spinocerebellar ataxia | inherited disorder in which an inability to coordinate movement occurs
Conditions
Interventions
None listed
Sponsors
Universitair Medisch Centrum Groningen
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
Inclusion criteria: patients: genetically confirmed SCA3 or SCA6 in an early stage (that is, not wheelchair-bound) and aged 18-65 healthy controls: aged 18-65
Exclusion criteria
Exclusion criteria: history or presence of neurological disorders (in case of patients: other than SCA) for which referral to a neurologist/neurosurgeon was necessary and for healthy controls also a family history of SCA, if genetic information on the absence of the particular SCA mutation is not available; presence of ferromagnetic material in the body, (suspicion of) pregnancy (which implies that in case of doubt subjects will be denied to enroll in the study), claustrophobia, age below 18 or above 65 and having received radiation in the context of medical research in the past 5 years constitute exclusion criteria for all subjects.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| - the distribution of regional decreased directionality of diffusion (based on diffusion weighted images); - decreased functional coherence between GM areas (based on Blood Oxygen Level Dependent (BOLD) RS-fMRI images); - GM atrophy (based on T1 images); - decreased GM FDG uptake (based on FDG-PET images); - clinical assessment scores on the Scale for the Assessment and Rating of Ataxia (SARA), language tests (the Aachen Aphasia Test, the Boston naming test, the Semantic Verbal Association Test, and the Semantic Visual Association Test) and executive functioning tests (Letter and Category fluency, the Rule Shift Test from the Behavioural Assessment of the Dysexecutive Syndrome, charts 1 and 2 from the Stroop Test and the Hayling Sentence Completion Test). | — |
Secondary
| Measure | Time frame |
|---|---|
| (not applicable) | — |
Countries
Netherlands
Outcome results
None listed