The p.S77N presenilin-associated rhomboid-like protein mutation is not a frequent cause of early-onset Parkinson's disease.

摘要

Parkinson's Disease (PD) is the second most common neurodegenerative disorder, characterized by the loss of dopa-minergic neurons in the substantia nigra pars compacta. A clinical syndrome closely resembling "idiopathic" PD has been reported for recessively inherited Parkin and PTEN-induced putative kinase 1 (PINK1) mutations, suggesting that pathways uncovered in these monogenic forms of parkinsonism may play a direct role in the etiology of the common sporadic disorder. Involvement of mitochondria in the selective loss of dopaminer-gic neurons has been postulated for many years, and a growing body of evidence implicates mitochondrial dysfunction as the primary event sufficient to cause PD.