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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.
Autosomal dominant inheritance (Orphanet)
 
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

Spinocerebellar ataxia type 3 in Israel: phenotype and genotype of a Jew Yemenite subpopulation.
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
Spinocerebellar ataxia type 6. Frequency of the mutation and genotype-phenotype correlations.
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

Trace eyeblink conditioning in patients with cerebellar degeneration: comparison of short and long trace intervals.
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
Fine mapping of 16q-linked autosomal dominant cerebellar ataxia type III in Japanese families.
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

Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics.
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
Trace eyeblink conditioning in patients with cerebellar degeneration: comparison of short and long trace intervals.
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

Trace eyeblink conditioning in patients with cerebellar degeneration: comparison of short and long trace intervals.
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

Trace eyeblink conditioning in patients with cerebellar degeneration: comparison of short and long trace intervals.
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
Degree of cerebellar ataxia correlates with three-dimensional mri-based cerebellar volume in pure cerebellar degeneration.
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
Fine mapping of 16q-linked autosomal dominant cerebellar ataxia type III in Japanese families.
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
A linkage disequilibrium at the candidate gene locus for 16q-linked autosomal dominant cerebellar ataxia type III in Japan.
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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