Evidence for a new spinocerebellar ataxia locus

Movement Disorders

Volumn 12, Issue 3, 1997, Pages 412-417

  Higgins, J J ^a   Pho, L T ^a   Ide, S E ^b   Nee, L E ^a   Polymeropoulos, M H ^b  

^a NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

Dominantly inherited ataxia; Linkage analysis; Spinocerebellar ataxia

Indexed keywords

ARTICLE; ATAXIA; AUTOSOMAL DOMINANT INHERITANCE; CEREBELLAR ATAXIA; DEMYELINATION; DENTATORUBROPALLIDOLUYSIAN ATROPHY; FAMILIAL DISEASE; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC LINKAGE; HUMAN; MALE; OPHTHALMOPLEGIA; PHENOTYPE; PRIORITY JOURNAL; UNITED STATES;

ADOLESCENT; ADULT; BRAIN; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; DEMYELINATING DISEASES; DNA PRIMERS; FEMALE; GENE AMPLIFICATION; HUMANS; LINKAGE (GENETICS); MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; SPINOCEREBELLAR DEGENERATIONS;

EID: 0030988422     PISSN: 08853185     EISSN: None     Source Type: Journal    
DOI: 10.1002/mds.870120322     Document Type: Article

References (25)

1. Online Mendelian Inheritance in Man, OMIM (TM). Center for Medical Genetics, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD); 1996. World Wide Web URL:http:/ /www3.ncbi.nlm.nih.gov/omim/
2. Orr HT, Chung M, Banfi S, et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature Genet 1993;4:221-226.
3. Takiyama Y, Nishizawa M, Tanaka H, et al. The gene for Machado-Joseph disease maps to chromosome 14q. Nature Genet 1993:4:300-304.
4. Stevanin G, Le Guern E, Ravisé N, et al. A third locus for autosomal dominant cerebellar ataxia type 1 maps to chromosome 14q24.3-qter: evidence for the existence of a fourth locus. Am J Hum Genet 1994:54:11-20.
5. Kawaguchi Y, Okamoto T, Taniwaki M, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nature Genet 1994:8:221-228.
6. Higgins JJ, Nee LE, Vasconcelos O, et al. Mutations in American families with spinocerebellar ataxia (SCA) type 3: SCA3 is allelic to Machado-Joseph disease. Neurology 1996:46:208-213.
7. Pulst SM, Nechiporuk A, Nechiporuk T, et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nature Genet 1996:14:269-276.
8. 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. Nature Genet 1996; 14:277-284.
9. 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. Nature Genet 1996:14:285-291.
10. Gardner K, Alderson K, Galster B, Kaplan C, Leppert M, Ptacek L. Autosomal dominant spinocerebellar ataxia: clinical description of a distinct hereditary ataxia and genetic localization to chromosome 16 (SCA4) in a Utah kindred. Neurology 1994;44:A361.
11. Ranum LPW, Schut LJ, Lundgren JK, Orr HT, Livingston DM. Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. Nature Genet 1994;8:280-284.
12. Benomar A, Krols L, Stevanin G, et al. The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1. Nature Genet 1995;10:84-88.
13. Gouw LG, Kaplan CD, Haines JH, et al. Retinal degeneration characterizes a Spinocerebellar ataxia mapping to chromosome 3p. Nature Genet 1995:10:89-93.
14. Koide R, Ikeuchi T, Onodera O, et al. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nature Genet 1994;6:9-13.
15. Schalling M, Hudson TJ, Buetow KH, Housman DE. Direct detection of novel expanded trinucleolide repeats in the human genome. Nature Genet 1993:4:135-139.
16. Lindblad K, Savontaus M-L, Stevanin G, et al. An expanded CAG repeat sequence in Spinocerebellar ataxia type 7. Genome Research 1996:6:965-971.
17. Ikeuchi T, Koide R, Tanaka H, et al. Dentatorubral-pallidoluysian atrophy: clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat. Ann Neural 1995:37:769-775.
18. Twells R, Yenchitsomanus P-T, Sirinavin C, et al. Autosomal dominant cerebellar ataxia with dementia: evidence for a fourth disease locus. Hum Mol Genet 1994;3:177-180.
19. Lopes-Cendes I, Andermann E, Rouleau GA. Evidence for the existence of a fourth dominantly inherited spinocerebellar ataxia locus. Genomics 1994;21:270-274.
20. Ferguson FR, Critchely M. A clinical study of an heredo-familial disease resembling disseminated sclerosis. Brain 1929;52:203-225.
21. Harding AE. The clinical features and classification of the autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of the 'Drew family of Walworth.' Brain 1982; 105:1-28.
22. Giunti P, Sweeney MG, Harding AE. Detection of the MachadoJoseph disease/spinocerebellar ataxia three trinucleotide repeat in families with autosomal dominant motor disorders, including the Drew family of Walworth. Brain 1995;118:1077-1085.
23. Bell GI, Karam J, Rutter W. Polymorphic DNA region adjacent to the 5' end of the human insulin gene. Proc Naln Acad Sci USA 1981;78:5759-5763.
24. Gyapay JM, Morissette J, Vignal A, et al. The 1993-1994 Généthon human genetic linkage map. Nature Genet 1994;7:246-339.
25. Lathrop, GM, Lalouel J.M, Julier C, Ott J. Strategies for multilocus linkage analysis in humans. Proc Natn Acad Sci USA 1984;81: 3442-3446.