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GENATLAS PHENOTYPE

last update : 14-10-2016

Symbol	SCA9
Location	9q34.3
HGNC id	13440
Name	spinocerebellar ataxia 9
Other name(s)	spinocerebellar ataxia, autosomal recessive 2 cerebellar hypoplasia, nonprogressive Norman type cerebellar granular cell hypoplasia and mental retardation, congenital
Corresponding gene	PMPCA
Other symbol(s)	SCAR2, CLA1, CPD3
Main clinical features	cerebellar atrophy and peripheral neuropathy, elevated creatine kinase, gammaglobulin and alpha fetoprotein (Japanese family), cerebellar ataxia and mental deficiency, small head, cataracts, increased knee jerks, and intention tremorwith early death postmortem examination showed marked cerebellar atrophy with complete absence of granule cells in the lateral lobes of the cerebellum and the superior part of the vermis with heterotopic Purkinje cells and gliosis
Genetic determination	autosomal recessive
Related entries	including Lebanese forum with hypotonia, developmental delay, dysarthria
Function/system disorder	neurology
Type	disease

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