cerebellar ataxia—non-progressive—with mental retardation

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cerebellar ataxia—non-progressive—with mental retardation2016-11-25T07:36:24+00:00

cerebellar ataxia—non-progressive—with mental retardation

NEUROLOGY

Definition A neurodevelopmental disorder (OMIM:614756) characterised by mildly delayed psychomotor development, early onset cerebellar ataxia, and intellectual disability later in childhood and adult life, variably accompanied by neonatal hypotonia, dysarthria, dysmetria and facial dysmorphia.

Imaging—brain Variable cerebellar atrophy.

Molecular pathology Defects of CAMTA1, which encodes calmodulin binding transcription activator, cause cerebellar ataxia—non-progressive—with mental retardation. 

References http://www.uniprot.org/uniprot/Q9Y6Y1

http://www.omim.org/entry/614756 

 

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