Two large Polish kindreds with levodopa-responsive Parkinsonism not linked to known Parkinsonian genes and loci

Purpose. We describe two newly discovered large Polish families with Parkinsonism, PL-Krakow 1 and PL-Krakow 2. Scope. As illustrated by case reports from two patients, the disease phenotype is similar to that seen in patients with idiopathic Parkinson's disease, and affected individuals show a positive response to levodopa therapy. Molecular genetic studies failed to demonstrate a single chromosomal haplotype that segregated with disease for any of the known loci for Parkinsonism. Conclusions. The study of large kindreds such as this provides opportunities to find new Parkinsonian loci and mutations. This knowledge will help to better our understanding of the basic mechanisms leading to the degeneration of vulnerable substantia nigra neurons and other susceptible brain structures.