title: Sensory ataxic neuropathy as the presenting feature of a novel mitochondrial disease.
abstract: Four unrelated patients presented with a severe sensory ataxic neuropathy in association with dysarthria and chronic progressive external ophthalmoplegia. Electrophysiologic and pathologic studies showed severe axonal loss disproportionately affecting sensory nerves. Molecular genetic analysis revealed multiple mitochondrial DNA deletions in muscle and peripheral nerve. Sensory ataxic neuropathy may be the predominant and presenting manifestation of a mitochondrial disorder, and a mitochondrial etiology should be included in its differential diagnosis. The triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO) may represent a novel mitochondrial disease associated with multiple mitochondrial DNA deletions.
authors.affiliation: Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA.
authors.forename: R
authors.initials: R
authors.lastname: Fadic
authors.forename: J A
authors.initials: JA
authors.lastname: Russell
authors.forename: V V
authors.initials: VV
authors.lastname: Vedanarayanan
authors.forename: M
authors.initials: M
authors.lastname: Lehar
authors.forename: R W
authors.initials: RW
authors.lastname: Kuncl
authors.forename: D R
authors.initials: DR
authors.lastname: Johns
mesh_terms: D000328:Adult; D001483:Base Sequence; D004272:DNA, Mitochondrial / Q000648:ultrastructure*; D004401:Dysarthria / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D017240:Mitochondrial Myopathies / Q000473:pathology*; D008969:Molecular Sequence Data; D009886:Ophthalmoplegia / Q000235:genetics* / Q000503:physiopathology
chemical_list: D004272:DNA, Mitochondrial