Neuropsychiatric and cognitive features in autosomal-recessive early parkinsonism due to PINK1 mutations
Identifieur interne : 001741 ( PascalFrancis/Corpus ); précédent : 001740; suivant : 001742Neuropsychiatric and cognitive features in autosomal-recessive early parkinsonism due to PINK1 mutations
Auteurs : Lilach Ephraty ; Omer Porat ; David Israeli ; Oren S. Cohen ; Olga Tunkel ; Shinar Yael ; Yasaku Hatano ; Nobutaka Hattori ; Sharon Hassin-BaerSource :
- Movement disorders [ 0885-3185 ] ; 2007.
Descripteurs français
- Pascal (Inist)
English descriptors
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.
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Pour connaître la documentation sur le format Inist Standard.
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Format Inist (serveur)
NO : | PASCAL 07-0210961 INIST |
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ET : | Neuropsychiatric and cognitive features in autosomal-recessive early parkinsonism due to PINK1 mutations |
AU : | EPHRATY (Lilach); PORAT (Omer); ISRAELI (David); COHEN (Oren S.); TUNKEL (Olga); YAEL (Shinar); HATANO (Yasaku); HATTORI (Nobutaka); HASSIN-BAER (Sharon) |
AF : | Department of Neurology, The Sagol Neuroscience Center, Tel-Aviv University/Tel-Aviv/Israël (1 aut., 4 aut., 5 aut., 6 aut., 9 aut.); Parkinson's Disease and Movement Disorders Clinic, The Sagol Neuroscience Center, Tel-Aviv University/Tel-Aviv/Israël (2 aut., 4 aut., 5 aut., 9 aut.); Department of Psychiatry, Chaim Sheba Medical Center, Tel-Aviv University/Tel-Aviv/Israël (3 aut.); Department of Neurology, Juntendo University School of Medicine/Tokyo/Japon (7 aut., 8 aut.) |
DT : | Publication en série; Courte communication, note brève; Niveau analytique |
SO : | Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2007; Vol. 22; No. 4; Pp. 566-569; Bibl. 14 ref. |
LA : | Anglais |
EA : | 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. |
CC : | 002B17; 002B17G; 002B17H |
FD : | Système nerveux pathologie; Parkinsonisme; Mutation; Neuropsychiatrie |
ED : | Nervous system diseases; Parkinsonism; Mutation; Neuropsychiatry |
SD : | Sistema nervioso patología; Parkinson síndrome; Mutación; Neurosiquiatría |
LO : | INIST-20953.354000145702210200 |
ID : | 07-0210961 |
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Pascal:07-0210961Le document en format XML
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<s5>09</s5>
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<s5>10</s5>
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<s5>10</s5>
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<s5>10</s5>
</fC03>
<fN21><s1>141</s1>
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<fN82><s1>OTO</s1>
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<server><NO>PASCAL 07-0210961 INIST</NO>
<ET>Neuropsychiatric and cognitive features in autosomal-recessive early parkinsonism due to PINK1 mutations</ET>
<AU>EPHRATY (Lilach); PORAT (Omer); ISRAELI (David); COHEN (Oren S.); TUNKEL (Olga); YAEL (Shinar); HATANO (Yasaku); HATTORI (Nobutaka); HASSIN-BAER (Sharon)</AU>
<AF>Department of Neurology, The Sagol Neuroscience Center, Tel-Aviv University/Tel-Aviv/Israël (1 aut., 4 aut., 5 aut., 6 aut., 9 aut.); Parkinson's Disease and Movement Disorders Clinic, The Sagol Neuroscience Center, Tel-Aviv University/Tel-Aviv/Israël (2 aut., 4 aut., 5 aut., 9 aut.); Department of Psychiatry, Chaim Sheba Medical Center, Tel-Aviv University/Tel-Aviv/Israël (3 aut.); Department of Neurology, Juntendo University School of Medicine/Tokyo/Japon (7 aut., 8 aut.)</AF>
<DT>Publication en série; Courte communication, note brève; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2007; Vol. 22; No. 4; Pp. 566-569; Bibl. 14 ref.</SO>
<LA>Anglais</LA>
<EA>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.</EA>
<CC>002B17; 002B17G; 002B17H</CC>
<FD>Système nerveux pathologie; Parkinsonisme; Mutation; Neuropsychiatrie</FD>
<ED>Nervous system diseases; Parkinsonism; Mutation; Neuropsychiatry</ED>
<SD>Sistema nervioso patología; Parkinson síndrome; Mutación; Neurosiquiatría</SD>
<LO>INIST-20953.354000145702210200</LO>
<ID>07-0210961</ID>
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