Objective/Rationale:
The LRRK2 Consortium is designing studies to allow researchers to identify the key genetic, biological and clinical features of LRRK2 associated PD that could lead to improved treatment. For these efforts to be successful, families with LRRK2 mutations must complete a detailed study visit. To identify the features unique to PD patients with LRRK2 mutations, we will compare the findings from the LRRK2 PD subjects to those from a control group – which could consist of people without PD or of patients with PD who do not have a LRRK2 mutation.
Project Description:
We have previously recruited over 800 families having multiple members diagnosed with PD. About 5% of these families have a mutation in LRRK2. As part of this new proposal, we will be recruiting families from our previous studies that have a LRRK2 mutation. In addition, we will also recruit control families having multiple members with PD, but who do not have a LRRK2 mutation. All family members, both those with and those without PD, will be asked to complete a study visit that will evaluate symptoms of PD. We will also collect blood samples that can be used to develop improved treatment for PD.
Relevance to Diagnosis/Treatment of Parkinson’s Disease:
Currently, physicians can only treat the symptoms of PD as they appear. Few treatments are available that can slow the relentless progression of PD and no treatments can delay the onset of symptoms. This project will collect detailed data and biological samples from individuals with LRRK2 associated PD, those who inherited a LRRK2 mutation but do not have symptoms of PD, as well as individuals with PD but without a LRRK2 mutation. Comparisons among these groups will allow researchers to identify unique genetic, clinical and biological profiles that may allow more directed treatments focused on the underlying changes occurring in LRRK2 PD and perhaps more generally, in all PD patients.
Anticipated Outcome:
This study is focused on collecting the key data and samples that we hope will help researchers identify the mechanisms underlying LRRK2 associated PD and more generally, all causes of PD.