An autosomal dominant ataxia maps to 19q13:: Allelic heterogeneity of SCA13 or novel locus?

被引：26
|
作者：
Waters, MF
Fee, D
Figueroa, KP
Nolte, D
Müller, U
Advincula, J
Coon, H
Evidente, VG
Pulst, SM
机构：
[1] Cedars Sinai Med Ctr, Div Neurol, Los Angeles, CA 90048 USA
[2] Cedars Sinai Med Ctr, Rose Moss Lab Parkinsons & Neurodegenerat Dis, Burns & Allen Res Inst, Los Angeles, CA 90048 USA
[3] Univ Giessen, Inst Humangenet, D-35390 Giessen, Germany
[4] Western Visayas State Univ, Med Ctr, Iloilo, Philippines
[5] Univ Utah, Med Ctr, Salt Lake City, UT USA
[6] Mayo Clin Scottsdale, Scottsdale, AZ USA
[7] Univ Calif Los Angeles, David Geffen Sch Med, Dept Med, Los Angeles, CA USA
[8] Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurobiol, Los Angeles, CA USA
来源：
NEUROLOGY | 2005年 / 65卷 / 07期
关键词：
D O I：
10.1212/01.wnl.0000177490.05162.41
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
The autosomal dominant spinocerebellar ataxias (ADCAs) represent a growing and heterogeneous disease phenotype. Clinical characterization of a three-generation Filipino family segregating a dominant ataxia revealed cerebellar signs and symptoms. After elimination of known spinocerebellar ataxia (SCA) loci, a genome-wide linkage scan revealed a disease locus in a 4-cM region of 19q13, with a 3.89 lod score. This region overlaps and reduces the SCA13 locus. However, this ADCA is clinically distinguishable from SCA13.
引用
收藏
页码：1111 / 1113
页数：3
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