A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1

被引：44

作者：

Vuillaume, I

Devos, D

Schraen-Maschke, S

Dina, C

Lemainque, A

Vasseur, F

Bocquillon, G

Devos, P

Kocinski, C

Marzys, C

Destée, A

Sablonnière, B

机构：

[1] Ctr Hosp Reg & Univ, Hop R Salengro, Lab Biochim & Biol Mol, Unite Fonct Neurobiol, F-59037 Lille, France

[2] Lab Biochim & Biol Mol, Unite Fonct Neurobiol, Lille, France

[3] INSERM, U422, F-59045 Lille, France

[4] Hop R Salengro, Federat Neurol, Lille, France

[5] CNRS, UPRESA 8090, Inst Biol Lille, Lille, France

[6] Ctr Natl Genotypage, Evry, France

来源：

ANNALS OF NEUROLOGY | 2002年 / 52卷 / 05期

关键词：

D O I：

10.1002/ana.10344

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We investigated a French family with a new type of autosomal dominant spinocerebellar ataxia that was excluded from all previously identified genes and loci. The patients exhibited a slowly progressive gait and limb ataxia variably associated with akinesia, rigidity, tremor, and hyporeflexia. A mild cognitive impairment also was observed in some cases. We performed a genomewide search and found significant evidence for linkage to chromosome 7p21.3-p15.1. Analysis of key recombinants and haplotype reconstruction traced this novel spinocerebellar ataxia locus to a 24cM interval flanked by D7S2464 and D7S516.

引用

页码：666 / 670

页数：5

共 20 条

[1] Clinical features and genetic analysis of a new form of spinocerebellar ataxia [J].

Devos, D ;

Schraen-Maschke, S ;

Vuillaume, I ;

Dujardin, K ;

Nazé, P ;

Willoteaux, C ;

Destée, A ;

Sablonnière, B .

NEUROLOGY, 2001, 56 (02) :234-238

[2] A comprehensive genetic map of the human genome based on 5,264 microsatellites [J].

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 .

NATURE, 1996, 380 (6570) :152-154

[3] FUNCTIONAL ANALYSES OF THE TRANSCRIPTION FACTOR SP4 REVEAL PROPERTIES DISTINCT FROM SP1 AND SP3 [J].

HAGEN, G ;

DENNIG, J ;

PREISS, A ;

BEATO, M ;

SUSKE, G .

JOURNAL OF BIOLOGICAL CHEMISTRY, 1995, 270 (42) :24989-24994

[4]

HARDING AE, 1993, ADV NEUROL, V61, P1

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

Herman-Bert, A ;

Stevanin, G ;

Netter, JC ;

Rascol, O ;

Brassat, D ;

Calvas, P ;

Camuzat, A ;

Yuan, QP ;

Schalling, M ;

Dürr, A ;

Brice, A .

AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (01) :229-235

[6]

Klockgether Thomas, 2000, Current Opinion in Neurology, V13, P451, DOI 10.1097/00019052-200008000-00014

[7]

LATHROP GM, 1984, AM J HUM GENET, V36, P460

[8] 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

[9] A novel autosomal dominant spinocerebellar ataxia (SCA16) linked to chromosome 8q22.1-24.1 [J].

Miyoshi, Y ;

Yamada, T ;

Tanimura, M ;

Taniwaki, T ;

Arakawa, K ;

Ohyagi, Y ;

Furuya, H ;

Yamamoto, K ;

Sakai, K ;

Sasazuki, T ;

Kira, J .

NEUROLOGY, 2001, 57 (01) :96-100

[10] Expression of mouse igf2 mRNA-binding protein 3 and its implications for the developing central nervous system [J].

Mori, H ;

Sakakibara, S ;

Imai, T ;

Nakamura, Y ;

Iijima, T ;

Suzuki, A ;

Yuasa, Y ;

Takeda, M ;

Okano, H .

JOURNAL OF NEUROSCIENCE RESEARCH, 2001, 64 (02) :132-143

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