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| 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 OPCA
Sporadic (non-hereditary) OPCA is considered a form of multiple system atrophy. [2]
Hereditary OPCA
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 |
References
External links
- GPnotebook -113967058 - "olivopontocerebellar atrophy"
- GPnotebook -429195218 - "lethal olivopontocerebellar atrophy"
- Who Named It synd/1903 - "Dejerine-Thomas atrophy"
- opca at NINDS
- ja:オリーブ橋小脳萎縮症
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