Spectrum of phenotypes and genotypes in Parkinson's disease.
The pathogenesis of Parkinsons disease (PD) is currently unknown. Environmental and genetic factors might contribute to the neurodegenerative process. Genetic mapping approaches in rare familial cases with autosomal recessive and autosomal dominant inheritance of PD suggest wide genetic heterogeneity of the disease. These gene loci in turn allow now a more specific clinical investigation of affected families to study the clinical heterogeneity of PD. The recent identification of mutations in three genes involved in protein degradation and aggregation in familial PD does now facilitate the deciphering of other genes involved in the pathogenesis of the disease.
Riess
Olaf
O
Department of Medical Genetics, University Tübingen, Calwerstrasse 7, 72074 Tübingen, Germany. olaf.riess@med.uni-tuebingen.de
Krüger
Rejko
R
Schulz
Jörg B
JB
D002874:Chromosome Mapping; D002875:Chromosomes / Q000235:genetics; D005838:Genotype; D006801:Humans; D008025:Ligases / Q000235:genetics; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics; D009703:Nucleoside-Phosphate Kinase / Q000235:genetics; D010300:Parkinson Disease / Q000235:genetics*; D010641:Phenotype; D051843:Synucleins; D044767:Ubiquitin-Protein Ligases
D009419:Nerve Tissue Proteins; D051843:Synucleins; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein; C019979:cytidylate kinase; D009703:Nucleoside-Phosphate Kinase; D008025:Ligases