Genetics of Parkinson disease

La Revue de médecine interne
D BrassatA Brice


What is the role of genetic factors in the pathophysiology of idiopathic Parkinson's disease, one of the most frequent neurodegenerative disorders? In the past two years, identification of two genes and localization of a third one have supported the hypothesis that genetics factors are involved in idiopathic Parkinson's disease. We present arguments that support such hypothesis, and describe recent advances in genetic studies of idiopathic Parkinson's disease. The first gene identified on chromosome 4 encodes alpha-synuclein. It causes a rare form of autosomal dominant Parkinson's disease. A locus on the short arm of chromosome 2 was recently identified in families with autosomal dominant Parkinson's disease. More recently, the gene encoding Parkin (located on chromosome 6) has been described. It already appears to be an important locus for juvenile parkinsonism with autosomal recessive transmission. We now have to understand how mutations in these genes lead to selective degeneration of dopaminergic neurons, and to determine whether or not they participate in the genetic susceptibility of idiopathic Parkinson's disease.


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Mar 1, 1990·Annals of Neurology·L I GolbeR C Duvoisin
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Mar 21, 1998·Nature Genetics·T GasserR D Horstmann
Mar 20, 1998·Annals of Neurology·M FarrerT Lynch
Apr 29, 1998·Nature·R L Nussbaum
May 30, 1998·Proceedings of the National Academy of Sciences of the United States of America·M G SpillantiniM Goedert
Jul 14, 1998·Nature Medicine·E MezeyM J Brownstein

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