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Sensory Ataxic Neuropathy as the Presenting Feature of a Novel Mitochondrial Disease by R. Fadic; J. A. Russell; V. V. Vedanarayanan; M. Lehar; R. W. Kuncl; D. R. Johns is a Medicine article available to read on EtoBox.

What is Sensory Ataxic Neuropathy as the Presenting Feature of a Novel Mitochondrial Disease about?

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 opthalmoparesis (SANDO) may represent a novel mitochondrial disease associated with multiple mitochondrial DNA deletions.

Who reads Sensory Ataxic Neuropathy as the Presenting Feature of a Novel Mitochondrial Disease?

Author

R. Fadic; J. A. Russell; V. V. Vedanarayanan; M. Lehar; R. W. Kuncl; D. R. Johns

Publisher

Ovid Technologies (Wolters Kluwer Health)

Published

1997

Language

EN

Field

Medicine (Health Sciences)