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Neuropsychiatric and cognitive features in autosomal-recessive early parkinsonism due to PINK1 mutations

✍ Scribed by Lilach Ephraty; Omer Porat; David Israeli; Oren S. Cohen; Olga Tunkel; Shinar Yael; Yasaku Hatano; Nobutaka Hattori; Sharon Hassin-Baer

Publisher: John Wiley and Sons
Year: 2007
Tongue: English
Weight: 65 KB
Volume: 22
Category: Article
ISSN: 0885-3185
DOI: 10.1002/mds.21319

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✦ Synopsis

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. © 2007 Movement Disorder Society

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