We have expanded the collection of families and probands with Parkinson's disease. We performed mutation analysis in all probands in the genes coding for the alpha beta and gamma synuclein genes. We have identified a mutation in the ubiquitin C-terminal hydrolase gene in a family with inherited Parkinson's disease. We have also identified a deletion in the Parkin gene in a Greek family with early autosomal Parkinson's disease. Using immunohistochemistry we have demonstrated the presence of alpha synuclein inclusions in a number of neurodegenerative disorders, including DLBD, Amyotrophic lateral sclerosis and multiple systems atrophy. In the positional cloning of the Wolfram and EllisvanCreveld genes we have identified and characterized 4 genes within the critical region which are now subjected to mutation analysis in probands of these families.
