Spinocerebellar ataxias in the Netherlands: Prevalence and age at onset variance analysis

Neurology

Volumn 58, Issue 5, 2002, Pages 702-708

  Van De Warrenburg, B P C ^a   Sinke, R J ^c   Verschuuren Bemelmans, C C ^b   Scheffer, H ^b   Brunt, E R ^b   Ippel, P F ^c   Maat Kievit, J A ^d   Dooijes, D ^d   Notermans, N C ^c   Lindhout, D ^c   Knoers, N V A M ^a   Kremer, H P H ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^d ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GENE PRODUCT; POLYGLUTAMINE;

ADULT; ANALYSIS OF VARIANCE; ARTICLE; BRAIN DEGENERATION; FAMILY; GENE LOCUS; GENETIC HETEROGENEITY; HUMAN; MAJOR CLINICAL STUDY; MOLECULAR CLONING; MUTATIONAL ANALYSIS; NETHERLANDS; NEUROTOXICITY; NUCLEOTIDE REPEAT; ONSET AGE; PATHOPHYSIOLOGY; PREVALENCE; PRIORITY JOURNAL; REGRESSION ANALYSIS; SPINOCEREBELLAR DEGENERATION;

EID: 0037066111     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.58.5.702     Document Type: Article

References (69)

1. Classification of the hereditary ataxias and paraplegias
2. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
3. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats
4. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
5. Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): Clinical description and genetic localization to chromosome 16q22.1
6. Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11
7. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel
8. The gene for autosomal dominant cerebellar ataxia type II is located in a 5-cM region in 3p12-p13: Genetic and physical mapping of the SCA7 locus
9. An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)
10. Mapping of the gene for a novel spinocerebellar ataxia with pure cerebellar signs and epilepsy
11. Autosomal dominant cerebellar ataxia type III: Linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3
12. Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12
13. Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation
14. A novel locus for dominant cerebellar ataxia (SCA14) maps to a 10.2-cM interval flanked by D19S206 and D19S605 on chromosome 19q13.4-qter
15. A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: A new polyglutamine disease?
16. A novel type of autosomal-dominant cerebellar ataxia linked to chromosome 8q
17. SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein
18. Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10
19. Autosomal dominant cerebellar ataxia: Phenotypic differences in genetically defined subtypes?
20. Clinical and molecular advances in autosomal dominant cerebellar ataxias: From genotype to phenotype and physiopathology
21. The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease
22. Molecular and clinical correlations in spinocerebellar ataxia 2: A study of 32 families
23. Molecular and clinical study of 18 families with ADCA type II: Evidence for genetic heterogeneity and de novo mutation
24. Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1
25. Prevalence of hereditary ataxias and paraplegias in the province of Torino, Italy
26. Adult-onset hereditary ataxia in Scotland
27. Hereditary ataxias and paraplegias in Valle d'Aosta, Italy: A study of prevalence and disability
28. Hereditary ataxias and paraplegias in Cantabria, Spain. An epidemiological and clinical study
29. The hereditary ataxias
30. Hereditary ataxias and spastic paraplegias: Methodological aspects of a prevalence study in Portugal
31. Epidemiology of the inherited ataxias
32. Spino-cerebellar ataxia in Western Norway
33. Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations
34. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion
35. Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7)
36. The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia
37. Molecular and clinical correlations in spinocerebellar ataxia type I: Evidence for familial effects on the age at onset
38. Spinocerebellar ataxia type 2. Genotype and phenotype in German kindreds
39. Spinocerebellar ataxia 3 and Machado-Joseph disease: Clinical, molecular, and neuropathological features
40. Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype
41. Feature of autosomal dominant cerebellar ataxias with CAG repeat expansions
42. Spinocerebellar ataxia type 1 and Machado-Joseph disease: Incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia
43. Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients
44. Autosomal dominant ataxia: Genetic evidence for locus heterogeneity from a Cuban founder-effect population
45. Relative frequencies of CAG expansions in spinocerebellar ataxia and dentatorubropallidoluysian atrophy in 116 Italian families
46. Frequency of spinocerebellar ataxia types 1,2,3,6,7 and dentatorubral pallidoluysian atrophy mutations in Korean patients with spinocerebellar ataxia
47. Molecular analysis of autosomal dominant hereditary ataxias in the Indian population: High frequency of SCA2 and evidence for a common founder mutation
48. Spinocerebellar ataxia type 6. Molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion
49. Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds
50. The natural history of degenerative ataxia: A retrospective study in 466 patients
51. Identification and characterization of an ataxin-1-interacting protein: A1Up, a ubiquitin-like nuclear protein
52. Expanded polyglutamine stretches interact with TAFII130, interfering with CREB-dependent transcription
53. Ataxin-3 is translocated into the nucleus for the formation of intranuclear inclusions in normal and Machado-Joseph disease brains
54. Ataxin-3 with an altered conformation that exposes the polyglutamine domain is associated with the nuclear matrix
55. The spinocerebellar ataxia type 1 protein, ataxin-1, has RNA-binding activity that is inversely affected by the length of its polyglutamine tract
56. The length of polyglutamine tract, its level of expression, the rate of degradation, and the transglutaminase activity influence the formation of intracellular aggregates
57. Polyglutamine-mediated aggregation and cell death
58. Glutamine repeats and neurodegenerative diseases: Molecular aspects
59. Cause of neural death in neurodegenerative diseases attributable to expansion of glutamine repeats
60. Spinocerebellar ataxia type 6 mutation alters P-type calcium channel function
61. CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2)
62. Relationships of the 2642 deletion polymorphism (delta 2642) in the huntingtin gene with the CAG repeat expansion length and age at onset of the disease
63. Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington disease
64. Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1
65. A novel protein with RNA-binding motifs interacts with ataxin-2
66. The SCA8 transcript is an antisense RNA to a brain-specific transcript encoding a novel actin-binding protein (KLHL1)
67. An unstable trinucleotide-repeat region on chromosome 13 implicated in spinocerebellar ataxia: A common expansion locus
68. Are (CTG)n expansions at the SCA8 locus rare polymorphisms?
69. Large, expanded repeats in SCA8 are not confined to patients with cerebellar ataxia