Analysis of spinocerebellar ataxia types 1, 2, 3, and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK

Journal of Medical Genetics

Volumn 34, Issue 12, 1997, Pages 982-985

  Leggo, Jayne ^a   Dalton, Ann ^b   Morrison, Patrick J ^c   Dodge, Alan ^d   Connarty, Margaret ^e   Kotze, Maritha J ^f   Rubinsztein, David C ^a  

^a CAMBRIDGE UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^b SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^c BELFAST CITY HOSPITAL   (United Kingdom)

^d ST MARY S HOSPITAL   (United Kingdom)

^e SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^f STELLENBOSCH UNIVERSITY   (South Africa)

Author keywords

Friedreich's ataxia; Spinocerebellar ataxia; Trinucleotide repeat

Indexed keywords

AFRICA; AGED; ALLELE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CEREBELLAR ATAXIA; CHILD; CONTROLLED STUDY; DENTATORUBROPALLIDOLUYSIAN ATROPHY; FEMALE; FRIEDREICH ATAXIA; GENE; GENE FREQUENCY; GENE MUTATION; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; TRINUCLEOTIDE REPEAT; UNITED KINGDOM;

EID: 0030810204     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.12.982     Document Type: Article

References (26)

1. Genis D, Matilla T, Volpini V, et al. Clinical, neuropathologic and genetic studies of a large spinocerebellar ataxia type 1 (SCA) kindred: (CAG)n expansion and early premonitory signs and symptoms. Neurology 1995;45:24-9.
2. Harding AE. Hereditary ataxias and related disorders. Edinburgh: Churchill Livingstone, 1984.
3. Zoghbi H. The expanding world of ataxins. Nat Genet 1996;14:237-8.
4. Orr HT, Chung M, Banfi S, et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 1993;4:221-6.
5. Kawaguchi Y, Okamoto T, Taniwaki M, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 1994;8:221-7.
6. Sanpei K, Takano H, Igarashi S, et al. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nat Genet 1996;14:277-84.
7. Pulst SM, Nechiporuk A, Nechiporuk T, et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet 1996;14:269-76.
8. Imbert G, Saudou F, Yvert G, et al. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet 1994;14:285-91.
9. Zhuchenko O, Bailey J, Bonnen P, et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel. Nat Genet 1997;15:62-9.
10. Filla A, De Michele G, Cavalcanti F, et al. The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. Am J Hum Genet 1996;59:554-60.
11. Durr A, Cossee M, Agid Y, et al. Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med 1996;335:1169-75.
12. Ross CA. When more is less: pathogenesis of glutamine repeat neurodegenerative diseases. Neuron 1995;15:493-6.
13. Campuzano V, Montermini L, Molto MD, et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996;271:1423-7.
14. Kidd KK. Can we find genes for schizophrenia? Am J Med Genet (Neuropsychiatric Genet) 1997;74:104-11.
15. Rubinsztein DC, Leggo J, Coles R, et al. Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats. Am J Hum Genet 1996;59:16-22.
16. Rubinsztein DC, Leggo J, Coetzee GA, et al. Sequence variation and size ranges of CAG repeats in the Machado-Joseph disease, spinocerebellar ataxia type 1 and androgen receptor genes. Hum Mol Genet 1995;4:1585-90.
17. Rubinsztein DC, Leggo J, Amos W, et al. Myotonic dystrophy CTG repeats and the associated insertion/deletion polymorphism in human and primate populations. Hum Mol Genet 1994;3:2031-5.
18. Goldman A, Ramsay M, Jenkins T. Absence of myotonic dystrophy in Southern African Negroids is associated with a significantly lower number of CTG trincleotide repeats. J Med Genet 1994;31:37-40.
19. Li SH, McInnis MG, Margolis RL, et al. Novel triplet containing genes in human brain: cloning, expression, and length polymorphisms. Genomics 1993;16:572-9.
20. Connarty M, Dennis NR, Patch C, Macpherson JN, Harvey JF. Molecular re-investigation of patients with Huntington's disease in Wessex reveals a family with dentato-rubral and pallidoluysian atrophy. Hum Genet 1996;97:76-8.
21. Silviera I, Lopes-Cendes I, Kish S, et al. Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients. Neurology 1996;46:214-18.
22. Ranum LPW, Lundgren JK, Schut LJ, et al. 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. Am J Hum Genet 1995;57:603-8.
23. Geschwind DH, Perlman S, Figueroa CP, Treiman LJ, Pulst SM. The prevalence and wide spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia. Am J Hum Genet 1997;60:842-50.
24. Cancel G, Durr A, Didierjean O, et al. Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families. Hum Mol Genet 1997;6:709-15.
25. Rubinsztein DC, Amos W, Leggo J, et al. Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence. Nat Genet 1994;7:525-30.
26. Burke JR, Ikeuchi T, Koide R, et al. Dentatorubral-pallidoluysian atrophy and Haw River syndrome. Lancet 1994;344:1711-12.