Determination of presymptomatic disease features in Spinocerebellar Ataxia type 6 (SCA6) patients
Recruiting
- Conditions
- ADCASCA610028037
Recruitment & Eligibility
- Status
- Recruiting
- Sex
- Not specified
- Target Recruitment
- 60
Inclusion Criteria
Patients: Subjects from 18 years and up with genetically diagnosed SCA6 without clinical symptoms of ataxia
Controls: Healthy subjects from 18 years and up.
Exclusion Criteria
Patients and controls:
Other neurodegenerative conditions than SCA6
Other conditions than SCA6 that influence gait
History of psychiatric or neurological disease
Deafness or hearing difficulties
Pregnant women and people with other contra-indications for MRI will be included but in the study, but will not undergo MRI. In the case of pregnancy MRI will be planned around it.
Study & Design
- Study Type
- Observational invasive
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method <p>In order to determine pre-symptomatic features in SCA6 we will study use of a<br /><br>broad range of behavioral and motor tests: delay eyeblink conditioning,<br /><br>prepulse inhibition, prism adaptation test and motor performance (nose point).<br /><br>We will follow alterations of the brain with magnetic resonance imaging<br /><br>technique (MRI) without use of contrast agents. Specific attention will be paid<br /><br>on the atrophy in the brainstem, pons and cerebellum. Furthermore, neurological<br /><br>and clinical genetically investigations will be performed (SARA, INAS, SCAFI).<br /><br>Daily functioning and other relevant factors (like medication use) will be<br /><br>reviewed through questionnaires. Correlations between MRI-scores and data from<br /><br>behavioral-en motortests will be investigated.<br /><br>Scores on classical delay eyeblink conditioning, PPI, PRISMA adaptation test<br /><br>and finger nose point of patients will be compared to controls</p><br>
- Secondary Outcome Measures
Name Time Method <p>CAG repeat in relation to the found scores on classical delay eyeblink<br /><br>conditioning, PPI, PRISMA adaptation test and finger nose point.</p><br>