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

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.