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Olivopontocerebellar atrophy

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Olivopontocerebellar atrophy
ICD-10 G238[1]
ICD-9 333.0
OMIM [2]
DiseasesDB 2012 9208
MedlinePlus 000758
eMedicine neuro/282
MeSH {{{MeshNumber}}}


Olivopontocerebellar atrophy (OPCA) is a term used to define neuronal degeneration in the cerebellum, pontine nuclei, and inferior olive. The use of the term has changed considerably in recent years thanks to the progressing knowledge of the genetic bases of the disease.

Sporadic OPCAEdit

Sporadic (non-hereditary) OPCA is considered a form of multiple system atrophy. [2]

Hereditary OPCAEdit

Four types of hereditary OPCA have disappeared from medical nomenclature, as they have been found to be the same as an already classified form of spinocerebellar atrophy. Type 2, autosomal recessive and Type 5 are still classified as olivopontocerebellar atrophy, though when their genetic associations are identified they may be renamed or combined with other conditions.

OPCA number OPCA name SCA # Gene OMIM
OPCA type 1 "Menzel type OPCA" SCA1 ATXN1 164400
OPCA type 2, autosomal dominant "Holguin type OPCA" SCA2 ATXN2 183090
OPCA type 2, autosomal recessive "Fickler-Winkler type OPCA" none known  ? 258300
OPCA type 3 "OPCA with retinal degeneration" SCA7 ATXN7 164500
OPCA type 4 "Schut-Haymaker type OPCA" SCA1 ATXN1 164400
OPCA type 5 "OPCA with dementia and extrapyramidal signs" none known  ? 164700

ReferencesEdit

  1. http://www.nzhis.govt.nz/publications/newsletters/coders36.pdf
  2. [1]

External linksEdit


ja:オリーブ橋小脳萎縮症
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