Absence of Lewy pathology associated with PINK1 homozygous mutation

Mutations in the PTEN induced putative kinase 1 ( PINK1 ) gene represent the second most frequent cause of autosomal recessive familial Parkinson disease (PD) next to parkin . There have been 2 reports of patients with PINK1 mutations, showing various brain Lewy-related pathologies. We report a case with a homozygous PINK1 missense mutation (p.C388R) and no Lewy-related pathologies, in contrast to previous cases.