Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation

American Journal of Human Genetics

Volumn 67, Issue 1, 2000, Pages 229-235

  Herman Bert, Alexandra ^a   Stevanin, Giovanni ^a,e   Netter, Jean Claude ^b   Rascol, Olivier ^c   Brassat, David ^c   Calvas, Patrick ^c   Camuzat, Agnès ^a   Yuan, Qiu Ping ^d   Schalling, Martin ^d   Dürr, Alexandra ^a   Brice, Alexis ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b Ctr Hosp Intercommunal Tarbes V   (France)

^c CHU PURPAN   (France)

^d KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^e INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CEREBELLAR ATAXIA; CHROMOSOME 19Q; CHROMOSOME MAP; CLINICAL ARTICLE; FEMALE; GENE EXPRESSION; GENE LOCUS; GENE MAPPING; HUMAN; MALE; MARKER GENE; MENTAL DEFICIENCY; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PRESCHOOL CHILD; PRIORITY JOURNAL;

ATAXIA;

EID: 0033910529     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302958     Document Type: Article

References (25)

1. Barone R, Pavone L, Fiumara A, Bianchini R, Jacken J (1999) Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (phosphomannomutase deficiency). Brain Dev 21:260-263
2. Broman KW, Murray JC, Sheffield VC, White RL, Weber JL (1998) Comprehensive human genetic maps: individual and sex-specific variation in recombination. Am J Hum Genet 63:861-869
3. Burk K, Globas C, Bosch S, Graber S, Abele M, Brice A, Dichgans J, et al (1999) Cognitive deficits in spinocerebellar ataxia 2. Brain 122:769-777
4. Cancel G, Durr A, Didierjean O, Imbert G, Burk K, Lezin A, Belal S, et al (1997) Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families. Hum Mol Genet 6:709-715
5. Cottingham RW Jr, Idury RM, Schäffer AA (1993) Faster sequential genetic linkage computations. Am J Hum Genet 53: 252-263
6. David G, Durr A, Stevanin G, Cancel G, Abbas N, Benomar A, Belal S, et al (1998) Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7). Hum Mol Genet 7:165-170
7. Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, et al (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154
8. Dubourg O, Durr A, Cancel G, Stevanin G, Chneiweiss H, Penet C, Agid Y, et al (1995) Analysis of the SCA1 CAG repeat in a large number of families with dominant ataxia: clinical and molecular correlations. Ann Neurol 37:176-180
9. Giunti P, Stevanin G, Worth P, David G, Brice A, Wood NW (1999) Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation. Am J Hum Genet 64:1594-1603
10. Harding AE (1993) Clinical features and classification of inherited ataxias. Adv Neurol 61:1-14
11. Holmes SE, O'Hearn EE, McInnis MG, Gorelick-Feldman DA, Kleiderlein JJ, Callahan C, Kwak NG, et al (1999) Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12. Nat Genet 23:391-392
12. Klockgether T, Skalej M, Wedekind D, Luft AR, Weite D, Schulz JB, Abele M, et al (1998) Autosomal dominant cerebellar ataxia type I: MRI-based volumetry of posterior fossa structures and basal ganglia in spinocerebellar ataxia types 1, 2 and 3. Brain 121:1687-1693
13. Koob MD, Moseley ML, Schut LJ, Benzow KA, Bird TD, Day JW, Ranum LP (1999) An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). Nat Genet 21:379-384
14. Lathrop GM, Lalouel JM, Julier C, Ott J (1985) Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet 37:482-498
15. Matsuura T, Madhureeta A, Mehrdad K, Bachinski LL, Zoghbi HY, Ashizawa T (1999) Mapping of the gene for a novel spinocerebellar ataxia with pure cerebellar signs and epilepsy. Ann Neurol 45:407-441
16. Nystuen A, Benke PJ, Merren J, Stone EM, Sheffield VC (1996) A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands. Hum Mol Genet 5:525-531
17. Stevanin G, Dürr A, Brice A (2000) Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology. Eur J Hum Genet 8:4-18
18. Stevanin G, Herman A, Brice A, Dürr A (1999) Clinical and MRI findings in spinocerebellar ataxia type 5. Neurology 53:1355-1357
19. Stevanin G, LeGuern E, Ravise N, Chneiweiss H, Durr A, Cancel G, Vignal A, et al (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
20. Stevanin G, Trottier Y, Cancel G, Durr A, David G, Didierjean O, Burk K, et al (1996) Screening for proteins with polyglutamine expansions in autosomal dominant cerebellar ataxias. Hum Mol Genet 5:1887-1892
21. Trojano L, Chiacchio L, Grossi D, Pisacreta AI, Calabrese O, Castaldo I, De Michele G, et al (1998) Determinants of cognitive disorders in autosomal dominant cerebellar ataxia type 1. J Neurol Sci 157:162-167
22. Trottier Y, Lutz Y, Stevanin G, Imbert G, Devys D, Cancel G, Saudou F, et al (1995) Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias. Nature 378:403-406
23. Zander C, Thelaus J, Lindblad K, Karlsson M, Sjöberg K, Schalling M (1998) Multivariate analysis of factors influencing repeat expansion detection. Genome Res 8: 1085-1094
24. Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, et al (1997) Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet 15:62-69
25. Zu L, Figueroa KP, Grewal R, Pulst SM (1999) Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22. Am J Hum Genet 64:594-599