Refinement of the locus for autosomal dominant cerebellar ataxia type II to chromosome 3p21.1-14.1

Human Genetics

Volumn 99, Issue 2, 1997, Pages 225-232

  Krols, Luc ^a   Martin, Jean Jacques ^b   David, Gilles ^c   Van Regemorter, Nicole ^d   Benomar, Ali ^e   Löfgren, Ann ^a   Stevanin, Giovanni ^c   Dürr, Alexandra ^c   Brice, Alexis ^c   Van Broeckhoven, Christine ^a  

^a DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^b UNIVERSITY OF ANTWERP   (Belgium)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^d UNIVERSITÉ LIBRE DE BRUXELLES   (Belgium)

^e IBN SINA HOSPITAL   (Morocco)

Author keywords

[No Author keywords available]

Indexed keywords

DNA MARKER;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CEREBELLAR ATAXIA; CHROMOSOME 3; CHROMOSOME 3P; DNA POLYMORPHISM; FEMALE; GENE LOCATION; HAPLOTYPE; HUMAN; HUMAN CELL; MALE; PRIORITY JOURNAL; TANDEM REPEAT; TRINUCLEOTIDE REPEAT;

CEREBELLAR ATAXIA; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 3; FEMALE; GENES, DOMINANT; HUMANS; LINKAGE (GENETICS); MALE; PEDIGREE; REPETITIVE SEQUENCES, NUCLEIC ACID;

ATAXIA;

EID: 17344394539     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050344     Document Type: Article

References (25)

1. Benomar A, Le Guern E, Durr A, Ouhabi H, Stevanin G, Yahyaoui M, Chkili T, Agid Y, Brice A (1994) Autosomal-dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I. Ann Neurol 35:439-444
2. Benomar A, Krols L, Stevanin G, Cancel G, LeGuern E, David G, Ouhabi H, Martin J-J, Dürr A, Zaim A, Ravise N, Busque C, Penet C, Van Regemorter N, Weissenbach J, Yahyaoui M, Chkili T, Agid Y, Van Broeckhoven C, Brice A (1995) The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1. Nature Genet 10:84-88
3. Cottingham R, Indury R, Schäffer A (1993) Faster sequential genetic linkage computations. Am J Hum Genet 53:252-263
4. Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, Marc S, Hazan J, Seboun E, Lathrop M, Gyapay G, Morissette J, Weissenbach J (1996) A comprehensive genetic map of the human genome based on 5264 microsatellites. Nature 380:152-154
5. Gardner K, Alderson K, Galster B, Kaplan C, Leppert M, Ptacek L (1994) Autosomal dominant cerebellar ataxia: clinical discription of a distinct hereditary ataxia and genetic localisation to chromosome 16q (SCA4) in a Utah kindred (abstract). Neurology 44 (Suppl 2):A361
6. Gispert S, Twells R, Orozco G, Brice A, Weber J, Heredero L, Scheufler K, Riley B, Allotey R, Nothers C, Hillermann R, Linkes A, Khati C, Stevanin G, Hernandez A, Magariño C, Klockgether T, Durr A, Chneiweiss H, Enczmann J, Farrall M, Beckmann J, Mullan M, Wernet P, Agid Y, Freund H, Williamson R, Auburger G, Chamberlain S (1993) Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) on human chromosome 12q23-24.1. Nature Genet 4:295-299
7. Gouw L, Kaplan C, Haines J, Digre K, Rutledge S, Matilla A, Leppert M, Zoghbi H, Ptacek L (1995) Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p. Nature Genet 10:89-93
8. Harding AE, Deufel T (1993) Clinical features and classification of inherited ataxias. Adv Neurol 61:1-14
9. Holmberg M, Johansson J, Forsgren L, Heijbel J, Sandgren O, Holmgren G (1995) Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1. Hum Mol Genet 4:1441-1445
10. Hudson T, Stein LD, Gerety S, Castle A, Saliva J, Slonim D, Baptista R, Kruglyak L, Xu S, Hu X, Colbert A, Rosenberg C, Reeve-Daly M, Rozen S, Hui L, Wu X, Vestergaard C, Wilson K, Bae J, Maitra S, Ganiatsas S, Evans C, DeAngelis M, Ingalls K, Nahf R, Horton L, Anderson M, Collymore A, Ye W, Kouyoumijan V, Zemsteva I, Tam J, Devine R, Courtney D, Renaud M, Nguyen H, O'Connor T, Fizames C, Fauré S, Gyapay G, Dib C, Morissette J, Orlin J, Birren B, Goodman N, Weissenbach J, Hawkins T, Foote S, Page D, Lander S (1995) An STS-based map of the human genome. Science 270:1945-1954
11. Kawaguchi Y, Okamoto; T, Taniwaki M, Aizawa M, Inoue M, Katayama S, Kawakami H, Nakamura S, Nishimura M, Akiguchi I, Kimura J, Narumiya S, Kakizuka A (1995) CAG expansion in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nature Genet 8:221-228
12. Lathrop GM, Lalouel J (1984) Easy calculations of LOD scores and genetic risks on small computers. Am J Hum Genet 36: 460-465
13. Lathrop GM, Lalouel J, Julier C, Ott J (1984) Strategies for multilocus analysis in humans. Proc Natl Acad Sci USA 81:3443-3446
14. Lathrop GM, Lalouel J, White RL (1986) Construction of human genetic linkage maps: likelihood calculations for multilocus analysis. Genet Epidemiol 3:39-52
15. Martin J-J, Van Regemorter N, Krols L, Brucher J, Barsy T de, Szliwowski H, Evrard P, Ceuterick C, Tassignon M, SmetDieleman H, Heyez-Delatte F, Willems P, Van Broeckhoven C (1994) On an autosomal dominant form of retinal-cerebellar degeneration: an autopsy study of five patients in one family. Acta Neuropathol 88:277-286
16. Orr H, Chung M, Banfi S, Kwiatkowski T, Servadio A, Beaudet A, McCall A, Duvick L, Ranum L, Zoghbi H (1993) Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature Genet 4:221-226
17. Ott J (1991). Analysis of human genetic linkage. Johns Hopkins University Press, Baltimore
18. Ranum L, Schut L, Lundgren J, Orr H, Livingston D (1994) Spinacerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. Nature Genet 8:280-284
19. Schalling M, Hudson T, Buetow K, Housman D (1993) Direct detection of novel expanded trinucleotide repeats in the human genome. Nature Genet 4:135-139
20. Schäffer A, Gupta S, Shriram K, Cottingham R (1994). Avoiding recomputation in genetic linkage analysis. Hum Hered 44:225-237
21. Stevanin G, Le Guern E, Ravisé N, Chneiweiss H, Dürr A, Cancel G, Vignal A, Boch A, Ruberg M, Penet C, Pothin Y, Lagroua I, Haguenau M, Rancurel G, Weissenbach J, Agid Y, Brice A (1994) A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter: evidence for the existence of a fourth locus. Am J Hum Genet 54:11-20
22. Takiyama Y, Nishizawa M, Tanaka H, Kawashima S, Sakamoto H, Karube Y, Shimazaki H, Soutome M, Endo K, Ohta S, Kagawa Y, Kanazawa I, Mizuno Y, Yoshida M, Yuasa T, Horikawa Y, Oyanagi K, Nagai H, Kondo T, Inuzuka T, Onodera O, Tsuji S (1993) The gene for Machado-Joseph desease maps to human chromosome 14q. Nature Genet 4:300-304
23. Trottier Y, Lutz Y, Stevanin G, Imbert G, Devys D, Cancel G, Saudou F, Weber C, David G, Tora L, Agid Y, Brice A, Mandel J (1995) Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias. Nature 378:403-406
24. Weiner L, Konigsmark B, Stoll J, Magladery J (1967) Hereditary olivopontocerebellar atrophy with retinal degeneration. Report of a family through 6 generations. Arch Neurol 16:376
25. Zoghbi H, Sandkuijl LA, Ott J, Daiger S, Pollack M, O'Brein W, Beaudet A (1989) Assignment of autosomal dominant spinocerebellar ataxia (SCA1) centromeric to the HLA region on the short arm of chromosome 6, using multilocus linkage analysis. Am J Hum Genet 44:255-263