Objective: To investigate a possible association of mutations in the PINK1 gene with psychiatric disorders in a large family with monogenic parkinsonism.
Method: Twenty family members (four homozygous, eleven heterozygous and five non-mutation carriers) were investigated for the presence of psychiatric disorders using the Structured Clinical Interview for DSM-IV; information on three additional heterozygous mutation carriers was obtained according to the Family History Research Diagnostic Criteria.
Results: We found predominantly affective and schizophrenia spectrum disorders in 11 of the 18 (61%) mutation carriers and in one of five (20%) of the mutation-negative cases.
Conclusions: First, affective and psychotic symptoms may be part of the phenotypic spectrum or even the sole manifestation of PINK1 mutations. Second, patients with familial movement disorders associated with psychiatric conditions may serve as a valuable study population to explore (genetic) causes of neuro- psychiatric disease.
- PINK1 mutations
- bipolar disorders
- major depression
- parkinson's disease
- schizotypal personality disorder