Sensory ataxic neuropathy as the presenting feature of a novel mitochondrial disease

Fadic, R; Russell, JA; Vedanarayanan, VV; Lehar, M; Kuncl, RW; Johns, DR

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.

Más información

Título según WOS: ID WOS:A1997XK35300036 Not found in local WOS DB
Título de la Revista: Neurology
Volumen: 49
Número: 1
Editorial: LIPPINCOTT WILLIAMS & WILKINS
Fecha de publicación: 1997
Página de inicio: 239
Página final: 245
DOI:

10.1212/WNL.49.1.239

Notas: ISI