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Autosomal dominant cerebellar ataxia type I

MedGen UID:
1842696
•Concept ID:
C5680259
•
Disease or Syndrome
Synonyms: ADCA1; ADCAI; autosomal dominant cerebellar ataxia type 1; Autosomal dominant cerebellar ataxia type 1; autosomal dominant cerebellar ataxia type I; Cerebellar plus syndrome; cerebellar plus 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:0019792
Orphanet: ORPHA94145

Definition

A group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement. [from ORDO]

Professional guidelines

PubMed

Clinical and molecular studies of 73 Italian families with autosomal dominant cerebellar ataxia type I: SCA1 and SCA2 are the most common genotypes.
Pareyson D, Gellera C, Castellotti B, Antonelli A, Riggio MC, Mazzucchelli F, Girotti F, Pietrini V, Mariotti C, Di Donato S
J Neurol 1999 May;246(5):389-93. doi: 10.1007/s004150050369. PMID: 10399872
Eye movement abnormalities correlate with genotype in autosomal dominant cerebellar ataxia type I.
Rivaud-Pechoux S, Dürr A, Gaymard B, Cancel G, Ploner CJ, Agid Y, Brice A, Pierrot-Deseilligny C
Ann Neurol 1998 Mar;43(3):297-302. doi: 10.1002/ana.410430306. PMID: 9506545

Recent clinical studies

Etiology

Infantile onset spinocerebellar ataxia 2 (SCA2): a clinical report with review of previous cases.
Singh A, Faruq M, Mukerji M, Dwivedi MK, Pruthi S, Kapoor S
J Child Neurol 2014 Jan;29(1):139-44. Epub 2013 Dec 2 doi: 10.1177/0883073813509015. PMID: 24300164
Autosomal dominant cerebellar ataxia type I: oculomotor abnormalities in families with SCA1, SCA2, and SCA3.
Bürk K, Fetter M, Abele M, Laccone F, Brice A, Dichgans J, Klockgether T
J Neurol 1999 Sep;246(9):789-97. doi: 10.1007/s004150050456. PMID: 10525976
Autosomal dominant cerebellar ataxia type I. MRI-based volumetry of posterior fossa structures and basal ganglia in spinocerebellar ataxia types 1, 2 and 3.
Klockgether T, Skalej M, Wedekind D, Luft AR, Welte D, Schulz JB, Abele M, Bürk K, Laccone F, Brice A, Dichgans J
Brain 1998 Sep;121 ( Pt 9):1687-93. doi: 10.1093/brain/121.9.1687. PMID: 9762957
Eye movement abnormalities correlate with genotype in autosomal dominant cerebellar ataxia type I.
Rivaud-Pechoux S, Dürr A, Gaymard B, Cancel G, Ploner CJ, Agid Y, Brice A, Pierrot-Deseilligny C
Ann Neurol 1998 Mar;43(3):297-302. doi: 10.1002/ana.410430306. PMID: 9506545
Autosomal dominant cerebellar ataxia type I linked to chromosome 12q (SCA2: spinocerebellar ataxia type 2).
Dürr A, Brice A, Lepage-Lezin A, Cancel G, Smadja D, Vernant JC, Agid Y
Clin Neurosci 1995;3(1):12-6. PMID: 7614088

Diagnosis

Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics.
Whaley NR, Fujioka S, Wszolek ZK
Orphanet J Rare Dis 2011 May 28;6:33. doi: 10.1186/1750-1172-6-33. PMID: 21619691Free PMC Article
Eye movement abnormalities correlate with genotype in autosomal dominant cerebellar ataxia type I.
Rivaud-Pechoux S, Dürr A, Gaymard B, Cancel G, Ploner CJ, Agid Y, Brice A, Pierrot-Deseilligny C
Ann Neurol 1998 Mar;43(3):297-302. doi: 10.1002/ana.410430306. PMID: 9506545
Autosomal dominant cerebellar ataxia type I. Clinical and molecular study in 36 Italian families including a comparison between SCA1 and SCA2 phenotypes.
Filla A, De Michele G, Campanella G, Perretti A, Santoro L, Serlenga L, Ragno M, Calabrese O, Castaldo I, De Joanna G, Cocozza S
J Neurol Sci 1996 Oct;142(1-2):140-7. doi: 10.1016/0022-510x(96)00177-3. PMID: 8902734
Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies). Clinical and neuropathological analysis of 53 patients from three unrelated SCA2 families.
Dürr A, Smadja D, Cancel G, Lezin A, Stevanin G, Mikol J, Bellance R, Buisson GG, Chneiweiss H, Dellanave J
Brain 1995 Dec;118 ( Pt 6):1573-81. doi: 10.1093/brain/118.6.1573. PMID: 8595486
Refinement by linkage analysis in two large families of the candidate region of the third locus (SCA3) for autosomal dominant cerebellar ataxia type I.
Verschuuren-Bemelmans CC, Brunt ER, Burton M, Mensink RG, van der Meulen MA, Smit NH, Stolte-Dijkstra I, Buys CH, Scheffer H
Hum Genet 1995 Dec;96(6):691-4. doi: 10.1007/BF00210301. PMID: 8522329

Therapy

Autosomal dominant cerebellar ataxia type I: oculomotor abnormalities in families with SCA1, SCA2, and SCA3.
Bürk K, Fetter M, Abele M, Laccone F, Brice A, Dichgans J, Klockgether T
J Neurol 1999 Sep;246(9):789-97. doi: 10.1007/s004150050456. PMID: 10525976

Prognosis

Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics.
Whaley NR, Fujioka S, Wszolek ZK
Orphanet J Rare Dis 2011 May 28;6:33. doi: 10.1186/1750-1172-6-33. PMID: 21619691Free PMC Article
Autosomal dominant cerebellar ataxia type I. Clinical and molecular study in 36 Italian families including a comparison between SCA1 and SCA2 phenotypes.
Filla A, De Michele G, Campanella G, Perretti A, Santoro L, Serlenga L, Ragno M, Calabrese O, Castaldo I, De Joanna G, Cocozza S
J Neurol Sci 1996 Oct;142(1-2):140-7. doi: 10.1016/0022-510x(96)00177-3. PMID: 8902734
Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies). Clinical and neuropathological analysis of 53 patients from three unrelated SCA2 families.
Dürr A, Smadja D, Cancel G, Lezin A, Stevanin G, Mikol J, Bellance R, Buisson GG, Chneiweiss H, Dellanave J
Brain 1995 Dec;118 ( Pt 6):1573-81. doi: 10.1093/brain/118.6.1573. PMID: 8595486
Refinement by linkage analysis in two large families of the candidate region of the third locus (SCA3) for autosomal dominant cerebellar ataxia type I.
Verschuuren-Bemelmans CC, Brunt ER, Burton M, Mensink RG, van der Meulen MA, Smit NH, Stolte-Dijkstra I, Buys CH, Scheffer H
Hum Genet 1995 Dec;96(6):691-4. doi: 10.1007/BF00210301. PMID: 8522329
Autosomal dominant cerebellar ataxia type I linked to chromosome 12q (SCA2: spinocerebellar ataxia type 2).
Dürr A, Brice A, Lepage-Lezin A, Cancel G, Smadja D, Vernant JC, Agid Y
Clin Neurosci 1995;3(1):12-6. PMID: 7614088

Clinical prediction guides

Autosomal dominant cerebellar ataxia type I: oculomotor abnormalities in families with SCA1, SCA2, and SCA3.
Bürk K, Fetter M, Abele M, Laccone F, Brice A, Dichgans J, Klockgether T
J Neurol 1999 Sep;246(9):789-97. doi: 10.1007/s004150050456. PMID: 10525976
Clinical and molecular studies of 73 Italian families with autosomal dominant cerebellar ataxia type I: SCA1 and SCA2 are the most common genotypes.
Pareyson D, Gellera C, Castellotti B, Antonelli A, Riggio MC, Mazzucchelli F, Girotti F, Pietrini V, Mariotti C, Di Donato S
J Neurol 1999 May;246(5):389-93. doi: 10.1007/s004150050369. PMID: 10399872
Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families.
Cancel G, Dürr A, Didierjean O, Imbert G, Bürk K, Lezin A, Belal S, Benomar A, Abada-Bendib M, Vial C, Guimarães J, Chneiweiss H, Stevanin G, Yvert G, Abbas N, Saudou F, Lebre AS, Yahyaoui M, Hentati F, Vernant JC, Klockgether T, Mandel JL, Agid Y, Brice A
Hum Mol Genet 1997 May;6(5):709-15. doi: 10.1093/hmg/6.5.709. PMID: 9158145
Autosomal dominant cerebellar ataxia type I clinical features and MRI in families with SCA1, SCA2 and SCA3.
Bürk K, Abele M, Fetter M, Dichgans J, Skalej M, Laccone F, Didierjean O, Brice A, Klockgether T
Brain 1996 Oct;119 ( Pt 5):1497-505. doi: 10.1093/brain/119.5.1497. PMID: 8931575
Autosomal dominant cerebellar ataxia type I linked to chromosome 12q (SCA2: spinocerebellar ataxia type 2).
Dürr A, Brice A, Lepage-Lezin A, Cancel G, Smadja D, Vernant JC, Agid Y
Clin Neurosci 1995;3(1):12-6. PMID: 7614088

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