Meiotic CAG repeat instability in spinocerebellar ataxia type 6: Maternally transmitted elongation in a presumed sporadic case

Journal of the Neurological Sciences

Volumn 241, Issue 1-2, 2006, Pages 95-98

  Lindquist, Suzanne Granhøj ^a,b   Nørremølle, Anne ^a   Hjermind, Lena Elisabeth ^a   Hasholt, Lis ^a   Nielsen, Jørgen Erik ^a,b  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b Mental Health Center Glostrup   (Denmark)

Author keywords

CAG repeat; Meiotic instability; SCA6; Spinocerebellar ataxia type 6

Indexed keywords

ADULT; AGED; ALLELE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; FAMILY HISTORY; FEMALE; GENETIC ANALYSIS; HUMAN; LABORATORY TEST; MALE; MEIOSIS; MOLECULAR GENETICS; NEUROLOGIC EXAMINATION; NUCLEOTIDE REPEAT; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; SPINOCEREBELLAR ATAXIA TYPE 6; SPINOCEREBELLAR DEGENERATION;

AGED; ANTICIPATION, GENETIC; CALCIUM CHANNELS; DISEASE TRANSMISSION, VERTICAL; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; PEDIGREE; SPINOCEREBELLAR ATAXIAS; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 30944447452     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2005.10.004     Document Type: Article

References (14)

1. A.E. Harding The clinical features classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of "the Drew family of Walworth" Brain 105 1982 1 28
2. L. Schöls, P. Bauer, T. Schmidt, T. Schultze, and O. Riess Autosomal dominant cerebellar ataxias: clinical features, genetics and pathogenesis Lancet Neurol 3 2004 291 304
3. 1A-voltage-dependent calcium channel Nat Genet 15 1997 62 69
4. R.J. Sinke, E.F. Ippel, C.M. Diepstraten, F.A. Beemer, J.H.J. Wokke, and B.J. Hilten Clinical and molecular correlations in spinocerebellar ataxia type 6. A study of 24 Dutch families Arch Neurol 58 2001 1839 1844
5. Z. Matsuyama, H. Kawakami, H. Maruyama, Y. Izumi, O. Komure, and F. Udaka Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6) Hum Mol Genet 6 1997 1283 1287
6. 2+ channel gene CACNL1A4 Cell 87 1996 543 552
7. n repeat units in normal elder controls J Neurol Sci 161 1998 85 87
8. C. Jodice, E. Mantuano, L. Veneziano, F. Trettel, G. Sabbadini, and L. Calandriello Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p Hum Mol Genet 6 1997 1973 1978
9. 1A voltage-dependent calcium channel gene and clinical variations in Japanese population Ann Neurol 42 1997 879 884
10. H. Shimazaki, Y. Takiyama, K. Sakoe, M. Amaike, H. Nagaki, and M. Namekawa Meiotic instability of the CAG repeats in the SCA6/CACNA1A gene in two Japanese SCA6 families J Neurol Sci 185 2001 101 107
11. R. Matsumura, N. Futamura, Y. Fujimoto, S. Yanagimoto, H. Horikawa, and A. Suzumura Spinocerebellar ataxia type 6: molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion Neurology 49 1997 1238 1243
12. H. Takahashi, K. Ishikawa, T. Tsutsumi, H. Fujigasaki, A. Kawata, and R. Okiyama A clinical and genetic study in a large cohort of patients with spinocerebellar ataxia type 6 J Hum Genet 49 2004 256 264
13. H.Y. Zoghbi CAG repeats in SCA6: anticipating new clues Neurology 49 5 1997 1196 1199
14. L. Schöls, S. Szymanski, S. Peters, H. Przuntek, J.T. Epplen, and C. Hardt Genetic background of apparently idiopathic sporadic cerebellar ataxia Hum Genet 107 2000 132 137