Aug, 2000
Novel mutations, pseudo-dominant inheritance, and possible familial affects in patients with autosomal recessive juvenile parkinsonism
ANNALS OF NEUROLOGY
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- Volume
- 48
- Number
- 2
- First page
- 245
- Last page
- 250
- Language
- English
- Publishing type
- Research paper (scientific journal)
- Publisher
- LIPPINCOTT WILLIAMS & WILKINS
Autosomal recessive juvenile parkinsonism is a hereditary neurodegenerative disorder, usually beginning before the age of 40. We found three exonic deletions and two novel point mutations (Arg33Stop and Cys431Phe) in six families with autosomal recessive juvenile parkinsonism. In 1 family, in which an autosomal dominant mode of inheritance was suspected, multiple mutant alleles were identified. Although a wide range of ages at onset was observed, there was no correlation between age at onset and genotype.
- Link information
- ID information
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- ISSN : 0364-5134
- Web of Science ID : WOS:000088564700015