Co-occurrence of affective and schizophrenia spectrum disorders with PINK1 mutations

Clinical Approach to Parkinson's Disease: Features, Diagnosis, and Principles of Management

“…PARK6 (gene PINK1, PTEN-induced putative kinase 1): It is characterized by early onset in most patients (mean age at onset in the 30s, ranging from childhood until the seventh decade of life), dystonia at onset or symptom symmetry in some cases, slow disease progression, excellent levodopa responsiveness, early peak-dose dyskinesias; hyperreflexia has been described; rare cases with very early onset display sleep benefit and diurnal fluctuations (Valente et al 2001(Valente et al , 2002Bonifati 2005;Ibáñez et al 2006;Leutenegger et al 2006). Psychiatric disturbances such as depression, anxiety, and psychosis are a frequent finding (Bonifati 2005;Ibáñez et al 2006;Steinlechner et al 2007). Lewy bodies are a recently described neuropathological finding (Samaranch et al 2010).…”

Are genetic and sporadic Parkinson's disease patients equally susceptible to develop dementia?

“…Heterozygous parkin, as well as PINK1 mutation carriers, often develop neuropsychiatric disturbances [28][29][30]. Susceptibility to psychiatric illnesses was also reported in asymptomatic parkin mutation carriers.…”

“…The susceptibility to psychiatric disturbances, as in the presence of heterozygous parkin mutations, has also been described in the context of PINK1 mutations [28][29][30]. Affective and schizophrenia spectrum disorders were reported in 61% of PINK1 mutation carriers and in 20% of mutation-negative cases in a large family with monogenic parkinsonism [29].…”

PINK1: pumps, paraesthesia, punding and psychosis

“…An evaluation of psychiatric disorders in a family with monogenic PINK1 associated parkinsonism reported affective and schizophrenia spectrum disorders in 61% (11 of 18 carriers), occurring in those homozygous and heterozygous for the mutation [7]. The patient we report has no prior history of depression or mania but has a family history of affective disorder.…”