Cayman ataxia
Evidence-based neurology checklist on cayman ataxia: Genetics This is caused by mutations in the ATCAY gene on chromosome 19p Clinical features Magnetic resonance imaging (MRI): features
Genetics
- This is caused by mutations in the ATCAY gene on chromosome 19p
Clinical features
Magnetic resonance imaging (MRI): features
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.
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- Autosomal recessive spinocerebellar ataxias (SCAR)
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- Spinocerebellar ataxia with axonal neuropathy (SCAN1)
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