Home Page
References OMIM Gene GeneReviews HGMD HGNC
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