Infantile-onset spinocerebellar ataxia (IOSCA)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Infantile-onset spinocerebellar ataxia (IOSCA). This is caused by mutations in the C10orf2 gene on chromosome 10q. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the C10orf2 gene on chromosome 10q
- The gene encodes twinkle: this is a mitochondrial helicase
- It is mainly found in Finnish families
Onset features
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Clinical features
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Differential diagnosis
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Nerve conduction studies (NCS)
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Magnetic resonance imaging (MRI) brain: features
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References
Related checklists
- Ataxia telangiectasia (AT)
- Ataxia-telangiectasia like disorder (ATLD)
- COQ8A ataxia
- Cayman ataxia
- Cockayne syndrome
- Autosomal recessive spinocerebellar ataxia with raised alpha-fetoprotein
- Abetalipoproteinaemia
- Gordon Holmes syndrome (GHS)
- Autosomal recessive spinocerebellar ataxias (SCAR)
- Autosomal recessive cerebellar ataxia with STUB1 mutations
- Spinocerebellar ataxia with axonal neuropathy (SCAN1)
