Significance

In the last few years genetic studies on idiopathic PD have contributed towards the elucidation of the onset mechanisms of the disease. However, little is known on the trigger factors for the development of PD. It is believed that the disease is the result of an interaction between a number of environmental factors to which the patient is exposed during his/her lifetime (toxins, drugs, lifestyle, etc.) and an inherited genetic susceptibility.

However, there are families in which inherited genes produce a strong predisposition to the disease. In these cases the disease can be triggered by minimal environmental exposure. The discovery of these genes and the possibility to study the coded protein has radically changed our understanding of the pathogenesis of the disease. This is essential for the development of new therapies and drugs.

In all molecular genetics studies the main problem is the collection of samples. It is often difficult to obtain the DNA of a number of patients with the desired characteristics (early onset <40 years, 1st degree family history, couples of affected siblings, etc…). Therefore, DNA banks are important for the preservation of the genome of patients, who have been assessed in depth by a number of investigations and followed-up in the long term. Therefore a large collection of DNA samples from PD and movement disorder patients may be very useful for: a) linkage studies; b) identification of new loci/genes; c) genotype-phenotype correlation studies. The value of this DNA Bank is given by its large size and by the detailed medical records corresponding to each single DNA sample. These two conditions are in fact essential for the success of any kind of genetic study.