Diagnostic Tools for Parkinson's Disease

Realization of Diagnostic Tools for the Early Analysis of Parkinson's Disease Through the Identification of Genetic Risk Profiles

The study aims to identify genetic variants associated to Parkinson's disease through the analysis of exome-sequencing data of familial cases and controls. The identified variants will be used to generate a diagnostic tool for the identification of genetic risk profiles.

1. Clinical evaluation of PD patients and relatives
2. High throughput analysis of genetic variants in genome exomes
3. Genotype-phenotype association testing
4. Identification of genetic risk variants for PD

Inclusion Criteria:

• Presence of at least two out the following cardinal signs: resting tremor, cogwheel rigidity, bradykinesia, asymmetrical onset of symptoms and symptomatic response to L-dopa (levodopa)

Exclusion Criteria:

• Previous thalamotomy on the implanted sided, significant brain atrophy or structural damage seen on CT or MRI, marked cognitive dysfunction, active psychiatric symptoms, or concurrent neurological or other uncontrolled medical disorders.