Neuropsychiatric and cognitive features in autosomal‐recessive early parkinsonism due to PINK1 mutations
Identifieur interne : 001828 ( Istex/Checkpoint ); précédent : 001827; suivant : 001829Neuropsychiatric and cognitive features in autosomal‐recessive early parkinsonism due to PINK1 mutations
Auteurs : Lilach Ephraty [Israël] ; Omer Porat [Israël] ; David Israeli [Israël] ; Oren S. Cohen [Israël] ; Olga Tunkel [Israël] ; Shinar Yael [Israël] ; Yasaku Hatano [Japon] ; Nobutaka Hattori [Japon] ; Sharon Hassin-Baer [Israël]Source :
- Movement Disorders [ 0885-3185 ] ; 2007-03-15.
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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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DOI: 10.1002/mds.21319
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ISTEX:703C0C12728CEA5665EE786827A5F5C2DF9622D2Le document en format XML
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<front><div type="abstract" xml:lang="en">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</div>
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