The search for a physiologic marker of Machado-Joseph disease.

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.

journal_name

Neurology

journal_title

Neurology

authors

Hotson JR,Langston EB,Louis AA,Rosenberg RN

doi

10.1212/wnl.37.1.112

subject

Has Abstract

pub_date

1987-01-01 00:00:00

pages

112-6

issue

1

eissn

0028-3878

issn

1526-632X

journal_volume

37

pub_type

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