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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.
 
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

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
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

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
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
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
Dürr A, Brice A, Lepage-Lezin A, Cancel G, Smadja D, Vernant JC, Agid Y
Clin Neurosci 1995;3(1):12-6. PMID: 7614088
Stevanin G, Le Guern E, Ravisé N, Chneiweiss H, Dürr A, Cancel G, Vignal A, Boch AL, Ruberg M, Penet C
Am J Hum Genet 1994 Jan;54(1):11-20. PMID: 8279460Free PMC Article

Diagnosis

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
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
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
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
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

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

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
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
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
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
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

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
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
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
Perretti A, Santoro L, Lanzillo B, Filla A, De Michele G, Barbieri F, Martino G, Ragno M, Cocozza S, Caruso G
J Neurol Sci 1996 Oct;142(1-2):45-53. doi: 10.1016/0022-510x(96)00140-2. PMID: 8902719
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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