Olivopontocerebellar atrophy

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Olivopontocerebellar atrophy
Classification and external resources
Sagittal section through right cerebellar hemisphere. The right olive has also been cut sagitally.
ICD-10	G23.8[1]
ICD-9	333.0
DiseasesDB	2012 9208
MedlinePlus	000758
eMedicine	neuro/282
MeSH	D009849

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

The term was originally coined by Joseph Jules Dejerine and André Thomas.^[2][3]

Contents 1 Current uses of the term 2 Obsolete uses of the term 3 References 4 External links

[edit] Current uses of the term

The term "olivopontocerebellar atrophy" currently applies only to two hereditary disorders whose genetic basis remains unknown:

• autosomal recessive OPCA type 2 (OMIM 258300), also known as "Fickler-Winkler type OPCA", characterised by autosomal recessive inheritance
• OPCA type 5 (OMIM 164700), also known as "OPCA with dementia and extrapyramidal signs", characterised by autosomal dominant inheritance

[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^[4], 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

1. ^ http://www.nzhis.govt.nz/publications/newsletters/coders36.pdf
2. ^ synd/1903 at Who Named It? - "Dejerine-Thomas atrophy"
3. ^ J. J. Dejerine, A. Thomas. L’atrophie olivo-ponto-cérébelleuse. Nouvelle iconographie de la Salpêtrière, Paris, 1900, 13: 330-370. 1912, 25: 223-250.
4. ^ 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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