Genetic diseases parkin gene

Abbas, N., Lucking, C. B., Ricard, S., Durr, A., Bonifati, V., et al. 1999. A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson s Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson s Disease. Hum Mol Genet 8 567-74. 

Several studies have identified a genetic link in cases of familial Parkinson s disease, in a number of different families (77-85). A genetic mutation in the Parkin gene is responsible for the onset of disease in these families, with the typical degeneration of the substantia nigra and occurrence of Lewy bodies. In individuals with Parkinson s disease due to this genetic mutation, the average age of onset is between 35 and 40 years old (reviewed in Ref. 86). 

Leroy E, Anastasopoulos D, Konitsiotis S, Lavedan C, Polymeropoulos M. Deletions in the Parkin gene and genetic heterogeneity in a Greek family with early onset Parkinson s disease. Hum Genet 1998 103 424-427. 

Autere JM, Hiltunen MJ, Mannermaa AJ, Jakala PA, Hartikainen PH, Majamaa K, Alafuzoff I, Soininen HS (2002) Molecular genetic analysis of the alpha-synuclein and the parkin gene in Parkinson s disease in Finland. Eur J Neurol 9 479 83. 

Idiopathic Parkinson s disease occurs due to degeneration of dopamine neurons with no obvious cause. There may be a genetic susceptibility, but no causal gene has been found, although mutation of the so-called Parkin gene is associated with early-onset Parkinsonism (under 50 years). 

Shimuea, H., et al., Eamilial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase. Nat Genet, 2000, 25(3),... 

Sherman, M. Y., Goldberg, A. L. 2001. Cellular defenses against unfolded proteins a cell biologist thinks about neurodegenerative diseases. Neuron 29 15-32. Shimura, H., Hattori, N., Kubo, S., Mizuno, Y., Asakawa, S., et al. 2000. Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase. Nat Genet 25 302-5. 

Pankratz N, Nichols WC, Uniacke SK, Halter C, Rudolph A, Shults C, Conneally PM, Eoroud T (2002) Genome screen to identify susceptibility genes for Parkinson disease in a sample without parkin mutations. Am J Hum Genet 71 124—135. 

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