Neuropsychiatric and cognitive features in autosomal‐recessive early parkinsonism due to PINK1 mutations

Autosomal‐recessive early‐onset Parkinsonism (AREP) due to PINK1 mutations is characterized by an early‐onset, slowly progressive disease, with a good response to levodopa. Psychiatric and cognitive disturbances associated with AREP have rarely been reported in the literature. We describe 2 brothers from a Jewish–Iraqi consanguineous family with a homozygous PINK1 nonsense mutation. Both patients presented with anxiety and dysphoria accompanied by a gait disturbance that developed subsequently into a clinical depression. During the course of the disease, both developed drug‐induced behavioral disturbances of the hedonistic homeostatic dysregulation type and 1 had drug‐induced psychosis. The first patient had been diagnosed with mild mental retardation and during the 22 years of disease had further deteriorated; the second developed frontal‐type dementia at an early age, 20 years after onset. Their father had a psychiatric disorder but no Parkinsonism. This report expands the phenotypic profile of PINK1 ‐related disease, presenting unique psychiatric and cognitive features as part of the clinical picture. © 2007 Movement Disorder Society