KEGG   DISEASE: Autosomal dominant sensory ataxia
Entry
H02101                      Disease                                
Name
Autosomal dominant sensory ataxia
Description
Autosomal dominant sensory ataxia (ADSA) is a rare genetic condition that results in a progressive ataxia. ADSA is suggested to be caused by degeneration of the posterior columns of the spinal cord. The mutation in the RNF170 gene causes ADSA.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Movement disorders
   8A03  Ataxic disorders
    H02101  Autosomal dominant sensory ataxia
Gene
(SNAX1) RNF170 [HSA:81790] [KO:K15707]
Other DBs
ICD-11: 8A03.1Y
ICD-10: G11.8
MeSH: C563818
OMIM: 608984
Reference
  Authors
Moeller JJ, Macaulay RJ, Valdmanis PN, Weston LE, Rouleau GA, Dupre N
  Title
Autosomal dominant sensory ataxia: a neuroaxonal dystrophy.
  Journal
Acta Neuropathol 116:331-6 (2008)
DOI:10.1007/s00401-008-0362-6
Reference
  Authors
Valdmanis PN, Dupre N, Lachance M, Stochmanski SJ, Belzil VV, Dion PA, Thiffault I, Brais B, Weston L, Saint-Amant L, Samuels ME, Rouleau GA
  Title
A mutation in the RNF170 gene causes autosomal dominant sensory ataxia.
  Journal
Brain 134:602-7 (2011)
DOI:10.1093/brain/awq329
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