Molecular and clinical findings in a family with dentatorubral-pallidoluysian atrophy.

doi:10.1002/ana.410370220

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Article

Molecular and clinical findings in a family with dentatorubral-pallidoluysian atrophy.

Annals of neurology - 1 Feb 1995

Potter N T, Meyer M A, Zimmerman A W, Eisenstadt M L, Anderson I J

Abstract excerpt

Herein we describe the molecular and clinical findings in a North American Caucasian family with dentatorubral-pallidoluysian atrophy (DRPLA). These patients all presented with an autosomal dominant neurodegenerative disorder characterized by a variable combination of clinical symptoms including...

Topics

Adolescent
Adult
Athetosis
Chorea
Epilepsies, Myoclonic
Female
Humans
Magnetic Resonance Imaging
Male
Middle Aged
Mutation
Pedigree
Syndrome

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