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Funded Studies

Neuropathological tissue collection in LRRK2 Mutant carriers with and without PD

Neuropathological studies have been vital in Parkinson’s disease (PD) research. The gold-standard diagnosis of PD is confirmed at autopsy. In addition, information on key proteins and cellular processes involved in PD is obtained from autopsy neuropathological samples. Here, we form an international collaborative group committed to uniform collection, storage and processing of pathological tissues from people with PD who carry LRRK2 mutations. We further aim to collect pathological samples from LRRK2 mutation carriers without PD to better understand the biology of LRRK2 brains.

Project Description:
We aim to establish a uniform system of collection, storage and reporting of data on pathological material from LRRK2 mutation carriers and their family members with and without PD. For this, we created an international group, including groups from the United States, Canada, France, Norway and Israel. Through this grant, we will ask all participants enrolled in the LRRK2-consortium studies to donate their brain when time comes. The pathological centers will then process the data in a uniform matter including obtaining of a clinical diagnosis, histo-pathological tissue staining for known proteins which are associated with PD, Alzheimer’s and other causes of neurodegeneration and freezing samples of the brain for future research on the biology of PD in LRRK2 mutation carriers.



Relevance to Diagnosis/Treatment of Parkinson’s Disease:
Much of what we know today about the biology of PD is derived from pathological studies. Obtaining autopsies from LRRK2 mutation carriers with and without PD will allow researchers to further investigate which parts of the brain are more susceptible to LRRK2 mutations-related neurodegenration. By comparing those who are affected by PD with those who are not, basic scientists will be able to identify biological processes that may cause PD.

Anticipated Outcome:
By increasing the number of LRRK2 related PD autopsies researchers will learn more about the pathological changes in the mutation carriers who developed the disease, including a careful analysis of the areas in the brain that are affected and of proteins that accumulate in these parts of the brain. By collecting autopsies from family members without PD, scientists will be able to assess for early pathological processes in the brain that may happen prior to motor disease onset.


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