Ataxia SCA
Conditions
Interventions
None listed
Sponsors
Erasmus MC, Universitair Medisch Centrum Rotterdam
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
Inclusion criteria: 1. All subjects must give signed, informed consent. 2. Probands must have a cerebellar movement disorder or a disorder with spinocerebellar ataxia features such as uncoordinated movement (i.e. asthenia, asynergy, delayed reaction time and dyschronometria) in limbs and organs such as the eyes. 3. Subjects must be over 18 years of age at interview, male or female.
Exclusion criteria
Exclusion criteria: 1. Unable to give informed consent to all aspects of the study. 2. Unable to speak and be interviewed in Dutch or English (to ensure validity of the interviews). 3. Cerebellar movement disorder is deemed secondary to substance use by the consensus diagnostic procedure because uncoordinated movement symptoms are limited to periods of likely intoxication or withdrawal. 4. The cerebellar movement disorder is deemed secondary to causative factors, such as, head injury, or alcohol withdrawal. 5. Subjects with severe mental retardation.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| 1. The molecular and electrophysiological profile of probands and their family members 2. Clinical characterization of the probands and their family members | — |
Countries
Netherlands
Outcome results
None listed