Olivopontocerebellar atrophy

Encyclopedia : O : OL : OLI : Olivopontocerebellar atrophy

Olivopontocerebellar atrophy (OPCA) are a group of diseases characterized by neuronal degeneration in the cerebellum, pontine nuclei, and inferior olive. They are also referred to as spinocerebellar ataxias (SCA) or atrophies. Some also involve brain stem motor nuclei and/or cerebral cortex. All produce gait ataxia, and some also result in tremors, proprioceptive abnormalities, dysarthria, brain stem motor impairment, or dementia. Most are autosomal dominant in inheritance pattern. The primary cause of these hereditary ataxias also appears to be an unstable expansion of the polyglutamine trinucleotide repeat CAG, similar to Huntington's disease. Non-inherited, or sporadic OPCA, is now considered a form of multiple system atrophy (MSA).[link]

Contents

1 Subcategories

1.1 OPCA1
1.2 OPCA2
1.3 OPCA3
1.4 OPCA4
1.5 OPCA5

2 See also
3 External links

Subcategories

Olivopontocerebellar atrophy is group of disorders which overlap certain other groups, such as spinocerebellar ataxia (SCA). Some but not all types of SCA are in the Olivopontocerebellar atrophy group. Some but not all Olivopontocerebellar atrophy conditions, are types of SCA. This situation causes some controversy and confusion about what terms and system of categorization should be used. The subcategories of Olivopontocerebellar atrophy are:

OPCA1

OPCA, Menzel type (OMIM [164400])
Spinocerebellar ataxia type 1 (SCA1)

OPCA2

OPCA, Holguin type (OMIM [183090])
Spinocerebellar ataxia type 2 (SCA2)
OPCA, Fickler-Winkler type (OMIM [258300])

OPCA3

Spinocerebellar ataxia type 7 (SCA7) (OMIM [164500])
OPCA with retinal degeneration

OPCA4

OPCA, Schut-Haymaker type (OMIM [164600])

OPCA5

OPCA with dementia and extrapyramidal signs (OMIM [164700]))

External links

GPnotebook [-113967058] - "olivopontocerebellar atrophy"
GPnotebook [-429195218] - "lethal olivopontocerebellar atrophy"
Who Named It [synd/1903] - "Dejerine-Thomas atrophy"
eMedicine [neuro/282] - "Olivopontocerebellar Atrophy"
DDB [2012]
DDB [9208]
NINDS [opca]
[OPCA Awareness]

From Wikipedia, the Free Encyclopedia. Original article here. Support Wikipedia by contributing or donating.
All text is available under the terms of the GNU Free Documentation License See Wikipedia Copyrights for details.