Lay summary
PINK1 early-onset Parkinson's disease (PD) is a neurodegenerative disease that usually affects people under 40 when they inherit two faulty copies of the PINK1 gene. A particular faulty copy, called PINK1:L347P has caused PD as young as 12, is carried in Pacific populations (e.g. 1/16 Samoans), and to a lesser degree, in Māori. Studies indicate that people who carry a single faulty PINK1 copy may have increased risk of developing late-onset PD, but we don’t know if this is true for PINK1:L347P.
We invite participants with one or two copies of PINK1:L347 to determine their research roles. Involvement in deep clinical characterisation will provide data informing future treatment efficacy, and possible early detection and treatment; patient focus groups will report attitudes to current and potential treatment options; biosample donation can be used to investigate why some people are affected so young, for biomarker development, or preclinical studies into potential therapies.