Novel OPA1 mutation featuring spastic paraparesis and intestinal dysmotility

Mohamed Kazamel; Lee Jun Wong; Margherita Milone

doi:10.1016/j.ymgmr.2014.09.006

Novel OPA1 mutation featuring spastic paraparesis and intestinal dysmotility

Mohamed Kazamel, Lee Jun Wong, Margherita Milone

Neurology

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

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.

Original language	English (US)
Pages (from-to)	443-445
Number of pages	3
Journal	Molecular Genetics and Metabolism Reports
Volume	1
DOIs	https://doi.org/10.1016/j.ymgmr.2014.09.006
State	Published - 2014

Keywords

DOA
Intestinal dysmotility
OPA1
Optic atrophy
Peripheral neuropathy
Spastic paraparesis

ASJC Scopus subject areas

Molecular Biology
Genetics
Endocrinology

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10.1016/j.ymgmr.2014.09.006

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title = "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.",

keywords = "DOA, Intestinal dysmotility, OPA1, Optic atrophy, Peripheral neuropathy, Spastic paraparesis",

author = "Mohamed Kazamel and Wong, {Lee Jun} and Margherita Milone",

note = "Publisher Copyright: {\textcopyright} 2014 The Authors. Published by Elsevier Inc.",

year = "2014",

doi = "10.1016/j.ymgmr.2014.09.006",

language = "English (US)",

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journal = "Molecular Genetics and Metabolism Reports",

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T1 - Novel OPA1 mutation featuring spastic paraparesis and intestinal dysmotility

AU - Kazamel, Mohamed

AU - Wong, Lee Jun

AU - Milone, Margherita

PY - 2014

Y1 - 2014

N2 - 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.

AB - 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.

KW - DOA

KW - Intestinal dysmotility

KW - OPA1

KW - Optic atrophy

KW - Peripheral neuropathy

KW - Spastic paraparesis

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DO - 10.1016/j.ymgmr.2014.09.006

M3 - Article

AN - SCOPUS:84916604459

SN - 2214-4269

VL - 1

SP - 443

EP - 445

JO - Molecular Genetics and Metabolism Reports

JF - Molecular Genetics and Metabolism Reports

ER -

Novel OPA1 mutation featuring spastic paraparesis and intestinal dysmotility

Abstract

Keywords

ASJC Scopus subject areas

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