Cayman ataxia
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Cayman ataxia. This is caused by mutations in the ATCAY gene on chromosome 19p. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the ATCAY gene on chromosome 19p
Clinical features
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Magnetic resonance imaging (MRI): features
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References
- Nystuen A, Benke PJ, Merren J, Stone EM, Sheffield VC. A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands. Hum Mol Genet 1996; 5:525-531.
- Embiruçu EK, Martyn ML, Schlesinger D, Kok F. Autosomal recessive ataxias: 20 types, and counting. Arq Neuropsiquiatr 2009; 67:1143-1156.
- Fogel BL, Perlman S. Clinical features and molecular genetics of autosomal recessive cerebellar ataxias. Lancet Neurol 2007; 6:245–257.
Related checklists
- Ataxia telangiectasia (AT)
- Ataxia-telangiectasia like disorder (ATLD)
- COQ8A 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)
- Infantile-onset spinocerebellar ataxia (IOSCA)
