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Molecular and clinical findings in a family with dentatorubral‐pallidoluysian atrophy
Author(s) -
Potter Nicholas T.,
Meyer Michael A.,
Zimmerman Andrew W.,
Eisenstadt Michael L.,
Anderson Ilse J.
Publication year - 1995
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410370220
Subject(s) - dementia , atrophy , medicine , frontotemporal dementia , ataxia , disease , spinocerebellar ataxia , trinucleotide repeat expansion , psychology , pathology , psychiatry , genetics , biology , allele , gene
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.