Prospective study of individuals at risk for spinocerebellar ataxia type 1, type 2, type 3 and type 6 (SCA1, SCA2, SCA3, SCA6)

The aim of RISCA is to answer the following questions:

  1. What is the incidence of disease manifestation in mutation carriers?
  2. Which clinical signs precede the onset of manifest ataxia in SCA1, SCA2, SCA3 and SCA6?
  3. What are the prevalence and incidence of preceding signs?
  4. Are the prevalence and incidence of preceding signs affected by genotype, gender, age, estimated time until disease manifestation and repeat length?
  5. Does the presence of certain preceding signs predict the manifestation of ataxia?
  6. Are there MRI alterations that precede the onset of ataxia?

Study participants are followed at 24 months intervals over six years and than at irregular intervals. At each visit, study participants are asked in a structured interview for a number of predefined clinical signs that potentially precede the onset of ataxia.

Last update – 26/05/2017 

Types Rare neurodegenerative condition
Participant Types At-risk diagnosis
Countries Germany
Genders Male and Female
Sample sizes 0 to 4,999
Ages 0 to 9|10 to 19|20 to 39|40 to 59
Brain related measures Cognitive function|Mental health
Funtional rating Individual physiological|Individual psychological
Anthropometric Height|Weight
Physical
Biological samples Blood|Urine
Genotyping
Brain imaging
Brain banking
Lifestyle Alcohol|Physical activity|Smoking
Socio-economic
Health service utilisation
Institute names
Current Sample Sizes 0 to 4,999

age at recruitment >18
last updated
recruitment period
estimated current sample size number value 300
cohort acronym RISCA
start date
pi Prof. Dr Thomas Klockgether
website http://www.ataxia-study-group.net/html/studies/risca?clps1708_1624951375=1
contact details Dept. of Neurology
University Hospital Bonn
Sigmund-Freud-Str. 25
D-53105 Bonn, Germany
abstract  RISCA focuses on the clinical signs that precede the onset of manifest ataxia in SCA1, SCA2, SCA3 and SCA6. 480 participants over 18 have been recruited.
funders  E-Rare program
contact email [email protected]
contact phone number 
estimated current sample size 0 to 4,999
sample sizes 480

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