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Autosomal dominant cerebellar ataxia

MedGen UID:
1684639
•Concept ID:
C4087347
•
Disease or Syndrome
Synonym: Spinocerebellar Ataxia, Dominant
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:0020380
OMIM® Phenotypic series: PS164400
Orphanet: ORPHA99

Definition

A clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Clinical and Genetic Evaluation of Spinocerebellar Ataxia Type 10 in 16 Brazilian Families.
Domingues BMD, Nascimento FA, Meira AT, Moro A, Raskin S, Ashizawa T, Teive HAG
Cerebellum 2019 Oct;18(5):849-854. doi: 10.1007/s12311-019-01064-y. PMID: 31377949
Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14.
Chelban V, Wiethoff S, Fabian-Jessing BK, Haridy NA, Khan A, Efthymiou S, Becker EBE, O'Connor E, Hersheson J, Newland K, Hojland AT, Gregersen PA, Lindquist SG, Petersen MB, Nielsen JE, Nielsen M, Wood NW, Giunti P, Houlden H
Mov Disord 2018 Jul;33(7):1119-1129. Epub 2018 Mar 30 doi: 10.1002/mds.27334. PMID: 29603387Free 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

Recent clinical studies

Etiology

Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia-experience from an Italian cohort.
Satolli S, Rossi S, Vegezzi E, Pellerin D, Manca ML, Barghigiani M, Battisti C, Bilancieri G, Bruno G, Capacci E, Casali C, Ceravolo R, Cocozza S, Cotti Piccinelli S, Criscuolo C, Danzi MC, De Micco R, De Michele G, Dicaire MJ, Falcone GMI, Fancellu R, Ferchichi Y, Ferrari C, Filla A, Fini N, Govoni A, Lo Vecchio F, Malandrini A, Mignarri A, Musumeci O, Nesti C, Pappatà S, Pellecchia MT, Perna A, Petrucci A, Pomponi MG, Ravenni R, Ricca I, Rufa A, Tabolacci E, Tessa A, Tessitore A, Zuchner S, Silvestri G, Cortese A, Brais B, Santorelli FM
J Neurol 2024 Aug;271(8):5478-5488. Epub 2024 Jun 17 doi: 10.1007/s00415-024-12506-x. PMID: 38886208
Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B).
Wirth T, Clément G, Delvallée C, Bonnet C, Bogdan T, Iosif A, Schalk A, Chanson JB, Pellerin D, Brais B, Roth V, Wandzel M, Fleury MC, Piton A, Calmels N, Namer IJ, Kremer S, Tranchant C, Renaud M, Anheim M
Mov Disord 2023 Oct;38(10):1950-1956. Epub 2023 Jul 20 doi: 10.1002/mds.29560. PMID: 37470282
Visuospatial Organization and Recall in Cerebellar Ataxia.
Slapik M, Kronemer SI, Morgan O, Bloes R, Lieberman S, Mandel J, Rosenthal L, Marvel C
Cerebellum 2019 Feb;18(1):33-46. doi: 10.1007/s12311-018-0948-z. PMID: 29949096
Cell biology of spinocerebellar ataxia.
Orr HT
J Cell Biol 2012 Apr 16;197(2):167-77. doi: 10.1083/jcb.201105092. PMID: 22508507Free PMC Article
Spinocerebellar ataxia type 1.
Donato SD, Mariotti C, Taroni F
Handb Clin Neurol 2012;103:399-421. doi: 10.1016/B978-0-444-51892-7.00025-5. PMID: 21827903

Diagnosis

Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia-experience from an Italian cohort.
Satolli S, Rossi S, Vegezzi E, Pellerin D, Manca ML, Barghigiani M, Battisti C, Bilancieri G, Bruno G, Capacci E, Casali C, Ceravolo R, Cocozza S, Cotti Piccinelli S, Criscuolo C, Danzi MC, De Micco R, De Michele G, Dicaire MJ, Falcone GMI, Fancellu R, Ferchichi Y, Ferrari C, Filla A, Fini N, Govoni A, Lo Vecchio F, Malandrini A, Mignarri A, Musumeci O, Nesti C, Pappatà S, Pellecchia MT, Perna A, Petrucci A, Pomponi MG, Ravenni R, Ricca I, Rufa A, Tabolacci E, Tessa A, Tessitore A, Zuchner S, Silvestri G, Cortese A, Brais B, Santorelli FM
J Neurol 2024 Aug;271(8):5478-5488. Epub 2024 Jun 17 doi: 10.1007/s00415-024-12506-x. PMID: 38886208
Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B).
Wirth T, Clément G, Delvallée C, Bonnet C, Bogdan T, Iosif A, Schalk A, Chanson JB, Pellerin D, Brais B, Roth V, Wandzel M, Fleury MC, Piton A, Calmels N, Namer IJ, Kremer S, Tranchant C, Renaud M, Anheim M
Mov Disord 2023 Oct;38(10):1950-1956. Epub 2023 Jul 20 doi: 10.1002/mds.29560. PMID: 37470282
NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia.
Coutelier M, Jacoupy M, Janer A, Renaud F, Auger N, Saripella GV, Ancien F, Pucci F, Rooman M, Gilis D, Larivière R, Sgarioto N, Valter R, Guillot-Noel L, Le Ber I, Sayah S, Charles P, Nümann A, Pauly MG, Helmchen C, Deininger N, Haack TB, Brais B, Brice A, Trégouët DA, El Hachimi KH, Shoubridge EA, Durr A, Stevanin G
Brain 2022 May 24;145(4):1519-1534. doi: 10.1093/brain/awab407. PMID: 34788392
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
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

Therapy

Factors influencing disease progression in autosomal dominant cerebellar ataxia and spastic paraplegia.
Tezenas du Montcel S, Charles P, Goizet C, Marelli C, Ribai P, Vincitorio C, Anheim M, Guyant-Maréchal L, Le Bayon A, Vandenberghe N, Tchikviladzé M, Devos D, Le Ber I, N'Guyen K, Cazeneuve C, Tallaksen C, Brice A, Durr A
Arch Neurol 2012 Apr;69(4):500-8. doi: 10.1001/archneurol.2011.2713. PMID: 22491195
The effect of 3,4-diaminopyridine on the patients with hereditary pure cerebellar ataxia.
Tsunemi T, Ishikawa K, Tsukui K, Sumi T, Kitamura K, Mizusawa H
J Neurol Sci 2010 May 15;292(1-2):81-4. Epub 2010 Feb 23 doi: 10.1016/j.jns.2010.01.021. PMID: 20181362
The effect of piracetam on ataxia: clinical observations in a group of autosomal dominant cerebellar ataxia patients.
Ince Gunal D, Agan K, Afsar N, Borucu D, Us O
J Clin Pharm Ther 2008 Apr;33(2):175-8. doi: 10.1111/j.1365-2710.2008.00901.x. PMID: 18315783
Ocular motility in genetically defined autosomal dominant cerebellar ataxia.
Durig JS, Jen JC, Demer JL
Am J Ophthalmol 2002 May;133(5):718-21. doi: 10.1016/s0002-9394(02)01328-4. PMID: 11992880
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

NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia.
Coutelier M, Jacoupy M, Janer A, Renaud F, Auger N, Saripella GV, Ancien F, Pucci F, Rooman M, Gilis D, Larivière R, Sgarioto N, Valter R, Guillot-Noel L, Le Ber I, Sayah S, Charles P, Nümann A, Pauly MG, Helmchen C, Deininger N, Haack TB, Brais B, Brice A, Trégouët DA, El Hachimi KH, Shoubridge EA, Durr A, Stevanin G
Brain 2022 May 24;145(4):1519-1534. doi: 10.1093/brain/awab407. PMID: 34788392
Visuospatial Organization and Recall in Cerebellar Ataxia.
Slapik M, Kronemer SI, Morgan O, Bloes R, Lieberman S, Mandel J, Rosenthal L, Marvel C
Cerebellum 2019 Feb;18(1):33-46. doi: 10.1007/s12311-018-0948-z. PMID: 29949096
The genetics of ataxia: through the labyrinth of the Minotaur, looking for Ariadne's thread.
Mancuso M, Orsucci D, Siciliano G, Bonuccelli U
J Neurol 2014 Sep;261 Suppl 2(Suppl 2):S528-41. doi: 10.1007/s00415-014-7387-7. PMID: 25145890Free PMC Article
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
A comprehensive review of spinocerebellar ataxia type 2 in Cuba.
Velázquez-Pérez L, Rodríguez-Labrada R, García-Rodríguez JC, Almaguer-Mederos LE, Cruz-Mariño T, Laffita-Mesa JM
Cerebellum 2011 Jun;10(2):184-98. doi: 10.1007/s12311-011-0265-2. PMID: 21399888

Clinical prediction guides

Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B).
Wirth T, Clément G, Delvallée C, Bonnet C, Bogdan T, Iosif A, Schalk A, Chanson JB, Pellerin D, Brais B, Roth V, Wandzel M, Fleury MC, Piton A, Calmels N, Namer IJ, Kremer S, Tranchant C, Renaud M, Anheim M
Mov Disord 2023 Oct;38(10):1950-1956. Epub 2023 Jul 20 doi: 10.1002/mds.29560. PMID: 37470282
NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia.
Coutelier M, Jacoupy M, Janer A, Renaud F, Auger N, Saripella GV, Ancien F, Pucci F, Rooman M, Gilis D, Larivière R, Sgarioto N, Valter R, Guillot-Noel L, Le Ber I, Sayah S, Charles P, Nümann A, Pauly MG, Helmchen C, Deininger N, Haack TB, Brais B, Brice A, Trégouët DA, El Hachimi KH, Shoubridge EA, Durr A, Stevanin G
Brain 2022 May 24;145(4):1519-1534. doi: 10.1093/brain/awab407. PMID: 34788392
Cerebellar Ataxia as a Common Clinical Presentation Associated with DNMT1 p.Y511H and a Review of the Literature.
Kikuchi JK, Nagashima Y, Mano T, Ishiura H, Hayashi T, Shimizu J, Matsukawa T, Ichikawa Y, Takahashi Y, Karino S, Kanbayashi T, Kira J, Goto J, Tsuji S
J Mol Neurosci 2021 Sep;71(9):1796-1801. Epub 2021 Jan 12 doi: 10.1007/s12031-020-01784-5. PMID: 33433851
Visuospatial Organization and Recall in Cerebellar Ataxia.
Slapik M, Kronemer SI, Morgan O, Bloes R, Lieberman S, Mandel J, Rosenthal L, Marvel C
Cerebellum 2019 Feb;18(1):33-46. doi: 10.1007/s12311-018-0948-z. PMID: 29949096
Factors influencing disease progression in autosomal dominant cerebellar ataxia and spastic paraplegia.
Tezenas du Montcel S, Charles P, Goizet C, Marelli C, Ribai P, Vincitorio C, Anheim M, Guyant-Maréchal L, Le Bayon A, Vandenberghe N, Tchikviladzé M, Devos D, Le Ber I, N'Guyen K, Cazeneuve C, Tallaksen C, Brice A, Durr A
Arch Neurol 2012 Apr;69(4):500-8. doi: 10.1001/archneurol.2011.2713. PMID: 22491195

Recent systematic reviews

A systematic review on the contribution of DNA methylation to hearing loss.
Patil V, Perez-Carpena P, Lopez-Escamez JA
Clin Epigenetics 2024 Jul 5;16(1):88. doi: 10.1186/s13148-024-01697-9. PMID: 38970134Free PMC Article
Spinocerebellar ataxias in Asia: Prevalence, phenotypes and management.
van Prooije T, Ibrahim NM, Azmin S, van de Warrenburg B
Parkinsonism Relat Disord 2021 Nov;92:112-118. Epub 2021 Oct 22 doi: 10.1016/j.parkreldis.2021.10.023. PMID: 34711523

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