CAG repeat expansion in an Italian family with spinocerebellar ataxia type 2 (SCA2): A clinical and genetic study

被引：12

作者：

Malandrini, A

Galli, L

Villanova, M

Palmeri, S

Parrotta, E

DeFalco, D

Cappelli, M

Grieco, GS

Renieri, A

Guazzi, G

机构：

[1] Univ Siena, Inst Neurol Sci, I-53100 Siena, Italy

[2] Univ Siena, UO Med Genet, Dept Mol Biol, I-53100 Siena, Italy

[3] Univ Siena, Inst Neuroradiol, I-53100 Siena, Italy

来源：

EUROPEAN NEUROLOGY | 1998年 / 40卷 / 03期

关键词：

SCA2; clinical phenotype; CAG repeat;

D O I：

10.1159/000007974

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We report an Italian family in which molecular genetic analysis showed expansion of CAG repeats indicative of the SCA2 genotype. This family confirms that ataxia, ophthalmoparesis and sensory peripheral neuropathy are the salient features of the SCA2 phenotype. In the present cases, early onset and mental deterioration were important additional findings. Nerve biopsy findings were compatible with a chronic axonopathy. We found a direct correlation between length of triplet expansion and severity of the clinical symptoms. Of particular interest is the late-onset phenotypical expression in a patient with 34 repeats.

引用

页码：164 / 168

页数：5

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