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.
English descriptors
- KwdEn :
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
Url:
DOI: 10.1002/mds.21319
Affiliations:
Links toward previous steps (curation, corpus...)
Links to Exploration step
ISTEX:703C0C12728CEA5665EE786827A5F5C2DF9622D2Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><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></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 Aer, Sharon" sort="Hassin Aer, Sharon" uniqKey="Hassin Aer S" first="Sharon" last="Hassin-Baer">Sharon Hassin-Baer</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:703C0C12728CEA5665EE786827A5F5C2DF9622D2</idno><date when="2007" year="2007">2007</date><idno type="doi">10.1002/mds.21319</idno><idno type="url">https://api.istex.fr/document/703C0C12728CEA5665EE786827A5F5C2DF9622D2/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">002E47</idno><idno type="wicri:Area/Istex/Curation">002E47</idno><idno type="wicri:Area/Istex/Checkpoint">001828</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" 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"><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><affiliation wicri:level="1"><country xml:lang="fr">Israël</country><wicri:regionArea>Parkinson's Disease and Movement Disorders Clinic, The Sagol Neuroscience Center, Tel‐Aviv University, Tel‐Aviv</wicri:regionArea><wicri:noRegion>Tel‐Aviv</wicri:noRegion></affiliation></author><author><name sortKey="Israeli, David" sort="Israeli, David" uniqKey="Israeli D" first="David" last="Israeli">David Israeli</name><affiliation wicri:level="1"><country xml:lang="fr">Israël</country><wicri:regionArea>Department of Psychiatry, Chaim Sheba Medical Center, Tel‐Aviv University, Tel‐Aviv</wicri:regionArea><wicri:noRegion>Tel‐Aviv</wicri:noRegion></affiliation></author><author><name sortKey="Cohen, Oren S" sort="Cohen, Oren S" uniqKey="Cohen O" first="Oren S." last="Cohen">Oren S. Cohen</name><affiliation wicri:level="1"><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><affiliation wicri:level="1"><country xml:lang="fr">Israël</country><wicri:regionArea>Parkinson's Disease and Movement Disorders Clinic, The Sagol Neuroscience Center, Tel‐Aviv University, Tel‐Aviv</wicri:regionArea><wicri:noRegion>Tel‐Aviv</wicri:noRegion></affiliation></author><author><name sortKey="Tunkel, Olga" sort="Tunkel, Olga" uniqKey="Tunkel O" first="Olga" last="Tunkel">Olga Tunkel</name><affiliation wicri:level="1"><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><affiliation wicri:level="1"><country xml:lang="fr">Israël</country><wicri:regionArea>Parkinson's Disease and Movement Disorders Clinic, The Sagol Neuroscience Center, Tel‐Aviv University, Tel‐Aviv</wicri:regionArea><wicri:noRegion>Tel‐Aviv</wicri:noRegion></affiliation></author><author><name sortKey="Yael, Shinar" sort="Yael, Shinar" uniqKey="Yael S" first="Shinar" last="Yael">Shinar Yael</name><affiliation wicri:level="1"><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="Hatano, Yasaku" sort="Hatano, Yasaku" uniqKey="Hatano Y" first="Yasaku" last="Hatano">Yasaku Hatano</name><affiliation wicri:level="3"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Juntendo University School of Medicine, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name><affiliation wicri:level="3"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Juntendo University School of Medicine, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Hassin Aer, Sharon" sort="Hassin Aer, Sharon" uniqKey="Hassin Aer S" first="Sharon" last="Hassin-Baer">Sharon Hassin-Baer</name><affiliation wicri:level="1"><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><affiliation wicri:level="1"><country xml:lang="fr">Israël</country><wicri:regionArea>Parkinson's Disease and Movement Disorders Clinic, The Sagol Neuroscience Center, Tel‐Aviv University, Tel‐Aviv</wicri:regionArea><wicri:noRegion>Tel‐Aviv</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2007-03-15">2007-03-15</date><biblScope unit="vol">22</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="566">566</biblScope><biblScope unit="page" to="569">569</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">703C0C12728CEA5665EE786827A5F5C2DF9622D2</idno><idno type="DOI">10.1002/mds.21319</idno><idno type="ArticleID">MDS21319</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>PINK1</term><term>Parkinsonism</term><term>cognitive</term><term>hereditary</term><term>neuropsychiatry</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></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. © 2007 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Israël</li><li>Japon</li></country><settlement><li>Tokyo</li></settlement></list><tree><country name="Israël"><noRegion><name sortKey="Ephraty, Lilach" sort="Ephraty, Lilach" uniqKey="Ephraty L" first="Lilach" last="Ephraty">Lilach Ephraty</name></noRegion><name sortKey="Cohen, Oren S" sort="Cohen, Oren S" uniqKey="Cohen O" first="Oren S." last="Cohen">Oren S. Cohen</name><name sortKey="Cohen, Oren S" sort="Cohen, Oren S" uniqKey="Cohen O" first="Oren S." last="Cohen">Oren S. Cohen</name><name sortKey="Hassin Aer, Sharon" sort="Hassin Aer, Sharon" uniqKey="Hassin Aer S" first="Sharon" last="Hassin-Baer">Sharon Hassin-Baer</name><name sortKey="Hassin Aer, Sharon" sort="Hassin Aer, Sharon" uniqKey="Hassin Aer S" first="Sharon" last="Hassin-Baer">Sharon Hassin-Baer</name><name sortKey="Israeli, David" sort="Israeli, David" uniqKey="Israeli D" first="David" last="Israeli">David Israeli</name><name sortKey="Porat, Omer" sort="Porat, Omer" uniqKey="Porat O" first="Omer" last="Porat">Omer Porat</name><name sortKey="Tunkel, Olga" sort="Tunkel, Olga" uniqKey="Tunkel O" first="Olga" last="Tunkel">Olga Tunkel</name><name sortKey="Tunkel, Olga" sort="Tunkel, Olga" uniqKey="Tunkel O" first="Olga" last="Tunkel">Olga Tunkel</name><name sortKey="Yael, Shinar" sort="Yael, Shinar" uniqKey="Yael S" first="Shinar" last="Yael">Shinar Yael</name></country><country name="Japon"><noRegion><name sortKey="Hatano, Yasaku" sort="Hatano, Yasaku" uniqKey="Hatano Y" first="Yasaku" last="Hatano">Yasaku Hatano</name></noRegion><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Istex/Checkpoint
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001828 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Istex/Checkpoint/biblio.hfd -nk 001828 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= Istex
|étape= Checkpoint
|type= RBID
|clé= ISTEX:703C0C12728CEA5665EE786827A5F5C2DF9622D2
|texte= Neuropsychiatric and cognitive features in autosomal‐recessive early parkinsonism due to PINK1 mutations
}}
| This area was generated with Dilib version V0.6.23. |  |