Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10

被引:37
作者
Alonso, I.
Jardim, L. B.
Artigalas, O.
Saraiva-Pereira, M. L.
Matsuura, T.
Ashizawa, T.
Sequeiros, J.
Silveira, I.
机构
[1] UnI GENe, IBMC, P-4150180 Oporto, Portugal
[2] Univ Porto, ICBAS, Oporto, Portugal
[3] Hosp Clin Porto Alegre, Porto Alegre, RS, Brazil
[4] Nagoya Univ, Grad Sch Med, Dept Adv Med Sci, Ctr Neurol Dis & Canc, Nagoya, Aichi, Japan
[5] Univ Texas, Med Branch, Dept Neurol, Galveston, TX 77550 USA
关键词
D O I
10.1212/01.wnl.0000216266.30177.bb
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
[No abstract available]
引用
收藏
页码:1602 / 1604
页数:3
相关论文
共 7 条
[1]  
Fang P, 2002, AM J HUM GENET, V71, P552
[2]   Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10 [J].
Matsuura, T ;
Yamagata, T ;
Burgess', DL ;
Rasmussen, A ;
Grewal, RP ;
Watase, K ;
Khajavi, M ;
McCall, AE ;
Davis, CF ;
Zu, L ;
Achari, M ;
Pulst, SM ;
Alonso, E ;
Noebels, JL ;
Nelson, DL ;
Zoghbi, HY ;
Ashizawa, T .
NATURE GENETICS, 2000, 26 (02) :191-194
[3]   Polymerase chain reaction amplification of expanded ATTCT repeat in spinocerebellar ataxia type 10 [J].
Matsuura, T ;
Ashizawa, T .
ANNALS OF NEUROLOGY, 2002, 51 (02) :271-272
[4]   Spinocerebellar ataxia type 10 is rare in populations other than Mexicans [J].
Matsuura, T ;
Ranum, LPW ;
Volpini, V ;
Pandolfo, M ;
Sasaki, H ;
Tashiro, K ;
Watase, K ;
Zoghbi, HY ;
Ashizawa, T .
NEUROLOGY, 2002, 58 (06) :983-984
[5]   Reduced penetrance of the Huntington's disease mutation [J].
McNeil, SM ;
Novelletto, A ;
Srinidhi, J ;
Barnes, G ;
Kornbluth, I ;
Altherr, MR ;
Wasmuth, JJ ;
Gusella, JF ;
MacDonald, ME ;
Myers, RH .
HUMAN MOLECULAR GENETICS, 1997, 6 (05) :775-779
[6]   Autosomal dominant cerebellar ataxias:: clinical features, genetics, and pathogenesis [J].
Schöls, L ;
Bauer, P ;
Schmidt, T ;
Schulte, T ;
Riess, O .
LANCET NEUROLOGY, 2004, 3 (05) :291-304
[7]   Phenotypical variability of expanded alleles in the TATA-binding protein gene -: Reduced penetrance in SCA17? [J].
Zühlke, C ;
Gehlken, U ;
Hellenbroich, Y ;
Schwinger, E ;
Bürk, K .
JOURNAL OF NEUROLOGY, 2003, 250 (02) :161-163