spinocerebellar ataxia—autosomal recessive 5

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spinocerebellar ataxia—autosomal recessive 52016-11-28T05:42:35+00:00

spinocerebellar ataxia—autosomal recessive 5 

NEUROLOGY

A form of spinocerebellar ataxia (OMIM:606937), which is characterised by severe developmental delay, psychomotor retardation, proportionate short stature, cerebellar spastic ataxia, microcephaly, optic atrophy, speech defects, abnormal osmiophilic pattern of skin vessels, and cerebellar atrophy.  

According to the OMIM catalog, accessioned on 20.01.2016, spinocerebellar ataxia—autosomal recessive 5 (OMIM:606937) which is caused by a defect of ZNF592 located on 15q25.2 has been incorporated into Galloway-Mowat syndrome (OMIM:251300), which is caused by a defect in WDR73 (also) located on chromosome 15q25.2

Molecular pathology Defects in ZNF592, which encodes a  transcription regulator involved in cerebellar development, cause spinocerebellar ataxia—autosomal recessive 5.

Synonyms Cerebellar ataxia with mental retardation—optic atrophy—and skin abnormalities 

References http://www.uniprot.org/uniprot/Q92610

http://www.omim.org/entry/606937

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