cerebellar ataxia, Cayman type

An autosomal recessive condition (OMIM:601238) seen in a population isolated on the Grand Cayman Island, which is characterised by early-onset hypotonia, marked psychomotor retardation and prominent nonprogressive cerebellar dysfunction (nystagmus), intention tremor, dysarthria, and wide-based ataxic gait.

Molecular pathology
Caused by defects of ATCAY, which encodes a neuron-restricted protein that binds small lipophilic molecules.

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