Developmental recapitulation of spinocerebellar ataxia

Recruiting

• Conditions: Ataxia; SCA; 10029299; 10028037

• Registration Number: NL-OMON40742
• Lead Sponsor: Erasmus MC, Universitair Medisch Centrum Rotterdam

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 23 April 2024

Recruitment & Eligibility

• Status: Recruiting
• Sex: Not specified
• Target Recruitment: 11

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

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.

Study & Design

• Study Type: Observational invasive
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>1. The molecular and electrophysiological profile of probands and their family<br /><br>members<br /><br>2. Clinical characterization of the probands and their family members</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>Not applicable</p><br>