Genetic mapping of the spinocerebellar ataxia type 2 gene on human chromosome 12

Neurology

Volumn 46, Issue 6, 1996, Pages 1731-1735

  Nechiporuk, A ^a   Lopes Cendes, I ^b   Nechiporuk, T ^a   Starkman, S ^a   Andermann, E ^c   Rouleau, G A ^b   Weissenbach, J S ^d   Kort, E ^e   Pulst, S M ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b MONTREAL GENERAL HOSPITAL   (Canada)

^c MCGILL UNIVERSITY   (Canada)

^d GÉNÉTHON   (France)

^e UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 12; CHROMOSOME 14Q; CHROMOSOME 6P; CHROMOSOME MAP; GENE MUTATION; GENETIC COUNSELING; GENETIC LINKAGE; HEREDITARY ATAXIA; HUMAN; MAJOR CLINICAL STUDY; NERVE CELL NECROSIS; PRIORITY JOURNAL; SPINOCEREBELLAR DEGENERATION;

EID: 0030004280     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.46.6.1731     Document Type: Article

References (26)

1. Gudmundson K. The prevalence and occurrence of some rare neurological diseases in Iceland. Acta Neurol Scan 1969;45: 114-118.
2. Orr HT, Chung M, Banfi S, et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 1993;4:221-226.
3. Kawaguchi Y, Okamoto T, Taniwaki M, et al. CAG expansion in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 1994;8:221-227.
4. Gispert S, Twells R, Orozco G, et al. Chromosomal assignment of a 2nd locus for autosomal dominant cerebellar ataxia (SCA) to chromosome 12q23-24.1. Nat Genet 1993;4:295-299.
5. Pulst S-M, Nechiporuk A, Starkman S. Anticipation in spinocerebellar ataxia type 2. Nat Genet 1993;5:8-10.
6. Lopes-Cendes I, Andermann E, Attig E. Confirmation of the SCA-2 locus as an alternative locus for dominantly inherited spinocerebellar ataxia and refinement of the candidate region. Am J Hum Genet 1994;54:774-781.
7. Ihara T, Sasaki H, Wakisaka A, et al. Genetic heterogeneity of dominantly inherited olivopontocerebellar atrophy (OPCA) in the Japanese: linkage study of two pedigrees and evidence for the disease locus on the chromosome 12q. Jpn J Hum Genet 1994;39:305-313.
8. Belal S, Cancel G, Stevanin G, et al. A clinical and genetic analysis of a Tunisian family with autosomal dominant cerebellar ataxia type 1 linked to the SCA2 locus. Neurology 1994; 44:1423-1426.
9. Filla A, De Michele G, Banfi S, et al. Has spinocerebellar ataxia type 2 a distinct phenotype? Genetic and clinical study of an Italian family. Neurology 1995;45:793-796.
10. Gardner K, Alderson K, Galster B, et al. Autosomal dominant spinocerebellar ataxia: clinical description of a distinct hereditary ataxia and genetic localization to chromosome 16 (SCA4) in a Utah kindred [abstract]. Neurology 1994;44(suppl 2): A361.
11. Ranum LPW, Schut LJ, Lundgren JK, Orr HT, Livingston DM. Spinocerebellar ataxia type 5 in a family descent from the grandparents of President Lincoln maps to chromosome 11. Nat Genet 1994;8:280-284.
12. Gouw LG, Kaplan GD, Haines JH, et al. Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p. Nat Genet 1995;10:89-93.
13. Litt M, Kramer P, Browne D, et al. A gene for episodic ataxia/ myokymia maps to chromosome 12p13. Am J Hum Genet 1994;55:702-709.
14. Gyapay G, Morissette J, Vignal A, et al. The 1993-94 Genethon human genetic linkage map. Nat Genet 1994;7:246-339.
15. Buetow KH, Weber JCL, Ludwigsen S, et al. Integrated human genome-wide maps constructed using the CEPH reference panel. Nat Genet 1994;6:391-399.
16. Baser ME, Mautner V-F, Ragge NK, et al. Presymptomatic diagnosis in neurofibromatosis 2 using linked genetic markers, neuroimaging, and ocular examinations. Neurology (in press).
17. Briggs MD, Rasmussen IM, Yuen J, et al. Genetic linkage of mild pseudoachondroplasia (PSACH) to markers in the pericentromeric region of chromosome 19. Genomics 1993;18:656-660.
18. Nechiporuk A, Fain P, Kort E. Linkage of familial Alzheimer disease to chromosome 14 in two large early onset pedigrees: effects of marker allele frequencies on lod scores. Neuropsychiatric Genet 1993;48:63-66.
19. Pulst S-M, Graham J, Barker D, Fain P, Pribyl T, Korenberg JR. The achondroplasia gene is not linked to the locus for neurofibromatosis 1 on chromosome 17. Hum Genet 1990;85: 12-14.
20. Sieb JP, Pulst SM, Buch A. Familial CNS tumors. J Neurol 1992;239:343-344.
21. Biggin MD, Gibson TJ, Hong GAF. Buffer gradient gels and 35S label as an aid to rapid DNA sequences determination. Proc Natl Acad Sci USA 1983;80:3963-3965.
22. Fashman KH, Cuticchia AJ, Kingsbury DT. The GDB™ human genome data base anno 1994. Nucl A Res 1994;22:3462-3469.
23. Weissenbach J, Gyapay G, Dib C, et al. A second generation linkage map of the human genome. Nature 1992;359:794-801.
24. Lathrop GM, Lalouel JM, Ott J. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 1984;83: 3443-3445.
25. Lander ES, Green P. Construction of multilocus genetic linkage maps in humans. Proc Natl Acad Sci USA 1987;84:2363-2367.
26. Rosenberg RN. Autosomal dominant cerebellar phenotypes: the genotype will settle the issue. Neurology 1995;45:1-5.