Clinicogenetic study of PINK1mutations in autosomal recessive early-onset parkinsonism

The authors performed PINK1mutation analysis of 51 families with autosomal recessive Parkinson disease (ARPD). They found two novel PINK1mutations: one was a homozygous deletion (13516-18118del) and the other a homozygous missense mutation (C388R). Clinically, the patients with the deletion had dementia. Thus, early-onset PD with dementia may be considered PINK1-linked parkinsonism. Furthermore, patients with PINK1mutations form 8.9% of parkin- and DJ-1-negative ARPD families.