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[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 basis of the disease.

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

Contents

Current uses of the term

The term "olivopontocerebellar atrophy" currently applies only to 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

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

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. ^ Fickler, A. Klinische und pathologisch-anatomische Beitraege zu den Erkrankungen des Kleinhirns. Dtsch. Z. Nervenheilk. 41: 306-375, 1911.
  5. ^ 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.
  6. ^ MeSH Result

External links

Inflammation
Both/either
Brain/
encephalopathy
Episodic/
paroxysmal
Other
Spinal cord/
myelopathy
Both/either

M: CNS

anat(n/s/m/p/4/e/b/d/c/a/f/l/g)/phys/devp

noco(m/d/e/h/v/s)/cong/tumr, sysi/epon, injr

proc, drug(N1A/2AB/C/3/4/7A/B/C/D)