Neuropsychiatric and cognitive features in autosomal-recessive early parkinsonism due to PINK1 mutations.
Identifieur interne : 001A59 ( Ncbi/Curation ); précédent : 001A58; suivant : 001A60Neuropsychiatric and cognitive features in autosomal-recessive early parkinsonism due to PINK1 mutations.
Auteurs : Lilach Ephraty [Israël] ; Omer Porat ; David Israeli ; Oren S. Cohen ; Olga Tunkel ; Shinar Yael ; Yasaku Hatano ; Nobutaka Hattori ; Sharon Hassin-BaerSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.
English descriptors
- KwdEn :
- Adult, Cognition Disorders (complications), Cognition Disorders (diagnosis), Consanguinity, Early Diagnosis, Female, Humans, Male, Mental Disorders (complications), Mental Disorders (diagnosis), Mental Disorders (psychology), Neuropsychological Tests, Parkinsonian Disorders (complications), Parkinsonian Disorders (genetics), Pedigree, Point Mutation (genetics), Protein Kinases (genetics), Severity of Illness Index.
- MESH :
- chemical , genetics : Protein Kinases.
- complications : Cognition Disorders, Mental Disorders, Parkinsonian Disorders.
- diagnosis : Cognition Disorders, Mental Disorders.
- genetics : Parkinsonian Disorders, Point Mutation.
- psychology : Mental Disorders.
- Adult, Consanguinity, Early Diagnosis, Female, Humans, Male, Neuropsychological Tests, Pedigree, Severity of Illness Index.
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.
DOI: 10.1002/mds.21319
PubMed: 17260336
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Cohen</name></author><author><name sortKey="Tunkel, Olga" sort="Tunkel, Olga" uniqKey="Tunkel O" first="Olga" last="Tunkel">Olga Tunkel</name></author><author><name sortKey="Yael, Shinar" sort="Yael, Shinar" uniqKey="Yael S" first="Shinar" last="Yael">Shinar Yael</name></author><author><name sortKey="Hatano, Yasaku" sort="Hatano, Yasaku" uniqKey="Hatano Y" first="Yasaku" last="Hatano">Yasaku Hatano</name></author><author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name></author><author><name sortKey="Hassin Baer, Sharon" sort="Hassin Baer, Sharon" uniqKey="Hassin Baer S" first="Sharon" last="Hassin-Baer">Sharon Hassin-Baer</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2007">2007</date><idno type="doi">10.1002/mds.21319</idno><idno type="RBID">pubmed:17260336</idno><idno type="pmid">17260336</idno><idno type="wicri:Area/PubMed/Corpus">002880</idno><idno type="wicri:Area/PubMed/Curation">002880</idno><idno type="wicri:Area/PubMed/Checkpoint">002692</idno><idno type="wicri:Area/Ncbi/Merge">001A59</idno><idno type="wicri:Area/Ncbi/Curation">001A59</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Neuropsychiatric and cognitive features in autosomal-recessive early parkinsonism due to PINK1 mutations.</title><author><name sortKey="Ephraty, Lilach" sort="Ephraty, Lilach" uniqKey="Ephraty L" first="Lilach" last="Ephraty">Lilach Ephraty</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, The Sagol Neuroscience Center, Tel-Aviv University, Tel-Aviv, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Department of Neurology, The Sagol Neuroscience Center, Tel-Aviv University, Tel-Aviv</wicri:regionArea><wicri:noRegion>Tel-Aviv</wicri:noRegion></affiliation></author><author><name sortKey="Porat, Omer" sort="Porat, Omer" uniqKey="Porat O" first="Omer" last="Porat">Omer Porat</name></author><author><name sortKey="Israeli, David" sort="Israeli, David" uniqKey="Israeli D" first="David" last="Israeli">David Israeli</name></author><author><name sortKey="Cohen, Oren S" sort="Cohen, Oren S" uniqKey="Cohen O" first="Oren S" last="Cohen">Oren S. Cohen</name></author><author><name sortKey="Tunkel, Olga" sort="Tunkel, Olga" uniqKey="Tunkel O" first="Olga" last="Tunkel">Olga Tunkel</name></author><author><name sortKey="Yael, Shinar" sort="Yael, Shinar" uniqKey="Yael S" first="Shinar" last="Yael">Shinar Yael</name></author><author><name sortKey="Hatano, Yasaku" sort="Hatano, Yasaku" uniqKey="Hatano Y" first="Yasaku" last="Hatano">Yasaku Hatano</name></author><author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name></author><author><name sortKey="Hassin Baer, Sharon" sort="Hassin Baer, Sharon" uniqKey="Hassin Baer S" first="Sharon" last="Hassin-Baer">Sharon Hassin-Baer</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2007" type="published">2007</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Cognition Disorders (complications)</term><term>Cognition Disorders (diagnosis)</term><term>Consanguinity</term><term>Early Diagnosis</term><term>Female</term><term>Humans</term><term>Male</term><term>Mental Disorders (complications)</term><term>Mental Disorders (diagnosis)</term><term>Mental Disorders (psychology)</term><term>Neuropsychological Tests</term><term>Parkinsonian Disorders (complications)</term><term>Parkinsonian Disorders (genetics)</term><term>Pedigree</term><term>Point Mutation (genetics)</term><term>Protein Kinases (genetics)</term><term>Severity of Illness Index</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Protein Kinases</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Cognition Disorders</term><term>Mental Disorders</term><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Cognition Disorders</term><term>Mental Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinsonian Disorders</term><term>Point Mutation</term></keywords><keywords scheme="MESH" qualifier="psychology" xml:lang="en"><term>Mental Disorders</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Consanguinity</term><term>Early Diagnosis</term><term>Female</term><term>Humans</term><term>Male</term><term>Neuropsychological Tests</term><term>Pedigree</term><term>Severity of Illness Index</term></keywords></textClass></profileDesc></teiHeader><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.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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