Other forms of familial PD

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Parkinson Diseases Manual By Lianna Marie

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There are many families in which linkage analysis failed to show linkage to any one of the known loci that are associated with familial forms of PD. Such reports are increasing every year. According to our hands, we have analyzed 347 families for known PD-causing genes including non-Japanese families with either autosomal dominant or recessive inheritance. We found 116 families with parkin mutations, 8 families with PINK1 mutations, no DJ-1 mutation, 10 families with LRRK2 mutations, and 2 families with alpha-synuclein duplication. Overall mutation rate was 136 positive families out of 347 (39.2%). In another word, approximately 60% of familial patients with PD did not have known mutations. Mutual relationship among the familial PD causing proteins is an interesting and important subject to study. Identifying new genes for familial PD would give us important information on this topic. Such information would also give us important clues to investigate pathogenesis of sporadic PD.

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