We have identified a mutation in the human alpha synuclein gene which is responsible for some cases of familial Parkinson's disease. We have additionally identified human homologous genes which will be used in mutational analysis in families with autosomal dominant PD. We have constructed a BAC contig of the 4p16.1 region harboring the Ellis van Creveld and Wolfram disease genes, and have applied a genomic sample sequencing strategy for the identification of candidate genes and polymorphisms.