The goal of this study is to identify reliable markers of LRRK2 activity in human CSF.
Name: Lumbar Puncture
Description: Evaluate each assay performance for ability to detect LRRK2, its activity and/or the detection and activity of the pathways it impacts using a variety of different approaches (quantitative western blot, immunoassays and LC-MS).
Measure: Assay Evaluation Time: 1 yearCase-Control
There is one SNP
Evaluate each assay performance for ability to detect LRRK2, its activity and/or the detection and activity of the pathways it impacts using a variety of different approaches (quantitative western blot, immunoassays and LC-MS).. Non-manifesting LRRK2 mutation carriers Inclusion: Patients must have confirmed LRRK2 G2019S mutation Age 30 years or older at date of informed consent. --- G2019S ---
Diagnosis of dementia LRRK2 Parkinson Disease (PD) Participants: Inclusion: Patients must have confirmed LRRK2 G2019S mutation Patients must meet the MDS criteria for Parkinson's disease Disease duration: any Age 30 years or older at time of PD diagnosis. --- G2019S ---
Exclusion: Inability to provide informed consent Known GBA mutation carrier In the absence of prior genetic testing for LRRK2 G2019S mutations: Family history of Parkinson's disease is an exclusion criterion. --- G2019S ---
If genetic testing for LRRK2 G2019S has been performed and is negative, individuals with a family history of PD may be enrolled. --- G2019S ---
In the absence of prior genetic testing for LRRK2 G2019S mutations: Family history of Parkinson's disease is an exclusion criterion. --- G2019S ---
If genetic testing for LRRK2 G2019S mutations has been performed and is negative, individuals with a family history of PD may be enrolled. --- G2019S ---
Diagnosis of dementia Non-manifesting LRRK2 mutation carriers Inclusion: Patients must have confirmed LRRK2 G2019S mutation Age 30 years or older at date of informed consent. --- G2019S ---