Registries – Cerebellar Ataxia

ERN-RND centres either coordinate or contribute to the RND registries as listed below.

Name of registry/database	Contact person	Condition(s)	Objective	Data entered by	Inclusion and exclusion criteria	Number of sites if multicentric	Local/National/European	Funding/supporting organization
SPORTAX	Thomas Klockgether	Sporadic ataxia	Study natural history Develop biomarkers Explore genetic and immunological basis	HCP	Progressive ataxia Disease onset after the age of 40 years Informative and negative family history (no similar disorders in first- and second-degree relatives; parents older than 50 years, or, if not alive, age at death of more than 50 years, no consanguinity of parents) No established acquired cause of ataxia Clinical: No onset of ataxia in association with stroke, encephalitis, sepsis,hyperthermia or heat stroke; no chronic diarrhea; no unexplained visual loss; no alcohol abuse; no chronic intake of anticonvulsant drugs; no other toxic causes; nomalignancies; no rapid progression (development of severe ataxia in less than 12 weeks); no insulin-dependent diabetes mellitus Imaging: No evidence of multiple sclerosis, ischemia, hemorrhage or tumor of the posterior fossa; absence of signal abnormalities on T2/FLAIR-images exceptabnormalities compatible with MSA Laboratory: Negative molecular genetic testing for FRDA (only required if there is nocerebellar atrophy on MRI, SCA1, SCA2, SCA3, SCA6, FMR1 premutation (onlyrequired if prominent tremor, cognitive impairment or signal abnormality on T2/FLAIRimages in the middle cerebellar peduncle); antineuronal antibodies negative (onlyrequired, if disease duration less than 3 years); normal levels of vitamin B12;VDRL negative; normal thyreoid function		European	DZNE
EFACTS	Jörg B. Schulz (Aachen)	Friedreich's Ataxia	This is a multi-centre, multi-national, prospective, observational study of Friedreich's Ataxia (FRDA) with a control group to: obtain natural history data on individuals affected by FRDA relate clinical assessments and results from proteomic analyses expedite identification and recruitment of participants for clinical trials develop and validate sensitive and reliable outcome measures for detecting onset and change over the natural course of FRDA which may also be potential outcome measures for use in future clinical trials and clinical care plan for future research studies	HCP	Inclusion Criteria: Genetic diagnosis of FRDA For control research participants: genetically confirmed absence of FRDA Exclusion Criteria: no signed informed consent form no social security already included in another clinical trial deprived of their liberty local anaesthesic contraindications (for biopsy)		European	European Friedreich's Ataxia Consortium for Translational Studies
SCA Registry	Thomas Klockgether	Spinocerebellar ataxias (SCA)	Study natural history, Develop biomarkers, Identify genetic modifyers	HCP	SCA Mutation (any genotype) Risk Person for SCA	17	European	JPND
SPATAX database	Pr Alexandra DURR	Cerebellar ataxias and spastic paraplegias	Cohort follow-up	HCP	Cerebellar ataxias and/or spastic paraplegias suspected	>50	European	None
Hereditary ataxias	Josep Gamez	hereditary ataxias and related disorders	A epidemiological survey of hereditary ataxias in Catalonia	HCP	adult onset ataxias		Local	None
EOA-early onset Ataxia registry	Matthis Synofzik	early onset ataxia and autosomal-recessive ataxias	To assess phenotypic characteristics and progression of disease in patients with early onset ataxia and autosomal-recessive ataxias in a prospective natural history study; and to unravel the genetic molecular diagnosis in so far unsolvedearly-onset ataxia patients.	HCP	Inclusion: Patients with ataxia onset <40 years, a sporadic or autosomal-recessive family history, without transmission in 2 generations; and no evidence for a secondary ataxia; a recessive ataxia mutation may already have been identified	25	international	DZNE
Paraplegias	Dr. Josep Gamez Neurology Department, Hospital Universitary Vall d' Hebron. Barcelona. Spain.	Hereditary paraplegias	An epidemiological survey hereditary paraplegias in Catalonia	HCP	Adult paraplegias (>18 years old)		Local	None
HSP Registry	Rebecca Schüle	HSP, PLS and Spastic Ataxia	Multicenter, prospective observational natural history study	HCP	clinical or genetic diagnosis of HSP	11	European	BMBF, DZNE, HSP-Selbsthilfegruppe e.v.

Friedreich Ataxia Studies

EuroFA – European Friedreich Ataxia Registry (EFACTS)

Spinocerebellar Ataxia Studies

EuroSCA – European Spinocerebellar Ataxia Registry
RISCA – Prospective Study of Individuals at Risk for Spinocerebellar Ataxia

Other Ataxia Studies

SPORTAX – Sporadic Degenerative Ataxia Registry
EOA – Early Onset Ataxia Registry
Hereditary Ataxia (Spain)