Clinical and genetic studies on familial parkinsonism: The first report on a parkin gene mutation in a Taiwanese family

Ching Song Lu, Laura Wu, C. H. Tsai, R. S. Chen, Y. H. Wu Chou, N. Hattori, H. Yoshino, Y. Mizuno

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

In summary, we reported clinical as well as genetic studies on autosomal recessive and autosomal dominant forms of young-onset familial parkinsonism. Clinical features in each group were essentially similar. In one out of three families with autosomal recessive inheritance, homozygous deletional mutation of exon 3 of the parkin gene was found. This is the first report on the presence of an exonic deletional mutation of parkin gene mutation among Taiwanese. Clinical as well as genetic implications of our observations are discussed.

Original languageEnglish (US)
Pages (from-to)164-166
Number of pages3
JournalMovement Disorders
Volume16
Issue number1
DOIs
StatePublished - Jan 2001
Externally publishedYes

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Parkinsonian Disorders
Mutation
Genes
Exons
Clinical Studies

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

Clinical and genetic studies on familial parkinsonism : The first report on a parkin gene mutation in a Taiwanese family. / Lu, Ching Song; Wu, Laura; Tsai, C. H.; Chen, R. S.; Wu Chou, Y. H.; Hattori, N.; Yoshino, H.; Mizuno, Y.

In: Movement Disorders, Vol. 16, No. 1, 01.2001, p. 164-166.

Research output: Contribution to journalArticle

Lu, Ching Song ; Wu, Laura ; Tsai, C. H. ; Chen, R. S. ; Wu Chou, Y. H. ; Hattori, N. ; Yoshino, H. ; Mizuno, Y. / Clinical and genetic studies on familial parkinsonism : The first report on a parkin gene mutation in a Taiwanese family. In: Movement Disorders. 2001 ; Vol. 16, No. 1. pp. 164-166.
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