Definitions

olivopontocerebellar

Olivopontocerebellar atrophy

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.

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

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, 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
OPCA type 2, autosomal dominant "Holguin type OPCA" SCA2 ATXN2
OPCA type 3 "OPCA with retinal degeneration" SCA7 ATXN7
OPCA type 4 "Schut-Haymaker type OPCA" SCA1 ATXN1

References

External links

  • - "olivopontocerebellar atrophy"
  • - "lethal olivopontocerebellar atrophy"
  • OPCA Awareness

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