The search for a physiologic marker of Machado-Joseph disease

J. R. Hotson, E. B. Langston, A. A. Louis, R. N. Rosenberg

Research output: Contribution to journalArticle

12 Scopus citations

Abstract

Machado-Joseph disease is a dominantly inherited, multisystem, degenerative disorder that lacks a proven genetic marker. Peripheral nerve conduction-refractory period, sensory evoked potentials, and quantified oculomotor recordings were studied in nine patients affected with this disease to look for a potential physiologic marker. Only the oculomotor measurements of saccade and smooth pursuit gain were consistently abnormal in all patients. Identical eye movement recordings in 12 asymptomatic individuals at risk for Machado-Joseph disease revealed findings typical of affected patients in only 1 individual. Quantified oculomotor studies may contribute to the early confirmation of the disease, primarily in individuals at risk with minor or equivocal neurologic signs.

Original languageEnglish (US)
Pages (from-to)112-116
Number of pages5
JournalNeurology
Volume37
Issue number1
DOIs
StatePublished - Jan 1987

ASJC Scopus subject areas

  • Clinical Neurology

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