Co-occurrence of affective and schizophrenia spectrum disorders with PINK1 mutations.
OBJECTIVE
To investigate a possible association of mutations in the PTEN-induced putative kinase 1 (PINK1) gene with psychiatric disorders in a large family with monogenic parkinsonism.


METHODS
20 members of a family (4 homozygous, 11 heterozygous and 5 non-mutation carriers) were investigated for the presence of psychiatric disorders using the structured clinical interview for Diagnostic and Statistical Manual of Mental Disorders, 4th edition (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 (61%) of the 18 mutation carriers and in 1 (20%) of the 5 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 neuropsychiatric disease.
Steinlechner
Susanne
S
Department of Psychiatry and Psychotherapy, University of Lübeck, Ratzeburger Allee 160, D-23538 Lübeck, Germany.
Stahlberg
Jessica
J
Völkel
Birgit
B
Djarmati
Ana
A
Hagenah
Johann
J
Hiller
Anja
A
Hedrich
Katja
K
König
Inke
I
Klein
Christine
C
Lencer
Rebekka
R
D000328:Adult; D000368:Aged; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D019964:Mood Disorders / Q000235:genetics*; D009154:Mutation; D020734:Parkinsonian Disorders / Q000235:genetics / Q000523:psychology; D010375:Pedigree; D011494:Protein Kinases / Q000235:genetics*; D012559:Schizophrenia / Q000235:genetics*; D000099202:PTEN-Induced Putative Kinase
D011494:Protein Kinases; D000099202:PTEN-Induced Putative Kinase