Parkinson Disease
Conditions
Brief summary
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.
Detailed description
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
Interventions
None listed
Sponsors
Neuromed IRCCS
Study design
Observational model
FAMILY_BASED
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
30 Years to No maximum
Healthy volunteers
Yes
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Identification of genetic variants associated with Parkinson's disease | Two years | Analysis of exome sequencing data; annotation of genetic variants; selection of variants present in cases and absent in controls |
Countries
Italy
Outcome results
None listed