Shabnam Salehi-Rad

TL;DR: Results suggest that PINK1 reduces the basal neuronal pro-apoptotic activity and protects neurons from staurosporine-induced apoptosis, and loss of this protective function may underlie the degeneration of nigral dopaminergic neurons in patients with Pink1 mutations.

TL;DR: Autosomal recessive mutations in PINK1 are a rare cause of young-onset Parkinson disease, including the first reported compound heterozygous mutation (Glu240Lys and Leu489Pro) and a homozygous Leu347Pro mutation in 2 unrelated young-ONSET Parkinson disease patients.

TL;DR: The results support the prior suggestion that LRRK2 mutations cause PD and the possibility of a modest risk effect remains to be assessed in large datasets.

TL;DR: The results demonstrate a marginally significant association of GBA mutations with PD and suggest that variations in the GBA gene may constitute a rare susceptibility factor for PD.

TL;DR: Screening for mutations in this gene in a large series of FTD families and individual patients led to the identification of a protein-truncating mutation in 2 unaffected members of an Afrikaner family with FTD, but not in their affected relatives.