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Neuropsychiatric and cognitive features in autosomal‐recessive early parkinsonism due to PINK1 mutations
Author(s) -
Ephraty Lilach,
Porat Omer,
Israeli David,
Cohen Oren S.,
Tunkel Olga,
Yael Shinar,
Hatano Yasaku,
Hattori Nobutaka,
HassinBaer Sharon
Publication year - 2007
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.21319
Subject(s) - parkinsonism , psychosis , apathy , pink1 , psychiatry , anxiety , dementia , medicine , disease , psychology , movement disorders , depression (economics) , cognitive decline , pediatrics , cognition , parkinson's disease , parkin , economics , macroeconomics
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