Olivopontocerebellar atrophy
| Olivopontocerebellar atrophy | |
|---|---|
| Classification and external resources | |
 Sagittal section through right cerebellar hemisphere. The right olive has also been cut sagitally. |
|
| ICD-10 | G23.8 |
| ICD-9 | 333.0 |
| DiseasesDB | 2012 9208 |
| MedlinePlus | 000758 |
| eMedicine | neuro/282 |
| MeSH | D009849 |
Olivopontocerebellar atrophy (OPCA) is a term that describes the degeneration of neurons in specific areas of the brain – the cerebellum, pons, and inferior olives.[1] OPCA is present in several neurodegenerative syndromes, including inherited and non-inherited forms of ataxia (such as the hereditary spinocerebellar ataxia known as Machado–Joseph disease) and multiple system atrophy (MSA), with which it is primarily associated.[1]
OPCA may also be found in the brains of individuals with prion disorders and inherited metabolic diseases. The characteristic areas of brain damage that indicate OPCA can be seen by imaging the brain using CT scans or MRI studies.[1]
The use of the term has changed considerably in recent years due to the progressing knowledge of the genetic basis of the disease.
The term was originally coined by Joseph Jules Dejerine and André Thomas.[2][3]
Contents |
[edit] Hereditary Disorders
The term "olivopontocerebellar atrophy" is currently used for two hereditary disorders whose genetic basis remains unknown:
| Number | OMIM | Alt. name | Inheritance |
|---|---|---|---|
| OPCA type 2 | 258300 | Fickler[4]-Winkler[5] type OPCA | autosomal recessive |
| OPCA type 5 | 164700 | OPCA with dementia and extrapyramidal signs | autosomal dominant |
[edit] Obsolete uses of the term
In the past, the term "olivopontocerebellar atrophy" extended to both the sporadic (non-hereditary) cases of the disease, which have been currently reclassified as a form of multiple system atrophy,[6] as well as to four hereditary types, which have been currently reclassified as four different forms of spinocerebellar ataxia:
| Hereditary OPCA type | 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 3 | "OPCA with retinal degeneration" | SCA7 | ATXN7 | 164500 |
| OPCA type 4 | "Schut-Haymaker type OPCA" | SCA1 | ATXN1 | 164400 |
[edit] References
- ^ a b c "NINDS Olivopontocerebellar Atrophy Information Page". http://www.ninds.nih.gov/disorders/opca/opca.htm. Retrieved 7 Feb 2012.
- ^ synd/1903 at Who Named It? - "Dejerine-Thomas atrophy"
- ^ J. J. Dejerine, A. Thomas. L’atrophie olivo-ponto-cérébelleuse. Nouvelle iconographie de la Salpêtrière, Paris, 1900, 13: 330-370. 1912, 25: 223-250.
- ^ Fickler, A. Klinische und pathologisch-anatomische Beitraege zu den Erkrankungen des Kleinhirns. Dtsch. Z. Nervenheilk. 41: 306-375, 1911.
- ^ Winkler, C. A case of olivo-pontine cerebellar atrophy and our conceptions of neo- and palaio-cerebellum. Schweiz. Arch. Neurol. Psychiat. 13: 684-702, 1923.
- ^ MeSH Result
[edit] External links
- -113967058 at GPnotebook - "olivopontocerebellar atrophy"
- -429195218 at GPnotebook - "lethal olivopontocerebellar atrophy"
- opca at NINDS
- OPCA Awareness
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