2023 Publications acknowledging ERN-RND – ERN-RND | European Reference Network on Rare Neurological Diseases

The prodromal phase of hereditary spastic paraplegia type 4: the preSPG4 cohort study.
Rattay TW, Völker M, Rautenberg M, Kessler C, Wurster I, Winter N, Haack TB, Lindig T, Hengel H, Synofzik M, Schüle R, Martus P, Schöls L.
Brain. 2023 Mar 1;146(3):1093-1102. doi: 10.1093/brain/awac155.
PMID: 35472722

Expanding the natural history of CASK-related disorders to the prenatal period.
Gafner M, Boltshauser E, D’Abrusco F, Battini R, Romaniello R, D’Arrigo S, Zanni G, Leibovitz Z, Yosovich K, Lerman-Sagie T; Cask Study Group*.
Dev Med Child Neurol. 2023 Apr;65(4):544-550. doi: 10.1111/dmcn.15419. Epub 2022 Sep 29.
PMID: 36175354

Dystonia management across Europe within ERN-RND: current state and future challenges.
Centen LM, Pinter D, van Egmond ME, Graessner H, Kovacs N, Koy A, Perez-Dueñas B, Reinhard C, Tijssen MAJ, Boesch S.
J Neurol. 2023 Feb;270(2):797-809. doi: 10.1007/s00415-022-11412-4. Epub 2022 Oct 6.
PMID: 36201015 Free PMC article.

The frequency of non-motor symptoms in SCA3 and their association with disease severity and lifestyle factors.
Hengel H, Martus P, Faber J, Giunit P, Garcia-Moreno H, Solanky N, Klockgether T, Reetz K, van de Warrenburg BP, Santana MM, Silva P, Cunha I, de Almeida LP, Timmann D, Infante J, de Vries J, Lima M, Pires P, Bushara K, Jacobi H, Onyike C, Schmahmann JD, Hübener-Schmid J, Synofzik M; European Spinocerebellar Ataxia Type-3/Machado-Joseph Disease Initiative (ESMI) Study Group; Schöls L.
J Neurol. 2023 Feb;270(2):944-952. doi: 10.1007/s00415-022-11441-z. Epub 2022 Nov 2.
PMID: 36324033 Free PMC article.

Temporal dynamics predict symptom onset and cognitive decline in familial frontotemporal dementia.
Whiteside DJ, Malpetti M, Jones PS, Ghosh BCP, Coyle-Gilchrist I, van Swieten JC, Seelaar H, Jiskoot L, Borroni B, Sanchez-Valle R, Moreno F, Laforce R, Graff C, Synofzik M, Galimberti D, Masellis M, Tartaglia MC, Finger E, Vandenberghe R, de Mendonça A, Tagliavini F, Butler CR, Santana I, Ber IL, Gerhard A, Ducharme S, Levin J, Danek A, Otto M, Sorbi S, Pasquier F, Bouzigues A, Russell LL, Rohrer JD, Rowe JB, Rittman T; GENFI consortium.
Alzheimers Dement. 2023 May;19(5):1947-1962. doi: 10.1002/alz.12824. Epub 2022 Nov 15.
PMID: 36377606 Free PMC article.

Motor symptoms in genetic frontotemporal dementia: developing a new module for clinical rating scales.
Samra K, MacDougall AM, Peakman G, Bouzigues A, Bocchetta M, Cash DM, Greaves CV, Convery RS, van Swieten JC, Jiskoot L, Seelaar H, 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, Tiraboschi P, Santana I, Pasquier F, Levin J, Otto M, Sorbi S, Rohrer JD, Russell LL; Genetic FTD Initiative (GENFI).
J Neurol. 2023 Mar;270(3):1466-1477. doi: 10.1007/s00415-022-11442-y. Epub 2022 Nov 17.
PMID: 36385202 Free PMC article.

Loss of brainstem white matter predicts onset and motor neuron symptoms in C9orf72 expansion carriers: a GENFI study.
Pérez-Millan A, Borrego-Écija S, van Swieten JC, Jiskoot L, Moreno F, 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, Tiraboschi P, Seelaar H, Langheinrich T, Rohrer JD, Sala-Llonch R, Sánchez-Valle R; Genetic FTD Initiative, GENFI.
J Neurol. 2023 Mar;270(3):1573-1586. doi: 10.1007/s00415-022-11435-x. Epub 2022 Nov 29.
PMID: 36443488

Neurodevelopmental effects of genetic frontotemporal dementia in young adult mutation carriers.
Finger E, Malik R, Bocchetta M, Coleman K, Graff C, Borroni B, Masellis M, Laforce R, Greaves CV, Russell LL, Convery RS, Bouzigues A, Cash DM, Otto M, Synofzik M, Rowe JB, Galimberti D, Tiraboschi P, Bartha R, Shoesmith C, Tartaglia MC, van Swieten JC, Seelaar H, Jiskoot LC, Sorbi S, Butler CR, Gerhard A, Sanchez-Valle R, de Mendonça A, Moreno F, Vandenberghe R, Le Ber I, Levin J, Pasquier F, Santana I, Rohrer JD, Ducharme S; Genetic FTD Initiative, GENFI.
Brain. 2023 May 2;146(5):2120-2131. doi: 10.1093/brain/awac446.
PMID: 36458975

Language impairment in the genetic forms of behavioural variant frontotemporal dementia.
Samra K, MacDougall AM, Bouzigues A, Bocchetta M, Cash DM, Greaves CV, Convery RS, van Swieten JC, Seelaar H, 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, Tiraboschi P, Santana I, Pasquier F, Levin J, Otto M, Sorbi S, Rohrer JD, Russell LL; Genetic FTD Initiative (GENFI).
J Neurol. 2023 Apr;270(4):1976-1988. doi: 10.1007/s00415-022-11512-1. Epub 2022 Dec 20.
PMID: 36538154 Free PMC article.

Cerebellar and subcortical atrophy contribute to psychiatric symptoms in frontotemporal dementia.
Bussy A, Levy JP, Best T, Patel R, Cupo L, Van Langenhove T, Nielsen JE, Pijnenburg Y, Waldö ML, Remes AM, Schroeter ML, Santana I, Pasquier F, Otto M, Danek A, Levin J, Le Ber I, Vandenberghe R, Synofzik M, Moreno F, de Mendonça A, Sanchez-Valle R, Laforce R, Langheinrich T, Gerhard A, Graff C, Butler CR, Sorbi S, Jiskoot L, Seelaar H, van Swieten JC, Finger E, Tartaglia MC, Masellis M, Tiraboschi P, Galimberti D, Borroni B, Rowe JB, Bocchetta M, Rohrer JD, Devenyi GA, Chakravarty MM, Ducharme S; GENetic Frontotemporal dementia Initiative (GENFI).
Hum Brain Mapp. 2023 May;44(7):2684-2700. doi: 10.1002/hbm.26220. Epub 2023 Mar 9.
PMID: 36895129 Free PMC article.

Early neurotransmitters changes in prodromal frontotemporal dementia: A GENFI study.
Premi E, Pengo M, Mattioli I, Cantoni V, Dukart J, Gasparotti R, Buratti E, Padovani A, Bocchetta M, Todd EG, Bouzigues A, Cash DM, Convery RS, Russell LL, Foster P, Thomas DL, van Swieten JC, Jiskoot LC, Seelaar H, Galimberti D, Sanchez-Valle R, Laforce R Jr, Moreno F, Synofzik M, Graff C, Masellis M, Tartaglia MC, Rowe JB, Tsvetanov KA, Vandenberghe R, Finger E, Tiraboschi P, de Mendonça A, Santana I, Butler CR, Ducharme S, Gerhard A, Levin J, Otto M, Sorbi S, Le Ber I, Pasquier F, Rohrer JD, Borroni B; Genetic Frontotemporal dementia Initiative (GENFI).
Neurobiol Dis. 2023 Apr;179:106068. doi: 10.1016/j.nbd.2023.106068. Epub 2023 Mar 8.
PMID: 36898614

Management of rare movement diseases in different world regions.
Painous C, Martí MJ, Graessner H, Camargo AP, El-Jaafary SI, Martínez-Ramírez D, Ojo OO, Taiwo FT, Rajan R, Cornejo-Olivas M, Ayele BA, Tibar H, Kearney M, Gatto E, Tijssen MA, Rare Movement Disorders Study Group of the International Parkinson and Movement Disorder Society.
Parkinsonism Relat Disord. 2023 Mar:108:105286. doi: 10.1016/j.parkreldis.2023.105286. Epub 2023 Jan 14.
PMID: 36669905

Patient pathways for rare diseases in Europe: ataxia as an example.
Vallortigara J, Greenfield J, Hunt B, Hoffman D, Reinhard C, Graessner H, Federico A, Quoidbach V, Morris S, Giunti P.
Orphanet J Rare Dis. 2023 Oct 17;18(1):328. doi: 10.1186/s13023-023-02907-y.
PMID: 37848998

Tominersen in Adults with Manifest Huntington’s Disease.
McColgan P, Thobhani A, Boak L, Schobel SA, Nicotra A, Palermo G, Trundell D, Zhou J, Schlegel V, Sanwald Ducray P, Hawellek DJ, Dorn J, Simillion C, Lindemann M, Wheelock V, Durr A, Anderson KE, Long JD, Wild EJ, Landwehrmeyer GB, Leavitt BR, Tabrizi SJ, Doody R; GENERATION HD1 Investigators.
N Engl J Med. 2023 Dec 7;389(23):2203-2205. doi: 10.1056/NEJMc2300400.
PMID: 38055260 No abstract available.

A randomized double-blind clinical trial on safety and efficacy of tauroursodeoxycholic acid (TUDCA) as add-on treatment in patients affected by amyotrophic lateral sclerosis (ALS): the statistical analysis plan of TUDCA-ALS trial.
Lombardo FL, Spila Alegiani S, Mayer F, Cipriani M, Lo Giudice M, Ludolph AC, McDermott CJ, Corcia P, Van Damme P, Van den Berg LH, Hardiman O, Nicolini G, Vanacore N, Dickie B, Albanese A, Puopolo M; TUDCA-ALS Study Group.
Trials. 2023 Dec 5;24(1):792. doi: 10.1186/s13063-023-07638-w.
PMID: 38053196 Free PMC article. Clinical Trial.

Cerebellar volumetry in ataxias: Relation to ataxia severity and duration.
Ferreira M, Schaprian T, Kügler D, Reuter M, Deike-Hoffmann K, Timmann D, Ernst TM, Giunti P, Garcia-Moreno H, van de Warrenburg B, van Gaalen J, de Vries J, Jacobi H, Steiner KM, Öz G, Joers JM, Onyike C, Povazan M, Reetz K, Romanzetti S, Klockgether T, Faber J.
Res Sq [Preprint]. 2023 Nov 16:rs.3.rs-3605029. doi: 10.21203/rs.3.rs-3605029/v1.
PMID: 38014351 Free PMC article. Updated. Preprint.

Differential diagnosis of chorea (guidelines of the German Neurological Society).
Saft C, Burgunder JM, Dose M, Jung HH, Katzenschlager R, Priller J, Nguyen HP, Reetz K, Reilmann R, Seppi K, Landwehrmeyer GB.
Neurol Res Pract. 2023 Nov 23;5(1):63. doi: 10.1186/s42466-023-00292-2.
PMID: 37993913 Free PMC article.

Symptomatic treatment options for Huntington’s disease (guidelines of the German Neurological Society).
Saft C, Burgunder JM, Dose M, Jung HH, Katzenschlager R, Priller J, Nguyen HP, Reetz K, Reilmann R, Seppi K, Landwehrmeyer GB.
Neurol Res Pract. 2023 Nov 16;5(1):61. doi: 10.1186/s42466-023-00285-1.
PMID: 37968732 Free PMC article.

Altered plasma protein profiles in genetic FTD – a GENFI study.
Ullgren A, Öijerstedt L, Olofsson J, Bergström S, Remnestål J, van Swieten JC, Jiskoot LC, Seelaar H, Borroni B, Sanchez-Valle R, Moreno F, Laforce R, Synofzik M, Galimberti D, Rowe JB, Masellis M, Tartaglia MC, Finger E, Vandenberghe R, de Mendonça A, Tirabosch P, Santana I, Ducharme S, Butler CR, Gerhard A, Otto M, Bouzigues A, Russell L, Swift IJ, Sogorb-Esteve A, Heller C, Rohrer JD, Månberg A, Nilsson P, Graff C; Genetic Frontotemporal Dementia Initiative (GENFI).
Mol Neurodegener. 2023 Nov 15;18(1):85. doi: 10.1186/s13024-023-00677-6.
PMID: 37968725 Free PMC article.

Stage-Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3.
Faber J, Berger M, Wilke C, Hubener-Schmid J, Schaprian T, Santana MM, Grobe-Einsler M, Onder D, Koyak B, Giunti P, Garcia-Moreno H, Gonzalez-Robles C, Lima M, Raposo M, Melo ARV, de Almeida LP, Silva P, Pinto MM, van de Warrenburg BP, van Gaalen J, de Vries J, Oz G, Joers JM, Synofzik M, Schols L, Riess O, Infante J, Manrique L, Timmann D, Thieme A, Jacobi H, Reetz K, Dogan I, Onyike C, Povazan M, Schmahmann J, Ratai EM, Schmid M, Klockgether T.
Ann Neurol. 2024 Feb;95(2):400-406. doi: 10.1002/ana.26824. Epub 2023 Dec 5.
PMID: 37962377

Progressive Brain Atrophy in Multiple System Atrophy: A Longitudinal, Multicenter, Magnetic Resonance Imaging Study.
Krismer F, Péran P, Beliveau V, Seppi K, Arribarat G, Pavy-Le Traon A, Meissner WG, Foubert-Samier A, Fabbri M, Schocke MM, Gordon MF, Wenning GK, Poewe W, Rascol O, Scherfler C.
Mov Disord. 2024 Jan;39(1):119-129. doi: 10.1002/mds.29633. Epub 2023 Nov 7.
PMID: 37933745

Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND).
Nanetti L, Kearney M, Boesch S, Stovickova L, Ortigoza-Escobar JD, Macaya A, Gomez-Andres D, Roze E, Molnar MJ, Wolf NI, Darling A, Vasco G, Bertini E, Indelicato E, Neubauer D, Haack TB, Sagi JC, Danti FR, Sival D, Zanni G, Kolk A, Boespflug-Tanguy O, Schols L, van de Warrenburg B, Vidailhet M, Willemsen MA, Buizer AI, Orzes E, Ripp S, Reinhard C, Moroni I, Mariotti C; ERN-RND Working Group for Management of Transition.
Neurol Sci. 2024 Mar;45(3):1007-1016. doi: 10.1007/s10072-023-07101-3. Epub 2023 Oct 19.
PMID: 37853291

Longitudinal predictors of health-related quality of life in isolated dystonia.
Junker J, Hall J, Berman BD, Vidailhet M, Roze E, Bäumer T, Malaty IA, Shukla AW, Jankovic J, Reich SG, Espay AJ, Duque KR, Patel N, Perlmutter JS, Jinnah HA; Dystonia Coalition Study Group; Brandt V, Brüggemann N.
J Neurol. 2024 Feb;271(2):852-863. doi: 10.1007/s00415-023-12022-4. Epub 2023 Oct 15.
PMID: 37839041 Free PMC article.

Current management of primary mitochondrial disorders in EU countries: the European Reference Networks survey.
Mancuso M, Lopriore P, Lamperti C, Klopstock T, Rahman S, Licchetta L, Kornblum C, Wortmann SB, Dollfus H, Papadopoulou MT, Arzimanoglou A, Scarpa M, Graessner H, Evangelista T.
J Neurol. 2024 Feb;271(2):835-840. doi: 10.1007/s00415-023-12017-1. Epub 2023 Oct 13.
PMID: 37831128 Free PMC article.

Proprioceptive and tactile processing in individuals with Friedreich ataxia: an fMRI study.
Destrebecq V, Rovai A, Trotta N, Comet C, Naeije G.
Front Neurol. 2023 Sep 22;14:1224345. doi: 10.3389/fneur.2023.1224345. eCollection 2023.
PMID: 37808498 Free PMC article.

TDP-43 pathology is associated with increased tau burdens and seeding.
Tomé SO, Tsaka G, Ronisz A, Ospitalieri S, Gawor K, Gomes LA, Otto M, von Arnim CAF, Van Damme P, Van Den Bosch L, Ghebremedhin E, Laureyssen C, Sleegers K, Vandenberghe R, Rousseau F, Schymkowitz J, Thal DR.
Mol Neurodegener. 2023 Sep 30;18(1):71. doi: 10.1186/s13024-023-00653-0.
PMID: 37777806 Free PMC article.

Development and Validation of a Prognostic Model to Predict Overall Survival in Multiple System Atrophy.
Eschlboeck S, Goebel G, Eckhardt C, Fanciulli A, Raccagni C, Boesch S, Djamshidian A, Heim B, Mahlknecht P, Mair K, Nachbauer W, Scherfler C, Stockner H, Poewe W, Seppi K, Kiechl S, Wenning G, Krismer F; and the EMSA‐SG NHS Investigators; Barone P, Pellecchia MT, Quinn NP, Fowler CJ, Schrag A, Giladi N, Gurevich T, Ostergaard K, Widner H, Oertel W, Albanese A, Tolosa E, Deuschl G, Klockgether T, Dodel R, Sampaio C, Melamed E, Gasser T, Colosimo C, Rascol O, Meissner W, Tison F, Geser F, Duerr S, Boesch S, Köllensperger M, Koukouni V, Mathias CJ, Dupont E, Nilsson CF, Eggert KM, Del Sorbo F, Cardozo A, Hellriegel H, Coelho M, Djaldetti R, Kamm C, Meco G.
Mov Disord Clin Pract. 2023 Jul 17;10(9):1368-1376. doi: 10.1002/mdc3.13822. eCollection 2023 Sep.
PMID: 37772304 Free PMC article.

Health-Related Quality of Life in Patients with Spinocerebellar Ataxia: a Validation Study of the EQ-5D-3L.
Buchholz M, Weber N, Rädke A, Faber J, Schmitz-Hübsch T, Jacobi H, Xie F, Klockgether T, Michalowsky B; EUROSCA study group; ESMI study group.
Cerebellum. 2023 Sep 15. doi: 10.1007/s12311-023-01597-3. Online ahead of print.
PMID: 37713052

Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients.
Ashton C, Indelicato E, Pellerin D, Clément G, Danzi MC, Dicaire MJ, Bonnet C, Houlden H, Züchner S, Synofzik M, Lamont PJ, Renaud M, Boesch S, Brais B.
Brain Commun. 2023 Sep 10;5(5):fcad239. doi: 10.1093/braincomms/fcad239. eCollection 2023.
PMID: 37705681 Free PMC article.

Systematic review of drug therapy for chorea in NXK2-1-related disorders: Efficacy and safety evidence from case studies and series.
Nou-Fontanet L, Martín-Gómez C, Isabel-Gómez R, Bachoud-Lévi AC, Zorzi G, Capuano A; NKX2-1-Related Disorders Guideline Working Group; Blasco-Amaro JA, Ortigoza-Escobar JD.
Eur J Neurol. 2023 Dec;30(12):3928-3948. doi: 10.1111/ene.16038. Epub 2023 Sep 11.
PMID: 37694681 Review.

Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data.
Lynch DR, Goldsberry A, Rummey C, Farmer J, Boesch S, Delatycki MB, Giunti P, Hoyle JC, Mariotti C, Mathews KD, Nachbauer W, Perlman S, Subramony SH, Wilmot G, Zesiewicz T, Weissfeld L, Meyer C.
Ann Clin Transl Neurol. 2024 Jan;11(1):4-16. doi: 10.1002/acn3.51897. Epub 2023 Sep 10.
PMID: 37691319 Free PMC article.

Generation of two human iPSC lines from dermal fibroblasts of adult- and juvenile-onset Huntington’s disease patients and two healthy donors.
Piechota M, Latoszek E, Liszewska E, Hansíková H, Klempíř J, Mühlbäck A, Landwehrmeyer GB, Kuźnicki J, Czeredys M.
Stem Cell Res. 2023 Sep;71:103194. doi: 10.1016/j.scr.2023.103194. Epub 2023 Aug 25.
PMID: 37651831

Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onset.
Porcu L, Fichera M, Nanetti L, Rulli E, Giunti P, Parkinson MH, Durr A, Ewenczyk C, Boesch S, Nachbauer W, Indelicato E, Klopstock T, Stendel C, Rodríguez de Rivera FJ, Schöls L, Fleszar Z, Giordano I, Didszun C, Castaldo A, Rai M, Klockgether T, Pandolfo M, Schulz JB, Reetz K, Mariotti C; EFACTS Study Group.
Ann Clin Transl Neurol. 2023 Nov;10(11):2000-2012. doi: 10.1002/acn3.51886. Epub 2023 Aug 28.
PMID: 37641437 Free PMC article.

Core protocol development for phase 2/3 clinical trials in the leukodystrophy vanishing white matter: a consensus statement by the VWM consortium and patient advocates.
Schoenmakers DH, Leferink PS, Vanderver A, Bonkowsky JL, Krägeloh-Mann I, Bernard G, Bertini E, Fatemi A, Fogel BL, Wolf NI, Skwirut D, Buck A, Holberg B, Saunier-Vivar EF, Rauner R, Dekker H, van Bokhoven P, Stellingwerff MD, Berkhof J, van der Knaap MS.
BMC Neurol. 2023 Aug 17;23(1):305. doi: 10.1186/s12883-023-03354-9.
PMID: 37592248 Free PMC article.

Genetic topography and cortical cell loss in Huntington’s disease link development and neurodegeneration.
Estevez-Fraga C, Altmann A, Parker CS, Scahill RI, Costa B, Chen Z, Manzoni C, Zarkali A, Durr A, Roos RAC, Landwehrmeyer B, Leavitt BR, Rees G, Tabrizi SJ, McColgan P.
Brain. 2023 Nov 2;146(11):4532-4546. doi: 10.1093/brain/awad275.
PMID: 37587097 Free PMC article.

Methods to Discover and Validate Biofluid-Based Biomarkers in Neurodegenerative Dementias.
Teunissen CE, Kimble L, Bayoumy S, Bolsewig K, Burtscher F, Coppens S, Das S, Gogishvili D, Fernandes Gomes B, Gómez de San José N, Mavrina E, Meda FJ, Mohaupt P, Mravinacová S, Waury K, Wojdała AL, Abeln S, Chiasserini D, Hirtz C, Gaetani L, Vermunt L, Bellomo G, Halbgebauer S, Lehmann S, Månberg A, Nilsson P, Otto M, Vanmechelen E, Verberk IMW, Willemse E, Zetterberg H; MIRIADE consortium.
Mol Cell Proteomics. 2023 Oct;22(10):100629. doi: 10.1016/j.mcpro.2023.100629. Epub 2023 Aug 7.
PMID: 37557955 Free PMC article.

Patient-reported, health economic and psychosocial outcomes in patients with Friedreich ataxia (PROFA): protocol of an observational study using momentary data assessments via mobile health app.
Buchholz M, Weber N, Borel S, Sayah S, Xie F, Schulz JB, Reetz K, Boesch S, Klopstock T, Karin I, Schöls L, Grobe-Einsler M, Klockgether T, Davies EH, Schmeder M, Nadke A, Michalowsky B.
BMJ Open. 2023 Aug 1;13(8):e075736. doi: 10.1136/bmjopen-2023-075736.
PMID: 37527887 Free PMC article.

Scoping Review on ADCY5-Related Movement Disorders.
Menon PJ, Nilles C, Silveira-Moriyama L, Yuan R, de Gusmao CM, Münchau A, Carecchio M, Grossman S, Grossman G, Méneret A, Roze E, Pringsheim T.
Mov Disord Clin Pract. 2023 Jun 6;10(7):1048-1059. doi: 10.1002/mdc3.13796. eCollection 2023 Jul.
PMID: 37476318 Free PMC article. Review.

Measuring cognitive impairment and monitoring cognitive decline in Huntington’s disease: a comparison of assessment instruments.
Horta-Barba A, Martinez-Horta S, Pérez-Pérez J, Puig-Davi A, de Lucia N, de Michele G, Salvatore E, Kehrer S, Priller J, Migliore S, Squitieri F, Castaldo A, Mariotti C, Mañanes V, Lopez-Sendon JL, Rodriguez N, Martinez-Descals A, Júlio F, Januário C, Delussi M, de Tommaso M, Noguera S, Ruiz-Idiago J, Sitek EJ, Wallner R, Nuzzi A, Pagonabarraga J, Kulisevsky J; Cognitive Phenotype Working Group of the European Huntington’s Disease Network.
J Neurol. 2023 Nov;270(11):5408-5417. doi: 10.1007/s00415-023-11804-0. Epub 2023 Jul 18.
PMID: 37462754 Free PMC article.

Prodromal language impairment in genetic frontotemporal dementia within the GENFI cohort.
Samra K, MacDougall AM, Bouzigues A, Bocchetta M, Cash DM, Greaves CV, Convery RS, van Swieten JC, Jiskoot L, Seelaar H, 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, Tiraboschi P, Santana I, Pasquier F, Levin J, Otto M, Sorbi S, Rohrer JD, Russell LL; Genetic FTD Initiative (GENFI).
J Neurol Sci. 2023 Aug 15;451:120711. doi: 10.1016/j.jns.2023.120711. Epub 2023 Jun 10.
PMID: 37348248

Establishing normative data for the evaluation of cognitive performance in Huntington’s disease considering the impact of gender, age, language, and education.
Mühlbäck A, Mana J, Wallner M, Frank W, Lindenberg KS, Hoffmann R, Klempířová O, Klempíř J, Landwehrmeyer GB, Bezdicek O; REGISTRY investigators of the European Huntington’s Disease Network, the Enroll-HD investigators.
J Neurol. 2023 Oct;270(10):4903-4913. doi: 10.1007/s00415-023-11823-x. Epub 2023 Jun 22.
PMID: 37347292 Free PMC article.

Study protocol of IMAGINE-HD: Imaging iron accumulation and neuroinflammation with 7T-MRI + CSF in Huntington’s disease.
van de Zande NA, Bulk M, Najac C, van der Weerd L, de Bresser J, Lewerenz J, Ronen I, de Bot ST.
Neuroimage Clin. 2023;39:103450. doi: 10.1016/j.nicl.2023.103450. Epub 2023 Jun 8.
PMID: 37327706 Free PMC article.

Neuroimaging-based analysis of DBS outcomes in pediatric dystonia: Insights from the GEPESTIM registry.
Al-Fatly B, Giesler SJ, Oxenford S, Li N, Dembek TA, Achtzehn J, Krause P, Visser-Vandewalle V, Krauss JK, Runge J, Tadic V, Bäumer T, Schnitzler A, Vesper J, Wirths J, Timmermann L, Kühn AA, Koy A; GEPESTIM consortium.
Neuroimage Clin. 2023;39:103449. doi: 10.1016/j.nicl.2023.103449. Epub 2023 Jun 10.
PMID: 37321142 Free PMC article.

Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
Cunha P, Petit E, Coutelier M, Coarelli G, Mariotti C, Faber J, Van Gaalen J, Damasio J, Fleszar Z, Tosi M, Rocca C, De Michele G, Minnerop M, Ewenczyk C, Santorelli FM, Heinzmann A, Bird T, Amprosi M, Indelicato E, Benussi A, Charles P, Stendel C, Romano S, Scarlato M, Le Ber I, Bassi MT, Serrano M, Schmitz-Hübsch T, Doss S, Van Velzen GAJ, Thomas Q, Trabacca A, Ortigoza-Escobar JD, D’Arrigo S, Timmann D, Pantaleoni C, Martinuzzi A, Besse-Pinot E, Marsili L, Cioffi E, Nicita F, Giorgetti A, Moroni I, Romaniello R, Casali C, Ponger P, Casari G, De Bot ST, Ristori G, Blumkin L, Borroni B, Goizet C, Marelli C, Boesch S, Anheim M, Filla A, Houlden H, Bertini E, Klopstock T, Synofzik M, Riant F, Zanni G, Magri S, Di Bella D, Nanetti L, Sequeiros J, Oliveira J, Van de Warrenburg B, Schöls L, Taroni F, Brice A, Durr A.
Am J Hum Genet. 2023 Jul 6;110(7):1098-1109. doi: 10.1016/j.ajhg.2023.05.009. Epub 2023 Jun 9.
PMID: 37301203 Free PMC article.

Standards of Fluid Biomarker Collection and Pre-analytical Processes in Humans and Mice: Recommendations by the Ataxia Global Initiative Working Group on Biomarkers.
Santorelli FM, McLoughlin HS, Wolter JM, Galatolo D, Synofzik M, Mengel D, Opal P; AGI-WG2-Biomarkers Study Group.
Cerebellum. 2023 May 27. doi: 10.1007/s12311-023-01561-1. Online ahead of print.
PMID: 37243885

Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients.
Traschütz A, Adarmes-Gómez AD, Anheim M, Baets J, Brais B, Gagnon C, Gburek-Augustat J, Doss S, Hanağası HA, Kamm C, Klivenyi P, Klockgether T, Klopstock T, Minnerop M, Münchau A, Renaud M, Santorelli FM, Schöls L, Thieme A, Vielhaber S, van de Warrenburg BP, Zanni G, Hilgers RD; PREPARE Consortium; Synofzik M.
Ann Neurol. 2023 Sep;94(3):470-485. doi: 10.1002/ana.26712. Epub 2023 Jun 12.
PMID: 37243847

Transitional Care for Young People with Movement Disorders: Consensus-Based Recommendations from the MDS Task Force on Pediatrics.
Pringsheim T, Batla A, Shalash A, Sahu JK, Cosentino C, Ebrahimi-Fakhari D, Friedman J, Lin JP, Mink J, Munchau A, Munoz D, Nardocci N, Perez-Dueñas B, Sardar Z, Triki C, Ben-Pazi H, Silveira-Moriyama L, Troncoso-Schifferli M, Hoshino K, Dale RC, Fung VSC, Kurian MA, Roze E.
Mov Disord Clin Pract. 2023 Apr 4;10(5):748-755. doi: 10.1002/mdc3.13728. eCollection 2023 May.
PMID: 37205244 Free PMC article. Review.

Towards the international interoperability of clinical research networks for rare diseases: recommendations from the IRDiRC Task Force.
Nabbout R, Zanello G, Baker D, Black L, Brambilla I, Buske OJ, Conklin LS, Davies EH, Julkowska D, Kim Y, Klopstock T, Nakamura H, Nielsen KG, Pariser AR, Pastor JC, Scarpa M, Smith M, Taruscio D, Groft S.
Orphanet J Rare Dis. 2023 May 9;18(1):109. doi: 10.1186/s13023-023-02650-4.
PMID: 37161573 Free PMC article.

Impact of APOE Genotype on Cognition in Idiopathic and Genetic Forms of Parkinson’s Disease.
Koros C, Brockmann K, Simitsi AM, Bougea A, Liu H, Hauser AK, Schulte C, Lerche S, Pachi I, Papagiannakis N, Antonelou R, Zahou A, Wurster I, Efthymiopoulou E, Beratis I, Maniati M, Moraitou M, Michelakakis H, Paraskevas G, Papageorgiou SG, Potagas C, Papadimitriou D, Bozi M, Stamelou M, Gasser T, Stefanis L.
Mov Disord. 2023 May;38(5):907-909. doi: 10.1002/mds.29399. Epub 2023 May 6.
PMID: 37148559 No abstract available.

C9ORF72 knockdown triggers FTD-like symptoms and cell pathology in mice.
Lopez-Herdoiza MB, Bauché S, Wilmet B, Le Duigou C, Roussel D, Frah M, Béal J, Devely G, Boluda S, Frick P, Bouteiller D, Dussaud S, Guillabert P, Dalle C, Dumont M, Camuzat A, Saracino D, Barbier M, Bruneteau G, Ravassard P, Neumann M, Nicole S, Le Ber I, Brice A, Latouche M.
Front Cell Neurosci. 2023 Apr 17;17:1155929. doi: 10.3389/fncel.2023.1155929. eCollection 2023.
PMID: 37138765 Free PMC article.

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing.
Yaldiz B, Kucuk E, Hampstead J, Hofste T, Pfundt R, Corominas Galbany J, Rinne T, Yntema HG, Hoischen A, Nelen M, Gilissen C; Solve-RD consortium.
Hum Genomics. 2023 May 3;17(1):39. doi: 10.1186/s40246-023-00485-5.
PMID: 37138343 Free PMC article.

Quantitative Oculomotor Assessment in Hereditary Ataxia: Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital-motor Biomarkers.
Garces P, Antoniades CA, Sobanska A, Kovacs N, Ying SH, Gupta AS, Perlman S, Szmulewicz DJ, Pane C, Németh AH, Jardim LB, Coarelli G, Dankova M, Traschütz A, Tarnutzer AA.
Cerebellum. 2023 Apr 28. doi: 10.1007/s12311-023-01559-9. Online ahead of print.
PMID: 37117990

The Expanding Phenotypical Spectrum of WARS2-Related Disorder: Four Novel Cases with a Common Recurrent Variant.
Pauly MG, Korenke GC, Diaw SH, Grözinger A, Cazurro-Gutiérrez A, Pérez-Dueñas B, González V, Macaya A, Serrano Antón AT, Peterlin B, Božović IB, Maver A, Münchau A, Lohmann K.
Genes (Basel). 2023 Mar 29;14(4):822. doi: 10.3390/genes14040822.
PMID: 37107582 Free PMC article. Review.

Blood transcriptome sequencing identifies biomarkers able to track disease stages in spinocerebellar ataxia type 3.
Raposo M, Hübener-Schmid J, Ferreira AF, Vieira Melo AR, Vasconcelos J, Pires P, Kay T, Garcia-Moreno H, Giunti P, Santana MM, Pereira de Almeida L, Infante J, van de Warrenburg BP, de Vries JJ, Faber J, Klockgether T, Casadei N, Admard J, Schöls L; European Spinocerebellar ataxia type 3/Machado-Joseph disease Initiative (ESMI) study group; Riess O, Lima M.
Brain. 2023 Oct 3;146(10):4132-4143. doi: 10.1093/brain/awad128.
PMID: 37071051

Chromosome Microarray Analysis for the Investigation of Deletions in Pediatric Movement Disorders: A Systematic Review of the Literature.
Soliani L, Alcalá San Martín A, Balsells S, Hernando-Davalillo C, Ortigoza-Escobar JD.
Mov Disord Clin Pract. 2023 Mar 16;10(4):547-557. doi: 10.1002/mdc3.13711. eCollection 2023 Apr.
PMID: 37070051 Free PMC article. Review.

Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients.
Traschütz A, Adarmes-Gomez AD, Anheim M, Baets J, Falkenburger BH, Gburek-Augustat J, Doss S, Kamm C, Klivenyi P, Grobe-Einsler M, Klopstock T, Minnerop M, Münchau A, Pane C, Renaud M, Santorelli FM, Schöls L, Timmann D, Vielhaber S, Haack TB, van de Warrenburg BP, Zanni G, Synofzik M.
Mov Disord. 2023 Jun;38(6):1109-1112. doi: 10.1002/mds.29397. Epub 2023 Apr 7.
PMID: 37027459 No abstract available.

Consensus Recommendations for Clinical Outcome Assessments and Registry Development in Ataxias: Ataxia Global Initiative (AGI) Working Group Expert Guidance.
Klockgether T, Synofzik M; AGI working group on COAs and Registries.
Cerebellum. 2023 Apr 5. doi: 10.1007/s12311-023-01547-z. Online ahead of print.
PMID: 37020147 Review.

Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14.
Jackson A, Lin SJ, Jones EA, Chandler KE, Orr D, Moss C, Haider Z, Ryan G, Holden S, Harrison M, Burrows N, Jones WD, Loveless M, Petree C, Stewart H, Low K, Donnelly D, Lovell S, Drosou K; Genomics England Research Consortium; Solve-RD consortium; Varshney GK, Banka S.
HGG Adv. 2023 Mar 3;4(2):100186. doi: 10.1016/j.xhgg.2023.100186. eCollection 2023 Apr 13.
PMID: 37009414 Free PMC article.

SCAview: an Intuitive Visual Approach to the Integrative Analysis of Clinical Data in Spinocerebellar Ataxias.
Uebachs M, Wegner P, Schaaf S, Kugai S, Jacobi H, Kuo SH, Ashizawa T, Fluck J; EUROSCA study group; ESMI study group; RISCA study group; CRC-SCA study group; SCA Registry study group; Klockgether T, Faber J.
Cerebellum. 2023 Mar 31:10.1007/s12311-023-01546-0. doi: 10.1007/s12311-023-01546-0. Online ahead of print.
PMID: 37002505

Isolated Cervical Dystonia: Diagnosis and Classification.
Albanese A, Bhatia KP, Cardoso F, Comella C, Defazio G, Fung VSC, Hallett M, Jankovic J, Jinnah HA, Kaji R, Krauss JK, Lang A, Tan EK, Tijssen MAJ, Vidailhet M.
Mov Disord. 2023 Aug;38(8):1367-1378. doi: 10.1002/mds.29387. Epub 2023 Mar 29.
PMID: 36989390 Review.

Structural MRI predicts clinical progression in presymptomatic genetic frontotemporal dementia: findings from the GENetic Frontotemporal dementia Initiative cohort.
Bocchetta M, Todd EG, Bouzigues A, Cash DM, Nicholas JM, Convery RS, Russell LL, Thomas DL, Malone IB, Iglesias JE, van Swieten JC, Jiskoot LC, Seelaar H, Borroni B, Galimberti D, Sanchez-Valle R, Laforce R, Moreno F, Synofzik M, Graff C, Masellis M, Tartaglia MC, Rowe JB, Vandenberghe R, Finger E, Tagliavini F, de Mendonça A, Santana I, Butler CR, Ducharme S, Gerhard A, Danek A, Levin J, Otto M, Sorbi S, Le Ber I, Pasquier F, Rohrer JD; Genetic Frontotemporal dementia Initiative (GENFI).
Brain Commun. 2023 Mar 10;5(2):fcad061. doi: 10.1093/braincomms/fcad061. eCollection 2023.
PMID: 36970046 Free PMC article.

COVID19-associated new-onset movement disorders: a follow-up study.
Schneider SA, Desai S, Phokaewvarangkul O, Rosca EC, Sringean J, Anand P, Bravo GÁ, Cardoso F, Cervantes-Arslanian AM, Chovatiya H, Crosiers D, Dijkstra F, Fearon C, Grandas F, Guedj E, Méndez-Guerrero A, Hassan M, Jankovic J, Lang AE, Makhoul K, Muccioli L, O’Shea SA, Ostovan VR, Perez-Sanchez JR, Ramdhani R, Ros-Castelló V, Schulte C, Shah P, Wojtecki L, Pal PK.
J Neurol. 2023 May;270(5):2409-2415. doi: 10.1007/s00415-023-11661-x. Epub 2023 Mar 21.
PMID: 36943516 Free PMC article.

Genetic forms of primary progressive aphasia within the GENetic Frontotemporal dementia Initiative (GENFI) cohort: comparison with sporadic primary progressive aphasia.
Samra K, MacDougall AM, Bouzigues A, Bocchetta M, Cash DM, Greaves CV, Convery RS, Hardy C, van Swieten JC, Seelaar H, 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, Santana I, Pasquier F, Levin J, Otto M, Sorbi S, Warren JD, Rohrer JD, Russell LL; GENetic Frontotemporal dementia Initiative (GENFI).
Brain Commun. 2023 Feb 17;5(2):fcad036. doi: 10.1093/braincomms/fcad036. eCollection 2023.
PMID: 36938528 Free PMC article.

Progressive alterations in white matter microstructure across the timecourse of Huntington’s disease.
Estevez-Fraga C, Elmalem MS, Papoutsi M, Durr A, Rees EM, Hobbs NZ, Roos RAC, Landwehrmeyer B, Leavitt BR, Langbehn DR, Scahill RI, Rees G, Tabrizi SJ, Gregory S.
Brain Behav. 2023 Apr;13(4):e2940. doi: 10.1002/brb3.2940. Epub 2023 Mar 14.
PMID: 36917716 Free PMC article.

Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort.
de Bruyn A, Montagnese F, Holm-Yildiz S, Scharff Poulsen N, Stojkovic T, Behin A, Palmio J, Jokela M, De Bleecker JL, de Visser M, van der Kooi AJ, Ten Dam L, Domínguez González C, Maggi L, Gallone A, Kostera-Pruszczyk A, Macias A, Łusakowska A, Nedkova V, Olive M, Álvarez-Velasco R, Wanschitz J, Paradas C, Mavillard F, Querin G, Fernández-Eulate G, Quinlivan R, Walter MC, Depuydt CE, Udd B, Vissing J, Schoser B, Claeys KG.
Brain. 2023 Sep 1;146(9):3800-3815. doi: 10.1093/brain/awad088.
PMID: 36913258

Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative.
Beijer D, Fogel BL, Beltran S, Danzi MC, Németh AH, Züchner S, Synofzik M; AGI Ataxia NGS genomics, platforms Working Group.
Cerebellum. 2024 Apr;23(2):391-400. doi: 10.1007/s12311-023-01537-1. Epub 2023 Mar 4.
PMID: 36869969 Free PMC article.

Expanding the Spectrum of NUBPL-Related Leukodystrophy.
Tonduti D, Zambon AA, Ghezzi D, Lamantea E, Izzo R, Parazzini C, Baldoli C, van der Knaap MS, Fumagalli F.
Neuropediatrics. 2023 Jun;54(3):161-166. doi: 10.1055/s-0043-1764214. Epub 2023 Mar 3.
PMID: 36868263 Review.

Variants in ATP5F1B are associated with dominantly inherited dystonia.
Nasca A, Mencacci NE, Invernizzi F, Zech M, Keller Sarmiento IJ, Legati A, Frascarelli C, Bustos BI, Romito LM, Krainc D, Winkelmann J, Carecchio M, Nardocci N, Zorzi G, Prokisch H, Lubbe SJ, Garavaglia B, Ghezzi D.
Brain. 2023 Jul 3;146(7):2730-2738. doi: 10.1093/brain/awad068.
PMID: 36860166 Free PMC article.

The Benson Complex Figure Test detects deficits in visuoconstruction and visual memory in symptomatic familial frontotemporal dementia: A GENFI study.
Jiskoot LC, Russell LL, Peakman G, Convery RS, Greaves CV, Bocchetta M, Poos JM, Seelaar H, Giannini LAA, van Swieten JC, van Minkelen R, Pijnenburg YAL, Rowe JB, Borroni B, Galimberti D, Masellis M, Tartaglia C, Finger E, Butler CR, Graff C, Laforce R Jr, Sanchez-Valle R, de Mendonça A, Moreno F, Synofzik M, Vandenberghe R, Ducharme S, le Ber I, Levin J, Otto M, Pasquier F, Santana I, Cash DM, Thomas D, Rohrer JD; Genetic Frontotemporal dementia Initiative (GENFI).
J Neurol Sci. 2023 Mar 15;446:120590. doi: 10.1016/j.jns.2023.120590. Epub 2023 Feb 16.
PMID: 36812822

Key priorities in rare neurological diseases: A statement from the Coordinating Panel on Rare Neurological Diseases of the European Academy of Neurology.
Mancuso M, Graessner H, de Visser M, Arsovska A, Bhatia K.
Eur J Neurol. 2023 Jun;30(6):1553-1554. doi: 10.1111/ene.15752. Epub 2023 Mar 12.
PMID: 36807474 No abstract available.

Exploring the values, preferences, and information needs of patients with NKX2-1-related disorders: A qualitative study protocol.
Martín-Gómez C, Ortigoza-Escobar JD, Nou-Fontanet L, Molina-Linde JM, Bachoud-Lévi AC, Léger J, Blasco-Amaro JA; NKX2-1-Related Disorders Guideline Working Group.
PLoS One. 2023 Feb 9;18(2):e0281573. doi: 10.1371/journal.pone.0281573. eCollection 2023.
PMID: 36758103 Free PMC article.

Incidence of Syndromes Associated With Frontotemporal Lobar Degeneration in 9 European Countries.
Logroscino G, Piccininni M, Graff C, Hardiman O, Ludolph AC, Moreno F, Otto M, Remes AM, Rowe JB, Seelaar H, Solje E, Stefanova E, Traykov L, Jelic V, Rydell MT, Pender N, Anderl-Straub S, Barandiaran M, Gabilondo A, Krüger J, Murley AG, Rittman T, van der Ende EL, van Swieten JC, Hartikainen P, Stojmenovic GM, Mehrabian S, Benussi L, Alberici A, Dell’Abate MT, Zecca C, Borroni B; FRONTIERS group.
JAMA Neurol. 2023 Mar 1;80(3):279-286. doi: 10.1001/jamaneurol.2022.5128.
PMID: 36716024 Free PMC article.

Quality of life, health-related quality of life, and associated factors in Huntington’s disease: a systematic review.
van Lonkhuizen PJC, Frank W, Heemskerk AW, van Duijn E, de Bot ST, Mühlbäck A, Landwehrmeyer GB, Chavannes NH, Meijer E; HEALTHE-RND consortium.
J Neurol. 2023 May;270(5):2416-2437. doi: 10.1007/s00415-022-11551-8. Epub 2023 Jan 30.
PMID: 36715747 Free PMC article. Review.

Gait-Adaptability Training in People With Hereditary Spastic Paraplegia: A Randomized Clinical Trial.
van de Venis L, van de Warrenburg B, Weerdesteyn V, Geurts ACH, Nonnekes J.
Neurorehabil Neural Repair. 2023 Jan;37(1):27-36. doi: 10.1177/15459683221147839. Epub 2023 Jan 25.
PMID: 36695288 Free PMC article. Clinical Trial.

Embracing Monogenic Parkinson’s Disease: The MJFF Global Genetic PD Cohort.
Vollstedt EJ, Schaake S, Lohmann K, Padmanabhan S, Brice A, Lesage S, Tesson C, Vidailhet M, Wurster I, Hentati F, Mirelman A, Giladi N, Marder K, Waters C, Fahn S, Kasten M, Brüggemann N, Borsche M, Foroud T, Tolosa E, Garrido A, Annesi G, Gagliardi M, Bozi M, Stefanis L, Ferreira JJ, Correia Guedes L, Avenali M, Petrucci S, Clark L, Fedotova EY, Abramycheva NY, Alvarez V, Menéndez-González M, Jesús Maestre S, Gómez-Garre P, Mir P, Belin AC, Ran C, Lin CH, Kuo MC, Crosiers D, Wszolek ZK, Ross OA, Jankovic J, Nishioka K, Funayama M, Clarimon J, Williams-Gray CH, Camacho M, Cornejo-Olivas M, Torres-Ramirez L, Wu YR, Lee-Chen GJ, Morgadinho A, Pulkes T, Termsarasab P, Berg D, Kuhlenbäumer G, Kühn AA, Borngräber F, de Michele G, De Rosa A, Zimprich A, Puschmann A, Mellick GD, Dorszewska J, Carr J, Ferese R, Gambardella S, Chase B, Markopoulou K, Satake W, Toda T, Rossi M, Merello M, Lynch T, Olszewska DA, Lim SY, Ahmad-Annuar A, Tan AH, Al-Mubarak B, Hanagasi H, Koziorowski D, Ertan S, Genç G, de Carvalho Aguiar P, Barkhuizen M, Pimentel MMG, Saunders-Pullman R, van de Warrenburg B, Bressman S, Toft M, Appel-Cresswell S, Lang AE, Skorvanek M, Boon AJW, Krüger R, Sammler EM, Tumas V, Zhang BR, Garraux G, Chung SJ, Kim YJ, Winkelmann J, Sue CM, Tan EK, Damásio J, Klivényi P, Kostic VS, Arkadir D, Martikainen M, Borges V, Hertz JM, Brighina L, Spitz M, Suchowersky O, Riess O, Das P, Mollenhauer B, Gatto EM, Petersen MS, Hattori N, Wu RM, Illarioshkin SN, Valente EM, Aasly JO, Aasly A, Alcalay RN, Thaler A, Farrer MJ, Brockmann K, Corvol JC, Klein C; MJFF Global Genetic Parkinson’s Disease Study Group.
Mov Disord. 2023 Feb;38(2):286-303. doi: 10.1002/mds.29288. Epub 2023 Jan 24.
PMID: 36692014

Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled phase 2-3 trial.
Köhler W, Engelen M, Eichler F, Lachmann R, Fatemi A, Sampson J, Salsano E, Gamez J, Molnar MJ, Pascual S, Rovira M, Vilà A, Pina G, Martín-Ugarte I, Mantilla A, Pizcueta P, Rodríguez-Pascau L, Traver E, Vilalta A, Pascual M, Martinell M, Meya U, Mochel F; ADVANCE Study Group.
Lancet Neurol. 2023 Feb;22(2):127-136. doi: 10.1016/S1474-4422(22)00495-1.
PMID: 36681445 Clinical Trial.

Analysis of deep brain stimulation of the subthalamic nucleus (STN-DBS) in patients with monogenic PRKN and LRRK2 forms of Parkinson’s disease.
Prendes Fernández P, Blázquez Estrada M, Sol Álvarez J, Álvarez Martínez V, Suárez San Martín E, García Fernández C, Álvarez Carriles JC, Lozano Aragoneses B, Saiz Ayala A, Santamarta Liébana E, González Álvarez L.
Parkinsonism Relat Disord. 2023 Feb;107:105282. doi: 10.1016/j.parkreldis.2023.105282. Epub 2023 Jan 11.
PMID: 36657280

Quantitative Oculomotor Assessment in Hereditary Ataxia: Discriminatory Power, Correlation with Severity Measures, and Recommended Parameters for Specific Genotypes.
Garces P, Antoniades CA, Sobanska A, Kovacs N, Ying SH, Gupta AS, Perlman S, Szmulewicz DJ, Pane C, Németh AH, Jardim LB, Coarelli G, Dankova M, Traschütz A, Tarnutzer AA.
Cerebellum. 2024 Feb;23(1):121-135. doi: 10.1007/s12311-023-01514-8. Epub 2023 Jan 14.
PMID: 36640220 Free PMC article.

Neuropsychiatric symptoms in genetic frontotemporal dementia: developing a new module for Clinical Rating Scales.
Samra K, Macdougall A, Peakman G, Bouzigues A, Bocchetta M, Cash DM, Greaves CV, Convery RS, van Swieten JC, Jiskoot LC, Seelaar H, Moreno F, Sánchez-Valle R, Laforce R, Graff C, Masellis M, Tartaglia MC, Rowe JB, Borroni B, Finger E, Synofzik M, Galimberti D, Vandenberghe R, de Mendonca A, Butler CR, Gerhard A, Ducharme S, Le Ber I, Tiraboschi P, Santana I, Pasquier F, Levin J, Otto M, Sorbi S, Rohrer JD, Russell LL; Genetic FTD Initiative (GENFI); Genetic FTDInitiative (GENFI).
J Neurol Neurosurg Psychiatry. 2023 May;94(5):357-368. doi: 10.1136/jnnp-2022-330152. Epub 2023 Jan 10.
PMID: 36627201 Free PMC article.

Frequency of non-motor symptoms in Parkinson’s disease patients carrying the E326K and T369M GBA risk variants.
Usnich T, Olmedillas M, Schell N, Paul JJ, Curado F, Skobalj S, Csoti I, Ertan S, Gruber D, Zittel S, Sammler E, Isaacson SH, Kühn AA, Pedrosa DJ, Reetz K, Kasten M, Rolfs A, Bauer P, Skrahina V, Klein C, Brüggemann N; LIPAD Study Group.
Parkinsonism Relat Disord. 2023 Feb;107:105248. doi: 10.1016/j.parkreldis.2022.105248. Epub 2022 Dec 17.
PMID: 36565535 No abstract available.

Efficacy of Omaveloxolone in Friedreich’s Ataxia: Delayed-Start Analysis of the MOXIe Extension.
Lynch DR, Chin MP, Boesch S, Delatycki MB, Giunti P, Goldsberry A, Hoyle JC, Mariotti C, Mathews KD, Nachbauer W, O’Grady M, Perlman S, Subramony SH, Wilmot G, Zesiewicz T, Meyer CJ.
Mov Disord. 2023 Feb;38(2):313-320. doi: 10.1002/mds.29286. Epub 2022 Nov 29.
PMID: 36444905 Clinical Trial.