Novel OPA1 mutation featuring spastic paraparesis and intestinal dysmotility

Mohamed Kazamel, Lee Jun Wong, Margherita Milone

Research output: Contribution to journalArticle

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 languageEnglish (US)
Pages (from-to)443-445
Number of pages3
JournalMolecular Genetics and Metabolism Reports
Volume1
DOIs
StatePublished - 2014

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Keywords

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

ASJC Scopus subject areas

  • Endocrinology
  • Genetics
  • Molecular Biology

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