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Novel OPA1 mutation featuring spastic paraparesis and intestinal dysmotility.

ABSTRACT: 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.

SUBMITTER: Kazamel M

PROVIDER: S-EPMC5121360 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

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Novel OPA1 mutation featuring spastic paraparesis and intestinal dysmotility.

Kazamel Mohamed M Wong Lee-Jun LJ Milone Margherita M

Molecular genetics and metabolism reports 20141008

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. ...[more]

PMID: 27896119

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