Determination of presymptomatic disease features in Spinocerebellar Ataxia type 6 (SCA6) patients

Determination of presymptomatic disease features in Spinocerebellar Ataxia type 6 (SCA6) patients - PRESCA

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON35909

Enrollment

Registered

2011-07-15

Start date

2011-09-29

Completion date

Unknown

Last updated

2024-04-29

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

ADCA SCA6

Interventions

None listed

Eligibility

Age

18 Years to 99 Years

Inclusion criteria

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

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.

Design outcomes

Primary

Measure	Time frame
In order to determine pre-symptomatic features in SCA6 we will study use of a broad range of behavioral and motor tests: delay eyeblink conditioning, prepulse inhibition, prism adaptation test and motor performance (nose point). We will follow alterations of the brain with magnetic resonance imaging technique (MRI) without use of contrast agents. Specific attention will be paid on the atrophy in the brainstem, pons and cerebellum. Furthermore, neurological and clinical genetically investigations will be performed (SARA, INAS, SCAFI). Daily functioning and other relevant factors (like medication use) will be reviewed through questionnaires. Correlations between MRI-scores and data from behavioral-en motortests will be investigated. Scores on classical delay eyeblink conditioning, PPI, PRISMA adaptation test and finger nose point of patients will be compared to controls	—

Measure

Time frame

In order to determine pre-symptomatic features in SCA6 we will study use of a broad range of behavioral and motor tests: delay eyeblink conditioning, prepulse inhibition, prism adaptation test and motor performance (nose point). We will follow alterations of the brain with magnetic resonance imaging technique (MRI) without use of contrast agents. Specific attention will be paid on the atrophy in the brainstem, pons and cerebellum. Furthermore, neurological and clinical genetically investigations will be performed (SARA, INAS, SCAFI). Daily functioning and other relevant factors (like medication use) will be reviewed through questionnaires. Correlations between MRI-scores and data from behavioral-en motortests will be investigated. Scores on classical delay eyeblink conditioning, PPI, PRISMA adaptation test and finger nose point of patients will be compared to controls

—

Secondary

Measure	Time frame
CAG repeat in relation to the found scores on classical delay eyeblink conditioning, PPI, PRISMA adaptation test and finger nose point.	—

Countries

Netherlands

Outcome results