title: Neuropsychiatric and cognitive features in autosomal-recessive early parkinsonism due to PINK1 mutations.
abstract: 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.
authors.affiliation: Department of Neurology, The Sagol Neuroscience Center, Tel-Aviv University, Tel-Aviv, Israel.
authors.forename: Lilach
authors.initials: L
authors.lastname: Ephraty
authors.forename: Omer
authors.initials: O
authors.lastname: Porat
authors.forename: David
authors.initials: D
authors.lastname: Israeli
authors.forename: Oren S
authors.initials: OS
authors.lastname: Cohen
authors.forename: Olga
authors.initials: O
authors.lastname: Tunkel
authors.forename: Shinar
authors.initials: S
authors.lastname: Yael
authors.forename: Yasaku
authors.initials: Y
authors.lastname: Hatano
authors.forename: Nobutaka
authors.initials: N
authors.lastname: Hattori
authors.forename: Sharon
authors.initials: S
authors.lastname: Hassin-Baer
mesh_terms: D000328:Adult; D003072:Cognition Disorders / Q000150:complications* / Q000175:diagnosis*; D003241:Consanguinity; D042241:Early Diagnosis; D005260:Female; D006801:Humans; D008297:Male; D001523:Mental Disorders / Q000150:complications* / Q000175:diagnosis* / Q000523:psychology; D009483:Neuropsychological Tests; D020734:Parkinsonian Disorders / Q000150:complications* / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D011494:Protein Kinases / Q000235:genetics*; D012720:Severity of Illness Index; D000099202:PTEN-Induced Putative Kinase
chemical_list: D011494:Protein Kinases; D000099202:PTEN-Induced Putative Kinase