Autosomal dominant cerebellar ataxias: A systematic review of clinical features

European Journal of Neurology

Volumn 21, Issue 4, 2014, Pages 607-615

  Rossi, M ^a   Perez Lloret, S ^b,c   Doldan, L ^a   Cerquetti, D ^a   Balej, J ^a   Millar Vernetti, P ^a   Hawkes, M ^a   Cammarota, A ^a   Merello, M ^a,c  

^a Instituto de Investigaciones Neurologicas Raul Carrera   (Argentina)

^b PONTIFICIA UNIVERSIDAD CATÓLICA ARGENTINA   (Argentina)

^c Facultad de Ciencias Naturales e Instituto M Lillo   (Argentina)

Author keywords

Ataxia and gait disorders; Movement disorders; Spinocerebellar ataxia; Systematic review

Indexed keywords

AKATHISIA; ARTICLE; ATAXIC GAIT; AUTONOMIC DYSFUNCTION; AUTOSOMAL DOMINANT CEREBELLAR ATAXIA; AUTOSOMAL DOMINANT DISORDER; CEREBELLAR ATAXIA; CLINICAL FEATURE; COGNITIVE DEFECT; DENTATORUBROPALLIDOLUYSIAN ATROPHY; DIPLOPIA; DISEASE COURSE; DIZZINESS; DYSARTHRIA; DYSTONIA; FASCICULATION; FATIGUE; GENE LOCUS; HEADACHE; HEARING IMPAIRMENT; HUMAN; MICROCEPHALY; MUSCLE CRAMP; NEUROMUSCULAR DISEASE; NYSTAGMUS; ONSET AGE; OPHTHALMOPLEGIA; PAIN; PARKINSONISM; PRIORITY JOURNAL; RESTLESS LEGS SYNDROME; SACCADIC EYE MOVEMENT; SCA18 GENE; SCREENING; SEIZURE; SLEEP DISORDER; SPASTIC PARAPLEGIA; SPASTICITY; SPINOCEREBELLAR DEGENERATION; SYSTEMATIC REVIEW; TINNITUS; TREMOR; VISUAL IMPAIRMENT; VOMITING; WEAKNESS;

ADULT; AGE OF ONSET; DATABASES, FACTUAL; FEMALE; HUMANS; MALE; MIDDLE AGED; SPINOCEREBELLAR ATAXIAS; YOUNG ADULT;

EID: 84897928687     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/ene.12350     Document Type: Article

References (20)

1. Schöls L, Bauer P, Schmidt T, Schulte T, Riess O. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol 2004; 3: 291-304.
2. Durr A. Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. Lancet Neurol 2010; 9: 885-894.
3. Matilla-Dueñas A. The ever expanding spinocerebellar ataxias. Editorial. Cerebellum 2012; 11: 821-827.
4. Paulson H. Yet another spinocerebellar ataxia - will it ever end? Lancet Neurol 2002; 1: 471.
5. Verbeek DS, van de Warrenburg BP. Genetics of the dominant ataxias. Semin Neurol 2011; 31: 461-469.
6. Harding AE. The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of the 'the Drew family of Walworth'. Brain 1982; 105: 1-28.
7. Schelhaas HJ, Ippel PF, Beemer FA, Hageman G. Similarities and differences in the phenotype, genotype and pathogenesis of different spinocerebellar ataxias. Eur J Neurol 2000; 7: 309-314.
8. Manto MU. The wide spectrum of spinocerebellar ataxias (SCAs). Cerebellum 2005; 4: 2-6.
9. Marras C, Lohmann K, Lang A, Klein C. Fixing the broken system of genetic locus symbols: Parkinson disease and dystonia as examples. Neurology 2012; 78: 1016-1024.
10. Vale J, Bugalho P, Silveira I, Sequeiros J, Guimarães J, Coutinho P. Autosomal dominant cerebellar ataxia: frequency analysis and clinical characterization of 45 families from Portugal. Eur J Neurol 2010; 17: 124-128.
11. Ludbrook J. Multiple comparison procedures updated. Clin Exp Pharmacol Physiol 1998; 25: 1032-1037.
12. Julious SA, Campbell MJ. Tutorial in biostatistics: sample sizes for parallel group clinical trials with binary data. Stat Med 2012; 31: 2904-2936.
13. Han Y, Yu L, Zheng HM, Guan YT. Clinical and genetic study of spinocerebellar ataxia type 7 in East Asian population. Chin Med J (Engl) 2010; 123: 2274-2278.
14. Wardle M, Morris HR, Robertson NP. Clinical and genetic characteristics of non-Asian dentatorubral-pallidoluysian atrophy: a systematic review. Mov Disord 2009; 24: 1636-1640.
15. Globas C, Montcel ST, Baliko L, et al. Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6. Mov Disord 2008; 23: 2232-2238.
16. Teive HA, Munhoz RP, Raskin S, et al. Spinocerebellar ataxia type 10: frequency of epilepsy in a large sample of Brazilian patients. Mov Disord 2010; 25: 2875-2878.
17. Klockgether T. Update on degenerative ataxias. Curr Opin Neurol 2011; 24: 339-345.
18. Zumrová A. Problems and possibilities in the differential diagnosis of syndrome spinocerebellar ataxia. Neuro Endocrinol Lett 2005; 26: 98-108.
19. Jacobi H, Bauer P, Giunti P, et al. The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: a 2-year follow-up study. Neurology 2011; 77: 1035-1041.
20. Maschke M, Oehlert G, Xie TD, et al. Clinical feature profile of spinocerebellar ataxia type 1-8 predicts genetically defined subtypes. Mov Disord 2005; 20: 1405-1412.