A Greek‐American kindred with autosomal dominant, levodopa‐responsive parkinsonism and anticipation

K. Markopoulou, Z. K. Wszolek, R. F. Pfeiffer

Research output: Contribution to journalArticle

91 Scopus citations

Abstract

Interest is increasing concerning the role of genetic factors in the etiology of Parkinson's disease. We report the analysis of a Greek‐American kindred with levodopa‐responsive parkinsonism. Of the 98 individuals present in six generations of this pedigree, 16 individuals in three successive generations have developed parkinsonism. Affected members were examined both in Greece and in the United States. The clinical presentation consisted of asymmetric rigidity, resting tremor, bradykinesia, and postural instability, and symptoms were responsive to levodopa. The disease appears to be inherited in an autosomal dominant manner. The inheritance pattern and the development of parkinsonism in successive generations on two continents challenges environmental factors as the primary cause in the pathogenesis of parkinsonism in this kindred. Anticipation is present in this pedigree. The affected members in the third generation developed symptoms at ages 50 to 71, in the fourth at ages 40 to 55, and in the fifth at age 31 years. This is another example of a neurodegenerative disease with autosomal dominant inheritance and anticipation. A molecular genetic analysis of this pedigree is in progress.

Original languageEnglish (US)
Pages (from-to)373-378
Number of pages6
JournalAnnals of neurology
Volume38
Issue number3
DOIs
StatePublished - Sep 1995

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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