Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region

被引：38

作者：

Hellenbroich, Y ^{[1
]}

Bubel, S ^{[1
]}

Pawlack, H ^{[1
]}

Opitz, S ^{[1
]}

Vieregge, P ^{[1
]}

Schwinger, E ^{[1
]}

Zühlke, C ^{[1
]}

机构：

[1] Med Univ Lubeck, Dept Human Genet, D-23538 Lubeck, Germany

来源：

JOURNAL OF NEUROLOGY | 2003年 / 250卷 / 06期

关键词：

SCA4; spinocerebellar ataxia; linkage analysis; CAG repeats;

D O I：

10.1007/s00415-003-1052-x

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Spinocerebellar ataxia type 4 (SCA4) is an autosomal dominant disorder mapped to chromosome 16q22.1 in a large Utah kindred. The clinical phenotype is characterized by cerebellar ataxia with sensory neuropathy. We describe a five-generation family from northern Germany with similar clinical findings linked to the same locus. Haplotype analyses refined the gene locus to a 3.69 cM interval between D16S3019 and D16S512. Analysis of nine CAG/CTG tracts in this region revealed no evidence for a repeat expansion.

引用

页码：668 / 671

页数：4

共 7 条

[1]

Flanigan K, 1996, AM J HUM GENET, V59, P392

[2]

HARDING AE, 1993, ADV NEUROL, V61, P1

[3] The spinocerebellar ataxias: order emerges from chaos. [J].

Margolis R.L. .

Current Neurology and Neuroscience Reports, 2002, 2 (5) :447-456

[4] A gene on SCA4 locus causes dominantly inherited pure cerebellar ataxia [J].

Nagaoka, U ;

Takashima, M ;

Ishikawa, K ;

Yoshizawa, K ;

Yoshizawa, T ;

Ishikawa, M ;

Yamawaki, T ;

Shoji, S ;

Mizusawa, H .

NEUROLOGY, 2000, 54 (10) :1971-1975

[5] Linkage analysis with multiplexed short tandem repeat polymorphisms using infrared fluorescence and M13 tailed primers [J].

Oetting, WS ;

Lee, HK ;

Flanders, DJ ;

Wiesner, GL ;

Sellers, TA ;

King, RA .

GENOMICS, 1995, 30 (03) :450-458

[6] A linkage disequilibrium at the candidate gene locus for 16q-linked autosomal dominant cerebellar ataxia type III in Japan [J].

Takashima, M ;

Ishikawa, K ;

Nagaoka, U ;

Shoji, S ;

Mizusawa, H .

JOURNAL OF HUMAN GENETICS, 2001, 46 (04) :167-171

[7]

Zühlke C, 1999, DNA SEQUENCE, V10, P1

← 1 →