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

页码：1111 / 1113

页数：3

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