cerebellar ataxia Cayman type

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cerebellar ataxia Cayman type2016-11-25T07:34:19+00:00

cerebellar ataxia Cayman type

cerebellar ataxia Cayman type image from New Medical Terms

Cayman Islands

NEUROLOGY

Definition An autosomal recessive condition (OMIM:601238) seen in a population isolate on 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 Defects of ATCAY, which encodes a neuron-restricted protein that bind small lipophilic molecules, cause cerebellar ataxia—Cayman type. 

Synonym Autosomal recessive Cayman cerebellar ataxia 

References http://www.uniprot.org/uniprot/Q86WG3

http://www.omim.org/entry/601238

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