We are examining a Symptoms & Side Effects family members of LRRK2-PD patients looking for clinical features indicating differences between mutation carriers and non-carriers. Changes in metabolic patterns in blood and spinal fluid between LRRK2 patients and a Symptoms & Side Effects family members may help us find the crucial biochemical abnormality in brain which starts the disease. Furthermore, this may be used as a marker for PD and other neurodegenerative diseases to predict the disease progression.
Mutations in the LRRK2 gene are the most common known genetic cause of PD. In Central Norway where Trondheim is major city we have more than 100 LRRK2 mutation carriers, some are affected and many are still unaffected, healthy persons. These family members have been invited to participate in study where we will the differences between those who develop PD early in life and those who never get affected. This may be due to environmental factor or to metabolic causes. Therefore, these family members will come to a standardized interview focused on exposures to toxins and environmental risk factors. They are also willing to participate in a number of clinical examinations which include blood and urine samples, lumbar punctures, brain MRI scans, skin biopsies for developing stem cells, and some will also be sent for brain PET scanning.
Relevance to Diagnosis/Treatment of Parkinson’s Disease:
Today there is no test for Parkinson’s disease. We know that most of our healthy LRRK2 mutation carriers one day will end up developing PD. By studying these healthy persons we will hopefully find important differences in critical biochemical processes that may be related to the disease generating process. That may be due to a gain or loss of some substances in the brain. If finding such an abnormal event it will allow us to start developing drugs that might slow down the progression of PD.
This project will probably show that PD starts many years before the patients develop tremor, stiffness of the body or any other symptoms. We expect to find critical biochemical differences between those who are close to developing disease and those who get the disease late in life. We also expect that the disease generating process in LRRK2 PD will share the same biochemical processes as in non-genetic types of PD or so-called sporadic PD.