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Sporadic case of dentatorubral pallidoluysian atrophy with no CAG repeat expansion and no intranuclear inclusions

✍ Scribed by Renato P. Munhoz; Catherine Bergeron; Anthony E. Lang

Publisher: John Wiley and Sons
Year: 2004
Tongue: English
Weight: 514 KB
Volume: 19
Category: Article
ISSN: 0885-3185
DOI: 10.1002/mds.10674

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✦ Synopsis

Abstract

We present a patient with a 14‐year course beginning at the age of 44 years with hemidystonia followed by generalized choreoathetosis, behavioral, and oculomotor disturbances. Family history and genetic testing were unrevealing. Neuropathological findings were identical to genetic dentatorubral pallidoluysian (DRPLA) except for the lack of intranuclear inclusions. © 2003 Movement Disorder Society

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✍ Alberto J. Espay; Catherine Bergeron; Robert Chen; Anthony E. Lang 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 215 KB

## Abstract A 48‐year‐old man developed progressive hemidystonia and postural impairment with falls, followed by choreoathetosis, hyporeflexia, ataxia, supranuclear vertical gaze palsy, and dementia, lasting only 3.5 years from symptom onset to death. Family history and genetic testing were unrevea