Molecular and clinical findings in a family with dentatorubral‐pallidoluysian atrophy

Nicholas Potter, Michael A. Meyer, Andrew W. Zimmerman, Michael L. Eisenstadt, Ilse J. Anderson

Research output: Contribution to journalArticle

46 Citations (Scopus)

Abstract

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 seizures, ataxia, dementia, choreiform movements, mental retardation, and psychiatric disease. Neuroradiologic findings in the index case revealed deep subcortical white matter changes on magnetic resonance imaging. Prior to referral, the family carried a diagnosis of Huntington's disease (HD). Subsequent direct molecular testing for HD failed to identify the HD expansion mutation in affected individuals. Molecular testing for DRPLA, however, demonstrated the presence of the recently characterized DRPLA expansion mutation in all affected individuals. The size of the expansion correlated with the age of onset of clinical symptoms. As DRPLA has rarely been reported in North American and European populations, the molecular confirmation of DRPLA in this family provides support for the hypothesis that DRPLA may not be as geographically restricted as once thought.

Original languageEnglish (US)
Pages (from-to)273-277
Number of pages5
JournalAnnals of Neurology
Volume37
Issue number2
DOIs
StatePublished - Jan 1 1995
Externally publishedYes

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Atrophy
Huntington Disease
Chorea
Mutation
Ataxia
Age of Onset
Intellectual Disability
Neurodegenerative Diseases
Psychiatry
Dementia
Seizures
Referral and Consultation
Magnetic Resonance Imaging
Population

All Science Journal Classification (ASJC) codes

  • Neurology
  • Clinical Neurology

Cite this

Molecular and clinical findings in a family with dentatorubral‐pallidoluysian atrophy. / Potter, Nicholas; Meyer, Michael A.; Zimmerman, Andrew W.; Eisenstadt, Michael L.; Anderson, Ilse J.

In: Annals of Neurology, Vol. 37, No. 2, 01.01.1995, p. 273-277.

Research output: Contribution to journalArticle

Potter, Nicholas ; Meyer, Michael A. ; Zimmerman, Andrew W. ; Eisenstadt, Michael L. ; Anderson, Ilse J. / Molecular and clinical findings in a family with dentatorubral‐pallidoluysian atrophy. In: Annals of Neurology. 1995 ; Vol. 37, No. 2. pp. 273-277.
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