title: NovelOPA1mutation 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 ofOPA1in 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 ofOPA1-associated disease.
authors.affiliation: Department of Neurology, Mayo Clinic, Rochester, MN 55902, USA.
authors.forename: Mohamed
authors.initials: M
authors.lastname: Kazamel
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
authors.forename: Lee-Jun
authors.initials: LJ
authors.lastname: Wong
authors.affiliation: Department of Neurology, Mayo Clinic, Rochester, MN 55902, USA.
authors.forename: Margherita
authors.initials: M
authors.lastname: Milone
keywords: DOA; Intestinal dysmotility; OPA1; Optic atrophy; Peripheral neuropathy; Spastic paraparesis