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Autosomal dominant cerebellar ataxia type III

MedGen UID:
1842779
Concept ID:
C5680260
Disease or Syndrome
Synonyms: ADCA3; ADCAIII; Autosomal dominant cerebellar ataxia type 3; autosomal dominant cerebellar ataxia type 3; autosomal dominant cerebellar ataxia type III; Pure cerebellar syndrome-mild pyramidal signs syndrome
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0019793
Orphanet: ORPHA94148

Definition

A group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31. [from ORDO]

Professional guidelines

PubMed

Zaltzman R, Sharony R, Klein C, Gordon CR
J Neurol 2016 Nov;263(11):2207-2214. Epub 2016 Aug 8 doi: 10.1007/s00415-016-8251-8. PMID: 27502086
Geschwind DH, Perlman S, Figueroa KP, Karrim J, Baloh RW, Pulst SM
Neurology 1997 Nov;49(5):1247-51. doi: 10.1212/wnl.49.5.1247. PMID: 9371902

Recent clinical studies

Etiology

Gerwig M, Esser AC, Guberina H, Frings M, Kolb FP, Forsting M, Aurich V, Beck A, Timmann D
Exp Brain Res 2008 May;187(1):85-96. Epub 2008 Feb 6 doi: 10.1007/s00221-008-1283-2. PMID: 18253726
Hirano R, Takashima H, Okubo R, Tajima K, Okamoto Y, Ishida S, Tsuruta K, Arisato T, Arata H, Nakagawa M, Osame M, Arimura K
Neurogenetics 2004 Dec;5(4):215-21. Epub 2004 Sep 29 doi: 10.1007/s10048-004-0194-z. PMID: 15455264

Diagnosis

Fujioka S, Sundal C, Wszolek ZK
Orphanet J Rare Dis 2013 Jan 18;8:14. doi: 10.1186/1750-1172-8-14. PMID: 23331413Free PMC Article
Gerwig M, Esser AC, Guberina H, Frings M, Kolb FP, Forsting M, Aurich V, Beck A, Timmann D
Exp Brain Res 2008 May;187(1):85-96. Epub 2008 Feb 6 doi: 10.1007/s00221-008-1283-2. PMID: 18253726

Prognosis

Gerwig M, Esser AC, Guberina H, Frings M, Kolb FP, Forsting M, Aurich V, Beck A, Timmann D
Exp Brain Res 2008 May;187(1):85-96. Epub 2008 Feb 6 doi: 10.1007/s00221-008-1283-2. PMID: 18253726

Clinical prediction guides

Gerwig M, Esser AC, Guberina H, Frings M, Kolb FP, Forsting M, Aurich V, Beck A, Timmann D
Exp Brain Res 2008 May;187(1):85-96. Epub 2008 Feb 6 doi: 10.1007/s00221-008-1283-2. PMID: 18253726
Richter S, Dimitrova A, Maschke M, Gizewski E, Beck A, Aurich V, Timmann D
Eur Neurol 2005;54(1):23-7. Epub 2005 Jul 26 doi: 10.1159/000087241. PMID: 16088175
Hirano R, Takashima H, Okubo R, Tajima K, Okamoto Y, Ishida S, Tsuruta K, Arisato T, Arata H, Nakagawa M, Osame M, Arimura K
Neurogenetics 2004 Dec;5(4):215-21. Epub 2004 Sep 29 doi: 10.1007/s10048-004-0194-z. PMID: 15455264
Takashima M, Ishikawa K, Nagaoka U, Shoji S, Mizusawa H
J Hum Genet 2001;46(4):167-71. doi: 10.1007/s100380170083. PMID: 11322654

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