Novel OPA1 mutation featuring spastic paraparesis and intestinal dysmotility

被引：1

作者：

Kazamel, Mohamed ^{[1
]}

Wong, Lee-Jun ^{[2
]}

Milone, Margherita ^{[1
]}

机构：

[1] Mayo Clin, Dept Neurol, Rochester, MN 55902 USA

[2] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

来源：

MOLECULAR GENETICS AND METABOLISM REPORTS | 2014年 / 1卷

关键词：

DOA; Intestinal dysmotility; Peripheral neuropathy; OPA1; Optic atrophy; Spastic paraparesis;

D O I：

10.1016/j.ymgmr.2014.09.006

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A 58-year-old man with optic atrophy, spastic paraparesis, axonal sensorimotor peripheral neuropathy and intestinal dysmotility harbors a novel heterozygous missense mutation in the mitochondrial import signal peptide of OPA1. The case underscores the role of OPA1 in the pathogenesis of spastic paraparesis, so far reported only in very few cases, and it adds intestinal dysmotility to the spectrum of adult-onset clinical manifestation of OPA1-associated disease. (C) 2014 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND license

引用

页码：443 / 445

页数：3