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

Authors

  • Lilach Ephraty MD,

    1. Department of Neurology, The Sagol Neuroscience Center, Tel-Aviv University, Tel-Aviv, Israel
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  • Omer Porat MA,

    1. Parkinson's Disease and Movement Disorders Clinic, The Sagol Neuroscience Center, Tel-Aviv University, Tel-Aviv, Israel
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  • David Israeli MD,

    1. Department of Psychiatry, Chaim Sheba Medical Center, Tel-Aviv University, Tel-Aviv, Israel
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  • Oren S. Cohen MD,

    1. Department of Neurology, The Sagol Neuroscience Center, Tel-Aviv University, Tel-Aviv, Israel
    2. Parkinson's Disease and Movement Disorders Clinic, The Sagol Neuroscience Center, Tel-Aviv University, Tel-Aviv, Israel
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  • Olga Tunkel MD,

    1. Department of Neurology, The Sagol Neuroscience Center, Tel-Aviv University, Tel-Aviv, Israel
    2. Parkinson's Disease and Movement Disorders Clinic, The Sagol Neuroscience Center, Tel-Aviv University, Tel-Aviv, Israel
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  • Shinar Yael PhD,

    1. Department of Neurology, The Sagol Neuroscience Center, Tel-Aviv University, Tel-Aviv, Israel
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  • Yasaku Hatano MD,

    1. Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan
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  • Nobutaka Hattori MD,

    1. Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan
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  • Sharon Hassin-Baer MD

    Corresponding author
    1. Department of Neurology, The Sagol Neuroscience Center, Tel-Aviv University, Tel-Aviv, Israel
    2. Parkinson's Disease and Movement Disorders Clinic, The Sagol Neuroscience Center, Tel-Aviv University, Tel-Aviv, Israel
    • Department of Neurology and Parkinson's Disease and Movement Disorders Clinic, Sagol Neuroscience Center, Chaim Sheba Medical Center, Tel Hashomer, 52621, Israel
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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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