Olivopontocerebellar atrophy 1283995 214660521 2008-05-24T17:27:59Z Arcadian 104523 refs {{DiseaseDisorder infobox | Name = Olivopontocerebellar atrophy | ICD10 = {{ICD10|G|23|8|g|20}}<ref>http://www.nzhis.govt.nz/publications/newsletters/coders36.pdf</ref> | ICD9 = {{ICD9|333.0}} | ICDO = | Image = Gray707.png | Caption = Sagittal section through right cerebellar hemisphere. The right olive has also been cut sagitally. | OMIM = | MedlinePlus = 000758 | eMedicineSubj = neuro | eMedicineTopic = 282 | DiseasesDB = 2012 | DiseasesDB_mult = {{DiseasesDB2|9208}} | MeshID = 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]].<ref>{{WhoNamedIt|synd|1903}} - "Dejerine-Thomas atrophy"</ref><ref>J. J. Dejerine, A. Thomas. L’atrophie olivo-ponto-cérébelleuse. Nouvelle iconographie de la Salpêtrière, Paris, 1900, 13: 330-370. 1912, 25: 223-250.</ref> ==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]] {{OMIM2|258300}}), also known as "Fickler-Winkler type OPCA", characterised by [[autosomal recessive]] inheritance * '''OPCA type 5''' ([[OMIM]] {{OMIM2|164700}}), 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]]'''<ref>[http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=mesh&cmd=search&term=multiple+system+atrophy MeSH Result<!-- Bot generated title -->]</ref>, as well as to four hereditary types, which have been currently reclassified as four different forms of '''[[spinocerebellar ataxia]]''': {| class="wikitable" | '''Hereditary OPCA type''' || '''OPCA name''' || '''[[spinocerebellar ataxia|SCA]] #''' || '''Gene''' || '''[[OMIM]]''' |- | OPCA type 1 || "Menzel type OPCA" || SCA1 || [[ATXN1]] || {{OMIM2|164400}} |- | OPCA type 2, [[autosomal dominant]] || "Holguin type OPCA" || SCA2|| [[ATXN2]] || {{OMIM2|183090}} |- | OPCA type 3 || "OPCA with retinal degeneration" || SCA7 || [[ATXN7]] || {{OMIM2|164500}} |- | OPCA type 4 || "Schut-Haymaker type OPCA"|| SCA1 || [[ATXN1]] || {{OMIM2|164400}} |} ==References== <references/> ==External links== * {{GPnotebook|-113967058}} - "olivopontocerebellar atrophy" * {{GPnotebook|-429195218}} - "lethal olivopontocerebellar atrophy" * {{NINDS|opca}} * [http://www.alyshia.com/opca/about.html OPCA Awareness] {{PNS diseases of the nervous system }} [[Category:Neurological disorders]] [[ja:オリーブ橋小脳萎縮症]] [[pl:Zanik mostowo-oliwkowo-móżdżkowy]]