer GB, Bachoud-Lévi AC.
Front Neurol. 2022 Mar 30;13:891800. doi: 10.3389/fneur.2022.891800. eCollection 2022.
PMID: 35432158 Free PMC article.
Mitochondrial stroke-like episodes: The search for new therapies.
Orsucci D, Caldarazzo Ienco E, Montano V, Siciliano G, Mancuso M.
Pharmacol Res. 2022 Jun;180:106228. doi: 10.1016/j.phrs.2022.106228. Epub 2022 Apr 21.
PMID: 35462010
Mitochondrial Ataxias: Molecular Classification and Clinical Heterogeneity.
Lopriore P, Ricciarini V, Siciliano G, Mancuso M, Montano V.
Neurol Int. 2022 Apr 2;14(2):337-356. doi: 10.3390/neurolint14020028.
PMID: 35466209 Free PMC article. Review.
Paving the Way Toward Meaningful Trials in Ataxias: An Ataxia Global Initiative Perspective.
Klockgether T, Ashizawa T, Brais B, Chuang R, Durr A, Fogel B, Greenfield J, Hagen S, Jardim LB, Jiang H, Onodera O, Pedroso JL, Soong BW, Szmulewicz D, Graessner H, Synofzik M; Ataxia Global Initiative (AGI).
Mov Disord. 2022 Jun;37(6):1125-1130. doi: 10.1002/mds.29032. Epub 2022 Apr 27.
PMID: 35475582 No abstract available.
Tau and neurofilament light-chain as fluid biomarkers in spinocerebellar ataxia type 3.
Garcia-Moreno H, Prudencio M, Thomas-Black G, Solanky N, Jansen-West KR, Hanna Al-Shaikh R, Heslegrave A, Zetterberg H, Santana MM, Pereira de Almeida L, Vasconcelos-Ferreira A, Januário C, Infante J, Faber J, Klockgether T, Reetz K, Raposo M, Ferreira AF, Lima M, Schöls L, Synofzik M, Hübener-Schmid J, Puschmann A, Gorcenco S, Wszolek ZK, Petrucelli L, Giunti P.
Eur J Neurol. 2022 Aug;29(8):2439-2452. doi: 10.1111/ene.15373. Epub 2022 May 26.
PMID: 35478426 Free PMC article.
Longitudinal Cognitive Changes in Genetic Frontotemporal Dementia Within the GENFI Cohort.
Poos JM, MacDougall A, van den Berg E, Jiskoot LC, Papma JM, van der Ende EL, Seelaar H, Russell LL, Peakman G, Convery R, Pijnenburg YAL, Moreno F, Sanchez-Valle R, Borroni B, Laforce R Jr, Doré MC, Masellis M, Tartaglia MC, Graff C, Galimberti D, Rowe JB, Finger E, Synofzik M, Vandenberghe R, Mendonça A, Tiraboschi P, Santana I, Ducharme S, Butler C, Gerhard A, Levin J, Danek A, Otto M, Le Ber I, Pasquier F, van Swieten J, Rohrer JD; Genetic FTD Initiative (GENFI).
Neurology. 2022 Jul 19;99(3):e281-e295. doi: 10.1212/WNL.0000000000200384. Epub 2022 Apr 28.
PMID: 35483895 Free PMC article.
Diagnostic Accuracy of Magnetic Resonance Imaging Measures of Brain Atrophy Across the Spectrum of Progressive Supranuclear Palsy and Corticobasal Degeneration.
Illán-Gala I, Nigro S, VandeVrede L, Falgàs N, Heuer HW, Painous C, Compta Y, Martí MJ, Montal V, Pagonabarraga J, Kulisevsky J, Lleó A, Fortea J, Logroscino G, Quattrone A, Quattrone A, Perry DC, Gorno-Tempini ML, Rosen HJ, Grinberg LT, Spina S, La Joie R, Rabinovici GD, Miller BL, Rojas JC, Seeley WW, Boxer AL.
JAMA Netw Open. 2022 Apr 1;5(4):e229588. doi: 10.1001/jamanetworkopen.2022.9588.
PMID: 35486397 Free PMC article.
How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.
Wortmann SB, Oud MM, Alders M, Coene KLM, van der Crabben SN, Feichtinger RG, Garanto A, Hoischen A, Langeveld M, Lefeber D, Mayr JA, Ockeloen CW, Prokisch H, Rodenburg R, Waterham HR, Wevers RA, van de Warrenburg BPC, Willemsen MAAP, Wolf NI, Vissers LELM, van Karnebeek CDM.
J Inherit Metab Dis. 2022 Jul;45(4):663-681. doi: 10.1002/jimd.12507. Epub 2022 May 22.
PMID: 35506430 Free PMC article. Review.
How can we define the presymptomatic C9orf72 disease in 2022? An overview on the current definitions of preclinical and prodromal phases.
Saracino D, Le Ber I.
Rev Neurol (Paris). 2022 May;178(5):426-436. doi: 10.1016/j.neurol.2022.03.007. Epub 2022 May 5.
PMID: 35525633 Review.
Iron-sensitive MR imaging of the primary motor cortex to differentiate hereditary spastic paraplegia from other motor neuron diseases.
Cosottini M, Donatelli G, Ricca I, Bianchi F, Frosini D, Montano V, Migaleddu G, Del Prete E, Tessa A, Cecchi P, D’Amelio C, Siciliano G, Mancuso M, Santorelli FM.
Eur Radiol. 2022 Dec;32(12):8058-8064. doi: 10.1007/s00330-022-08865-6. Epub 2022 May 20.
PMID: 35593959
Combined CSF α-SYN RT-QuIC, CSF NFL and midbrain-pons planimetry in degenerative parkinsonisms: From bedside to bench, and back again.
Compta Y, Painous C, Soto M, Pulido-Salgado M, Fernández M, Camara A, Sánchez V, Bargalló N, Caballol N, Pont-Sunyer C, Buongiorno M, Martin N, Basora M, Tio M, Giraldo DM, Pérez-Soriano A, Zaro I, Muñoz E, Martí MJ, Valldeoriola F.
Parkinsonism Relat Disord. 2022 Jun;99:33-41. doi: 10.1016/j.parkreldis.2022.05.006. Epub 2022 May 13.
PMID: 35594661
Brain MRI in Monogenic Cerebral Small Vessel Diseases: A Practical Handbook.
Ulivi L, Cosottini M, Migaleddu G, Orlandi G, Giannini N, Siciliano G, Mancuso M.
Curr Mol Med. 2022;22(4):300-311. doi: 10.2174/1566524021666210510164003.
PMID: 35603886 Review.
Altered retinal structure and function in Spinocerebellar ataxia type 3.
Toulis V, Casaroli-Marano R, Camós-Carreras A, Figueras-Roca M, Sánchez-Dalmau B, Muñoz E, Ashraf NS, Ferreira AF, Khan N, Marfany G, Costa MDC.
Neurobiol Dis. 2022 Aug;170:105774. doi: 10.1016/j.nbd.2022.105774. Epub 2022 May 21.
PMID: 35605759
Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA).
Schuermans N, Hemelsoet D, Terryn W, Steyaert S, Van Coster R, Coucke PJ, Steyaert W, Callewaert B, Bogaert E, Verloo P, Vanlander AV, Debackere E, Ghijsels J, LeBlanc P, Verdin H, Naesens L, Haerynck F, Callens S, Dermaut B, Poppe B; for UD-PrOZA.
Orphanet J Rare Dis. 2022 May 23;17(1):210. doi: 10.1186/s13023-022-02365-y.
PMID: 35606766 Free PMC article.
Lower Prevalence of Chronic Pain in Manifest Huntington’s Disease: A Pilot Observational Study.
Delussi M, Sciruicchio V, Taurisano P, Morgante F, Salvatore E, Ferrara IP, Clemente L, Sorbera C, de Tommaso M.
Brain Sci. 2022 May 21;12(5):676. doi: 10.3390/brainsci12050676.
PMID: 35625062 Free PMC article.
Dominant-acting CSF1R variants cause microglial depletion and altered astrocytic phenotype in zebrafish and adult-onset leukodystrophy.
Berdowski WM, van der Linde HC, Breur M, Oosterhof N, Beerepoot S, Sanderson L, Wijnands LI, de Jong P, Tsai-Meu-Chong E, de Valk W, de Witte M, van IJcken WFJ, Demmers J, van der Knaap MS, Bugiani M, Wolf NI, van Ham TJ.
Acta Neuropathol. 2022 Aug;144(2):211-239. doi: 10.1007/s00401-022-02440-5. Epub 2022 Jun 17.
PMID: 35713703 Free PMC article.
Cytokine profile and brain biopsy in a case of childhood-onset central nervous system vasculitis in Noonan syndrome-like disorder due to a novel CBL variant.
Ortigoza-Escobar JD, Fernández de Sevilla M, Monfort L, Antón J, Iglesias E, Rebollo M, Del-Prado-Sánchez C, Arostegui JI, Mensa-Vilaró A, Alsina L, Rodriguez-Vigil Iturrate C, Niemeyer CM, Jou C, Catalá A.
J Neuroimmunol. 2022 Aug 15;369:577917. doi: 10.1016/j.jneuroim.2022.577917. Epub 2022 Jun 12.
PMID: 35717738
Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders.
Romaniello R, Pasca L, Panzeri E, D’Abrusco F, Travaglini L, Serpieri V, Signorini S, Aiello C, Bertini E, Bassi MT, Valente EM, Zanni G, Borgatti R, Arrigoni F.
Int J Mol Sci. 2022 Jun 16;23(12):6723. doi: 10.3390/ijms23126723.
PMID: 35743164 Free PMC article.
Guanabenz ameliorates disease in vanishing white matter mice in contrast to sephin1.
Witkamp D, Oudejans E, Hu-A-Ng GV, Hoogterp L, Krzywańska AM, Žnidaršič M, Marinus K, de Veij Mestdagh CF, Bartelink I, Bugiani M, van der Knaap MS, Abbink TEM.
Ann Clin Transl Neurol. 2022 Aug;9(8):1147-1162. doi: 10.1002/acn3.51611. Epub 2022 Jul 1.
PMID: 35778832 Free PMC article.
Differential Temporal Dynamics of Axial and Appendicular Ataxia in SCA3.
Maas RPPWM, Teerenstra S, Lima M, Pires P, Pereira de Almeida L, van Gaalen J, Timmann D, Infante J, Onyike C, Bushara K, Jacobi H, Reetz K, Santana MM, Afonso Ribeiro J, Hübener-Schmid J, de Vries JJ, Synofzik M, Schöls L, Garcia-Moreno H, Giunti P, Faber J, Klockgether T, van de Warrenburg BPC.
Mov Disord. 2022 Sep;37(9):1850-1860. doi: 10.1002/mds.29135. Epub 2022 Jul 8.
PMID: 35808813 Free PMC article.
De novo 4q35.2 duplication containing FAT1 is associated with autism spectrum disorder.
Hernando-Davalillo C, Martín AAS, Borregan Prats M, Ortigoza-Escobar JD.
Clin Genet. 2022 Nov;102(5):434-437. doi: 10.1111/cge.14194. Epub 2022 Jul 31.
PMID: 35861186
Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes.
Dzinovic I, Boesch S, Škorvánek M, Necpál J, Švantnerová J, Pavelekova P, Havránková P, Tsoma E, Indelicato E, Runkel E, Held V, Weise D, Janzarik W, Eckenweiler M, Berweck S, Mall V, Haslinger B, Jech R, Winkelmann J, Zech M.
Parkinsonism Relat Disord. 2022 Sep;102:1-6. doi: 10.1016/j.parkreldis.2022.07.003. Epub 2022 Jul 18.
PMID: 35872528
Long-Duration Progressive Supranuclear Palsy: Clinical Course and Pathological Underpinnings.
Lukic MJ, Respondek G, Kurz C, Compta Y, Gelpi E, Ferguson LW, Rajput A, Troakes C; MDS-endorsed PSP study group; van Swieten JC, Giese A, Roeber S, Herms J, Arzberger T, Höglinger G.
Ann Neurol. 2022 Oct;92(4):637-649. doi: 10.1002/ana.26455. Epub 2022 Aug 12.
PMID: 35872640
Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder.
Cappuccio G, De Bernardi ML, Morlando A, Peduto C, Scala I, Pinelli M, Bellacchio E, Gallo FG, Magli A, Plaitano C, Serrano M, Pías L, Català J, Bolasell M, Torella A, Nigro V, Zanni G, Brunetti-Pierri N.
Am J Med Genet A. 2022 Oct;188(10):3032-3040. doi: 10.1002/ajmg.a.62911. Epub 2022 Jul 25.
PMID: 35876338 Free PMC article.
Neurofilament light levels predict clinical progression and death in multiple system atrophy.
Chelban V, Nikram E, Perez-Soriano A, Wilke C, Foubert-Samier A, Vijiaratnam N, Guo T, Jabbari E, Olufodun S, Gonzalez M, Senkevich K, Laurens B, Péran P, Rascol O, Le Traon AP, Todd EG, Costantini AA, Alikhwan S, Tariq A, Ng BL, Muñoz E, Painous C, Compta Y, Junque C, Segura B, Zhelcheska K, Wellington H, Schöls L, Jaunmuktane Z, Kobylecki C, Church A, Hu MTM, Rowe JB, Leigh PN, Massey L, Burn DJ, Pavese N, Foltynie T, Pchelina S, Wood N, Heslegrave AJ, Zetterberg H, Bocchetta M, Rohrer JD, Marti MJ, Synofzik M, Morris HR, Meissner WG, Houlden H.
Brain. 2022 Dec 19;145(12):4398-4408. doi: 10.1093/brain/awac253.
PMID: 35903017 Free PMC article.
Cerebrospinal Fluid Proteomics in Friedreich Ataxia Reveals Markers of Neurodegeneration and Neuroinflammation.
Imbault V, Dionisi C, Naeije G, Communi D, Pandolfo M.
Front Neurosci. 2022 Jul 13;16:885313. doi: 10.3389/fnins.2022.885313. eCollection 2022.
PMID: 35911978 Free PMC article.
Increased Phospho-AKT in Blood Cells from LRRK2 G2019S Mutation Carriers.
Garrido A, Pérez-Sisqués L, Simonet C, Campoy-Campos G, Solana-Balaguer J, Martín-Flores N, Fernández M, Soto M, Obiang D, Cámara A, Valldeoriola F, Muñoz E, Compta Y, Pérez-Navarro E, Alberch J, Tolosa E, Martí MJ, Ezquerra M, Malagelada C, Fernández-Santiago R.
Ann Neurol. 2022 Nov;92(5):888-894. doi: 10.1002/ana.26469. Epub 2022 Sep 26.
PMID: 35929078 Free PMC article.
Very Long Time Persistent HyperCKemia as the First Manifestation of McLeod Syndrome: A Case Report.
Torres V, Painous C, Santacruz P, Sánchez A, Sanz C, Grau-Junyent JM, Muñoz E.
Mov Disord Clin Pract. 2022 Jul 3;9(6):821-824. doi: 10.1002/mdc3.13502. eCollection 2022 Aug.
PMID: 35937484 Free PMC article. No abstract available.
Frequency and Longitudinal Course of Motor Signs In Genetic Frontotemporal Dementia.
Schönecker S, Martinez-Murcia FJ, Rauchmann BS, Franzmeier N, Prix C, Wlasich E, Loosli SV, Bochmann K, Gorriz Saez JM, Laforce R Jr, Ducharme S, Tartaglia MC, Finger E, de Mendonça A, Santana I, Sanchez-Valle R, Moreno F, Sorbi S, Tagliavini F, Borroni B, Otto M, Synofzik M, Galimberti D, Vandenberghe R, van Swieten J, Butler C, Gerhard A, Graff C, Danek A, Rohrer JD, Masellis M, Rowe J, Levin J; Genetic Frontotemporal Dementia Intiative (GENFI).
Neurology. 2022 Aug 10;99(10):e1032-44. doi: 10.1212/WNL.0000000000200828. Online ahead of print.
PMID: 35948443 Free PMC article.
The CBI-R detects early behavioural impairment in genetic frontotemporal dementia.
Nelson A, Russell LL, Peakman G, Convery RS, Bouzigues A, Greaves CV, Bocchetta M, Cash DM, van Swieten JC, Jiskoot L, Moreno F, Sanchez-Valle R, Laforce R, Graff C, Masellis M, Tartaglia MC, Rowe JB, Borroni B, Finger E, Synofzik M, Galimberti D, Vandenberghe R, de Mendonça A, Butler CR, Gerhard A, Ducharme S, Le Ber I, Santana I, Pasquier F, Levin J, Otto M, Sorbi S, Rohrer JD; Genetic FTD Initiative (GENFI).
Ann Clin Transl Neurol. 2022 May;9(5):644-658. doi: 10.1002/acn3.51544. Epub 2022 Mar 26.
PMID: 35950369 Free PMC article.
Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohort.
Montano V, Lopriore P, Gruosso F, Carelli V, Comi GP, Filosto M, Lamperti C, Mongini T, Musumeci O, Servidei S, Tonin P, Toscano A, Primiano G, Valentino ML, Bortolani S, Marchet S, Ricci G, Modenese A, Cotti Piccinelli S, Risi B, Meneri M, Arena IG, Siciliano G, Mancuso M.
J Neurol. 2022 Dec;269(12):6555-6565. doi: 10.1007/s00415-022-11324-3. Epub 2022 Aug 18.
PMID: 35980466 Free PMC article.
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Park J, Tucci A, Cipriani V, Demidov G, Rocca C, Senderek J, Butryn M, Velic A, Lam T, Galanaki E, Cali E, Vestito L, Maroofian R, Deininger N, Rautenberg M, Admard J, Hahn GA, Bartels C, van Os NJH, Horvath R, Chinnery PF, Tiet MY, Hewamadduma C, Hadjivassiliou M, Tofaris GK; Genomics England Research Consortium; Wood NW, Hayer SN, Bender F, Menden B, Cordts I, Klein K, Nguyen HP, Krauss JK, Blahak C, Strom TM, Sturm M, van de Warrenburg B, Lerche H, Maček B, Synofzik M, Ossowski S, Timmann D, Wolf ME, Smedley D, Riess O, Schöls L, Houlden H, Haack TB, Hengel H.
Genet Med. 2022 Oct;24(10):2079-2090. doi: 10.1016/j.gim.2022.07.006. Epub 2022 Aug 20.
PMID: 35986737
Common Variants Near ZIC1 and ZIC4 in Autopsy-Confirmed Multiple System Atrophy.
Hopfner F, Tietz AK, Ruf VC, Ross OA, Koga S, Dickson D, Aguzzi A, Attems J, Beach T, Beller A, Cheshire WP, van Deerlin V, Desplats P, Deuschl G, Duyckaerts C, Ellinghaus D, Evsyukov V, Flanagan ME, Franke A, Frosch MP, Gearing M, Gelpi E, van Gerpen JA, Ghetti B, Glass JD, Grinberg LT, Halliday G, Helbig I, Höllerhage M, Huitinga I, Irwin DJ, Keene DC, Kovacs GG, Lee EB, Levin J, Martí MJ, Mackenzie I, McKeith I, Mclean C, Mollenhauer B, Neumann M, Newell KL, Pantelyat A, Pendziwiat M, Peters A, Molina Porcel L, Rabano A, Matěj R, Rajput A, Rajput A, Reimann R, Scott WK, Seeley W, Selvackadunco S, Simuni T, Stadelmann C, Svenningsson P, Thomas A, Trenkwalder C, Troakes C, Trojanowski JQ, Uitti RJ, White CL, Wszolek ZK, Xie T, Ximelis T, Yebenes J; Alzheimer’s Disease Genetics Consortium; Müller U, Schellenberg GD, Herms J, Kuhlenbäumer G, Höglinger G.
Mov Disord. 2022 Oct;37(10):2110-2121. doi: 10.1002/mds.29164. Epub 2022 Aug 23.
PMID: 35997131
Digital Gait Biomarkers Allow to Capture 1-Year Longitudinal Change in Spinocerebellar Ataxia Type 3.
Ilg W, Müller B, Faber J, van Gaalen J, Hengel H, Vogt IR, Hennes G, van de Warrenburg B, Klockgether T, Schöls L, Synofzik M; ESMI Consortium.
Mov Disord. 2022 Nov;37(11):2295-2301. doi: 10.1002/mds.29206. Epub 2022 Aug 31.
PMID: 36043376
Differential impairment of cerebrospinal fluid synaptic biomarkers in the genetic forms of frontotemporal dementia.
Sogorb-Esteve A, Nilsson J, Swift IJ, Heller C, Bocchetta M, Russell LL, Peakman G, Convery RS, van Swieten JC, Seelaar H, Borroni B, Galimberti D, Sanchez-Valle R, Laforce R Jr, Moreno F, Synofzik M, Graff C, Masellis M, Tartaglia MC, Rowe JB, Vandenberghe R, Finger E, Tagliavini F, Santana I, Butler CR, Ducharme S, Gerhard A, Danek A, Levin J, Otto M, Sorbi S, Le Ber I, Pasquier F, Gobom J, Brinkmalm A, Blennow K, Zetterberg H, Rohrer JD; GENetic FTD Initiative.
Alzheimers Res Ther. 2022 Aug 31;14(1):118. doi: 10.1186/s13195-022-01042-3.
PMID: 36045450 Free PMC article.
Elevated CSF and plasma complement proteins in genetic frontotemporal dementia: results from the GENFI study.
van der Ende EL, Heller C, Sogorb-Esteve A, Swift IJ, McFall D, Peakman G, Bouzigues A, Poos JM, Jiskoot LC, Panman JL, Papma JM, Meeter LH, Dopper EGP, Bocchetta M, Todd E, Cash D, Graff C, Synofzik M, Moreno F, Finger E, Sanchez-Valle R, Vandenberghe R, Laforce R Jr, Masellis M, Tartaglia MC, Rowe JB, Butler C, Ducharme S, Gerhard A, Danek A, Levin J, Pijnenburg YAL, Otto M, Borroni B, Tagliavini F, de Mendonça A, Santana I, Galimberti D, Sorbi S, Zetterberg H, Huang E, van Swieten JC, Rohrer JD, Seelaar H; Genetic Frontotemporal Dementia Initiative (GENFI).
J Neuroinflammation. 2022 Sep 5;19(1):217. doi: 10.1186/s12974-022-02573-0.
PMID: 36064709 Free PMC article.
The Unified Multiple System Atrophy Rating Scale: Status, Critique, and Recommendations.
Krismer F, Palma JA, Calandra-Buonaura G, Stankovic I, Vignatelli L, Berger AK, Falup-Pecurariu C, Foubert-Samier A, Höglinger G, Kaufmann H, Kellerman L, Kim HJ, Klockgether T, Levin J, Martinez-Martin P, Mestre TA, Pellecchia MT, Perlman S, Qureshi I, Rascol O, Schrag A, Seppi K, Shang H, Stebbins GT, Wenning GK, Singer W, Meissner WG.
Mov Disord. 2022 Dec;37(12):2336-2341. doi: 10.1002/mds.29215. Epub 2022 Sep 8.
PMID: 36074648 Free PMC article. No abstract available.
CAPRIN1P512L causes aberrant protein aggregation and associates with early-onset ataxia.
Delle Vedove A, Natarajan J, Zanni G, Eckenweiler M, Muiños-Bühl A, Storbeck M, Guillén Boixet J, Barresi S, Pizzi S, Hölker I, Körber F, Franzmann TM, Bertini ES, Kirschner J, Alberti S, Tartaglia M, Wirth B.
Cell Mol Life Sci. 2022 Sep 22;79(10):526. doi: 10.1007/s00018-022-04544-3.
PMID: 36136249 Free PMC article.
Temporal order of clinical and biomarker changes in familial frontotemporal dementia.
Staffaroni AM, Quintana M, Wendelberger B, Heuer HW, Russell LL, Cobigo Y, Wolf A, Goh SM, Petrucelli L, Gendron TF, Heller C, Clark AL, Taylor JC, Wise A, Ong E, Forsberg L, Brushaber D, Rojas JC, VandeVrede L, Ljubenkov P, Kramer J, Casaletto KB, Appleby B, Bordelon Y, Botha H, Dickerson BC, Domoto-Reilly K, Fields JA, Foroud T, Gavrilova R, Geschwind D, Ghoshal N, Goldman J, Graff-Radford J, Graff-Radford N, Grossman M, Hall MGH, Hsiung GY, Huey ED, Irwin D, Jones DT, Kantarci K, Kaufer D, Knopman D, Kremers W, Lago AL, Lapid MI, Litvan I, Lucente D, Mackenzie IR, Mendez MF, Mester C, Miller BL, Onyike CU, Rademakers R, Ramanan VK, Ramos EM, Rao M, Rascovsky K, Rankin KP, Roberson ED, Savica R, Tartaglia MC, Weintraub S, Wong B, Cash DM, Bouzigues A, Swift IJ, Peakman G, Bocchetta M, Todd EG, Convery RS, Rowe JB, Borroni B, Galimberti D, Tiraboschi P, Masellis M, Finger E, van Swieten JC, Seelaar H, Jiskoot LC, Sorbi S, Butler CR, Graff C, Gerhard A, Langheinrich T, Laforce R, Sanchez-Valle R, de Mendonça A, Moreno F, Synofzik M, Vandenberghe R, Ducharme S, Le Ber I, Levin J, Danek A, Otto M, Pasquier F, Santana I, Kornak J, Boeve BF, Rosen HJ, Rohrer JD, Boxer AL; Frontotemporal Dementia Prevention Initiative (FPI) Investigators.
Nat Med. 2022 Oct;28(10):2194-2206. doi: 10.1038/s41591-022-01942-9. Epub 2022 Sep 22.
PMID: 36138153 Free PMC article.
Neurodevelopmental Gene-Related Dystonia: A Pediatric Case with NAA15 Variant.
Yubero D, Martorell L, Nunes T, Lyon GJ, Ortigoza-Escobar JD.
Mov Disord. 2022 Nov;37(11):2320-2321. doi: 10.1002/mds.29241. Epub 2022 Oct 11.
PMID: 36221186 Free PMC article. No abstract available.
Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.
Martínez-Rubio D, Hinarejos I, Sancho P, Gorría-Redondo N, Bernadó-Fonz R, Tello C, Marco-Marín C, Martí-Carrera I, Martínez-González MJ, García-Ribes A, Baviera-Muñoz R, Sastre-Bataller I, Martínez-Torres I, Duat-Rodríguez A, Janeiro P, Moreno E, Pías-Peleteiro L, Gordo MO, Ruiz-Gómez Á, Muñoz E, Martí MJ, Sánchez-Monteagudo A, Fuster C, Andrés-Bordería A, Pons RM, Jesús-Maestre S, Mir P, Lupo V, Pérez-Dueñas B, Darling A, Aguilera-Albesa S, Espinós C.
Int J Mol Sci. 2022 Oct 6;23(19):11847. doi: 10.3390/ijms231911847.
PMID: 36233161 Free PMC article.
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Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? – Chances and challenges.
Santhanakumaran V, Groeschel S, Harzer K, Kehrer C, Elgün S, Beck-Wödl S, Hengel H, Schöls L, Haack TB, Krägeloh-Mann I, Laugwitz L.
Mol Genet Metab. 2022 Nov;137(3):273-282. doi: 10.1016/j.ymgme.2022.09.009. Epub 2022 Sep 30.
PMID: 36240581
CSF glial markers are elevated in a subset of patients with genetic frontotemporal dementia.
Woollacott IOC, Swift IJ, Sogorb-Esteve A, Heller C, Knowles K, Bouzigues A, Russell LL, Peakman G, Greaves CV, Convery R, Heslegrave A, Rowe JB, Borroni B, Galimberti D, Tiraboschi P, Masellis M, Tartaglia MC, Finger E, van Swieten JC, Seelaar H, Jiskoot L, Sorbi S, Butler CR, Graff C, Gerhard A, Laforce R, Sanchez-Valle R, de Mendonça A, Moreno F, Synofzik M, Vandenberghe R, Ducharme S, Ber IL, Levin J, Otto M, Pasquier F, Santana I, Zetterberg H, Rohrer JD; Genetic FTD Initiative, GENFI.
Ann Clin Transl Neurol. 2022 Nov;9(11):1764-1777. doi: 10.1002/acn3.51672. Epub 2022 Oct 17.
PMID: 36245297 Free PMC article.
Patient-Reported Symptoms in the Global Multiple System Atrophy Registry.
Palma JA, Krismer F, Meissner WG, Kuijpers M, Millar-Vernetti P, Perez MA, Fanciulli A, Norcliffe-Kaufmann L, Bower P, Wenning GK, Kaufmann H.
Mov Disord Clin Pract. 2022 Aug 29;9(7):967-971. doi: 10.1002/mdc3.13544. eCollection 2022 Oct.
PMID: 36247899
Acetazolamide Improves Episodic Ataxia in a Patient with Non-Verbal Autism and Paroxysmal Dyskinesia Due To PRRT2 Biallelic Variants.
Martorell L, Macaya A, Pérez-Dueñas B, Ortigoza-Escobar JD.
Mov Disord Clin Pract. 2022 Aug 22;9(7):979-982. doi: 10.1002/mdc3.13528. eCollection 2022 Oct.
PMID: 36247910 No abstract available.
Rapidly progressive dementias – leukodystrophies as a potentially treatable cause.
Wolf NI, Pijnenburg YAL, van der Knaap MS.
Nat Rev Neurol. 2022 Dec;18(12):758. doi: 10.1038/s41582-022-00740-8.
PMID: 36302977 No abstract available.
Interactions of dopamine, iron, and alpha-synuclein linked to dopaminergic neuron vulnerability in Parkinson’s disease and Neurodegeneration with Brain Iron Accumulation disorders.
Wise RM, Wagener A, Fietzek UM, Klopstock T, Mosharov EV, Zucca FA, Sulzer D, Zecca L, Burbulla LF.
Neurobiol Dis. 2022 Dec;175:105920. doi: 10.1016/j.nbd.2022.105920. Epub 2022 Nov 7.
PMID: 36351559 Review.
Clinical management guidelines for Friedreich ataxia: best practice in rare diseases.
Corben LA, Collins V, Milne S, Farmer J, Musheno A, Lynch D, Subramony S, Pandolfo M, Schulz JB, Lin K, Delatycki MB; Clinical Management Guidelines Writing Group.
Orphanet J Rare Dis. 2022 Nov 12;17(1):415. doi: 10.1186/s13023-022-02568-3.
PMID: 36371255 Free PMC article.
Cortical Pathology in Vanishing White Matter.
Man JHK, van Gelder CAGH, Breur M, Okkes D, Molenaar D, van der Sluis S, Abbink T, Altelaar M, van der Knaap MS, Bugiani M.
Cells. 2022 Nov 12;11(22):3581. doi: 10.3390/cells11223581.
PMID: 36429009 Free PMC article.
[The transition of children with rare diseases from pediatric to adult care].
Molnár MJ, Cs Sági J, Szabó L, Grosz Z.
Orv Hetil. 2022 Dec 18;163(51):2021-2026. doi: 10.1556/650.2022.32660. Print 2022 Dec 18.
PMID: 36528825 Hungarian.
Spastic Paraplegia and Cognitive Impairment Due to a De Novo Pathogenic Variant in Presenilin-1.
Muñoz E, Jodar M, Guerrero J, Compta Y, Perissinotti A, Álvarez-Mora MI, Falgàs N, Rodríguez-Revenga L, Sánchez-Valle R.
Mov Disord Clin Pract. 2022 Oct 23;10(1):148-150. doi: 10.1002/mdc3.13588. eCollection 2023 Jan.
PMID: 36699002 Free PMC article. No abstract available.
Mild Neurological Phenotype Associated with Hypomorphic Variants in the Ataxia-Telangiectasia Mutated Gene.
Caputi C, Federici G, Soddu S, Travaglini L, Piane M, Bertini E, Zanni G, Leuzzi V.
Mov Disord Clin Pract. 2022 Dec 10;10(1):124-129. doi: 10.1002/mdc3.13618. eCollection 2023 Jan.
PMID: 36704080
Preparing n-of-1 Antisense Oligonucleotide Treatments for Rare Neurological Diseases in Europe: Genetic, Regulatory, and Ethical Perspectives.
Synofzik M, van Roon-Mom WMC, Marckmann G, van Duyvenvoorde HA, Graessner H, Schüle R, Aartsma-Rus A.
Nucleic Acid Ther. 2022 Apr;32(2):83-94. doi: 10.1089/nat.2021.0039. Epub 2021 Sep 29.
PMID: 34591693
[Healthcare networks for people with rare diseases: integrating data and expertise].
Graessner H, Storf H, Schaefer F.
Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2022 Nov;65(11):1164-1169. doi: 10.1007/s00103-022-03592-1. Epub 2022 Sep 27.
PMID: 36167994
Development of a patient journey map for people living with cervical dystonia.
Benson M, Albanese A, Bhatia KP, Cavillon P, Cuffe L, König K, Reinhard C, Graessner H.
Orphanet J Rare Dis. 2022 Mar 21;17(1):130. doi: 10.1186/s13023-022-02270-4.
PMID: 35313909
Establishing and boosting communication in the European Reference Network for Rare Neurological Diseases (ERN-RND): the impact of offering free educational webinars.
Brunelle Praschberger A, Post AEM, Hermanns S, Graessner H.
Orphanet J Rare Dis. 2022 Mar 2;17(1):89. doi: 10.1186/s13023-022-02209-9.
PMID: 35236389
Recommendations for whole genome sequencing in diagnostics for rare diseases.
Souche E, Beltran S, Brosens E, Belmont JW, Fossum M, Riess O, Gilissen C, Ardeshirdavani A, Houge G, van Gijn M, Clayton-Smith J, Synofzik M, de Leeuw N, Deans ZC, Dincer Y, Eck SH, van der Crabben S, Balasubramanian M, Graessner H, Sturm M, Firth H, Ferlini A, Nabbout R, De Baere E, Liehr T, Macek M, Matthijs G, Scheffer H, Bauer P, Yntema HG, Weiss MM.
Eur J Hum Genet. 2022 Sep;30(9):1017-1021. doi: 10.1038/s41431-022-01113-x. Epub 2022 May 16.
PMID: 35577938
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.
Laurie S, Piscia D, Matalonga L, Corvó A, Fernández-Callejo M, Garcia-Linares C, Hernandez-Ferrer C, Luengo C, Martínez I, Papakonstantinou A, Picó-Amador D, Protasio J, Thompson R, Tonda R, Bayés M, Bullich G, Camps-Puchadas J, Paramonov I, Trotta JR, Alonso A, Attimonelli M, Béroud C, Bros-Facer V, Buske OJ, Cañada-Pallarés A, Fernández JM, Hansson MG, Horvath R, Jacobsen JOB, Kaliyaperumal R, Lair-Préterre S, Licata L, Lopes P, López-Martín E, Mascalzoni D, Monaco L, Pérez-Jurado LA, Posada de la Paz M, Rambla J, Rath A, Riess O, Robinson PN, Salgado D, Smedley D, Spalding D, ‘t Hoen PAC, Töpf A, Zaharieva I, Graessner H, Gut IG, Lochmüller H, Beltran S.
Hum Mutat. 2022 Jun;43(6):717-733. doi: 10.1002/humu.24353.
PMID: 35178824