A new F-box protein 7 gene mutation causing typical Parkinson's disease.
Identifieur interne : 004354 ( Ncbi/Merge ); précédent : 004353; suivant : 004355A new F-box protein 7 gene mutation causing typical Parkinson's disease.
Auteurs : Ebba Lohmann [Turquie] ; Anne-Sophie Coquel [France] ; Aurélie Honoré [France] ; Hakan Gurvit [Turquie] ; Hasmet Hanagasi [Turquie] ; Murat Emre [Turquie] ; Anne L. Leutenegger [France] ; Valérie Drouet [France] ; Mourad Sahbatou [France] ; Gamze Guven [Turquie] ; Nihan Erginel-Unaltuna [Turquie] ; Jean-Francois Deleuze [France] ; Suzanne Lesage [France] ; Alexis Brice [France]Source :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2015.
Abstract
Recessive mutations in the F-box protein 7 gene (FBXO7; PARK15) have been identified as a cause of the parkinsonian-pyramidal syndrome. Here, we report clinical and genetic findings in a Turkish family with novel FBXO7 mutations.
DOI: 10.1002/mds.26266
PubMed: 26010069
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<author><name sortKey="Erginel Unaltuna, Nihan" sort="Erginel Unaltuna, Nihan" uniqKey="Erginel Unaltuna N" first="Nihan" last="Erginel-Unaltuna">Nihan Erginel-Unaltuna</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
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<front><div type="abstract" xml:lang="en">Recessive mutations in the F-box protein 7 gene (FBXO7; PARK15) have been identified as a cause of the parkinsonian-pyramidal syndrome. Here, we report clinical and genetic findings in a Turkish family with novel FBXO7 mutations.</div>
</front>
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<DateCreated><Year>2015</Year>
<Month>07</Month>
<Day>16</Day>
</DateCreated>
<Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>30</Volume>
<Issue>8</Issue>
<PubDate><Year>2015</Year>
<Month>Jul</Month>
</PubDate>
</JournalIssue>
<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
</Journal>
<ArticleTitle>A new F-box protein 7 gene mutation causing typical Parkinson's disease.</ArticleTitle>
<Pagination><MedlinePgn>1130-3</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.26266</ELocationID>
<Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Recessive mutations in the F-box protein 7 gene (FBXO7; PARK15) have been identified as a cause of the parkinsonian-pyramidal syndrome. Here, we report clinical and genetic findings in a Turkish family with novel FBXO7 mutations.</AbstractText>
<AbstractText Label="METHODS" NlmCategory="METHODS">Whole exome and targeted Sanger sequencing were performed for genetic analysis in a family with two members affected by Parkinson's disease (PD). All family members underwent detailed clinical, mental, and neurological examination.</AbstractText>
<AbstractText Label="RESULTS" NlmCategory="RESULTS">The new p.L34R (c.101 T>G) FBXO7 mutation was detected in a homozygous state in two Turkish sibs with typical levodopa-responsive PD.</AbstractText>
<AbstractText Label="CONCLUSION" NlmCategory="CONCLUSIONS">This is the first time a FBXO7 mutation has been identified that causes a phenotype compatible with typical idiopathic PD and presents with some of its common nonmotor features, such as rapid eye movement sleep behavior disorder, depression, and anxiety.</AbstractText>
<CopyrightInformation>© 2015 International Parkinson and Movement Disorder Society.</CopyrightInformation>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Lohmann</LastName>
<ForeName>Ebba</ForeName>
<Initials>E</Initials>
<AffiliationInfo><Affiliation>Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, and DZNE, German Center for Neurodegenerative Diseases, Tübingen, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Coquel</LastName>
<ForeName>Anne-Sophie</ForeName>
<Initials>AS</Initials>
<AffiliationInfo><Affiliation>Sorbonne Université, UPMC Univ Paris 06, UM 1127, ICM, Paris, France; Inserm, U 1127, ICM, Paris, France; Cnrs, UMR 7225, ICM, Paris, France; ICM, Paris, F-75013, Paris, France.</Affiliation>
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<Author ValidYN="Y"><LastName>Honoré</LastName>
<ForeName>Aurélie</ForeName>
<Initials>A</Initials>
<AffiliationInfo><Affiliation>Sorbonne Université, UPMC Univ Paris 06, UM 1127, ICM, Paris, France; Inserm, U 1127, ICM, Paris, France; Cnrs, UMR 7225, ICM, Paris, France; ICM, Paris, F-75013, Paris, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Gurvit</LastName>
<ForeName>Hakan</ForeName>
<Initials>H</Initials>
<AffiliationInfo><Affiliation>Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Hanagasi</LastName>
<ForeName>Hasmet</ForeName>
<Initials>H</Initials>
<AffiliationInfo><Affiliation>Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Emre</LastName>
<ForeName>Murat</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Leutenegger</LastName>
<ForeName>Anne L</ForeName>
<Initials>AL</Initials>
<AffiliationInfo><Affiliation>Inserm, U946, Paris, France; Université Paris Diderot, Institut Universitaire d'Hématologie, Paris, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Drouet</LastName>
<ForeName>Valérie</ForeName>
<Initials>V</Initials>
<AffiliationInfo><Affiliation>Sorbonne Université, UPMC Univ Paris 06, UM 1127, ICM, Paris, France; Inserm, U 1127, ICM, Paris, France; Cnrs, UMR 7225, ICM, Paris, France; ICM, Paris, F-75013, Paris, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Sahbatou</LastName>
<ForeName>Mourad</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>Fondation Jean Dausset, Centre d'Etude du Polymorphisme Humain (CEPH), Paris, France.</Affiliation>
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</Author>
<Author ValidYN="Y"><LastName>Guven</LastName>
<ForeName>Gamze</ForeName>
<Initials>G</Initials>
<AffiliationInfo><Affiliation>Institute for Experimental Medicine, Genetics Department, Istanbul University, Istanbul, Turkey.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Erginel-Unaltuna</LastName>
<ForeName>Nihan</ForeName>
<Initials>N</Initials>
<AffiliationInfo><Affiliation>Institute for Experimental Medicine, Genetics Department, Istanbul University, Istanbul, Turkey.</Affiliation>
</AffiliationInfo>
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<Author ValidYN="Y"><LastName>Deleuze</LastName>
<ForeName>Jean-Francois</ForeName>
<Initials>JF</Initials>
<AffiliationInfo><Affiliation>Commissariat à l'Energie Atomique, Institut de Génomique, Centre National de Génotypage, Evry, France.</Affiliation>
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<ForeName>Suzanne</ForeName>
<Initials>S</Initials>
<AffiliationInfo><Affiliation>Sorbonne Université, UPMC Univ Paris 06, UM 1127, ICM, Paris, France; Inserm, U 1127, ICM, Paris, France; Cnrs, UMR 7225, ICM, Paris, France; ICM, Paris, F-75013, Paris, France.</Affiliation>
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</Author>
<Author ValidYN="Y"><LastName>Brice</LastName>
<ForeName>Alexis</ForeName>
<Initials>A</Initials>
<AffiliationInfo><Affiliation>Sorbonne Université, UPMC Univ Paris 06, UM 1127, ICM, Paris, France; Inserm, U 1127, ICM, Paris, France; Cnrs, UMR 7225, ICM, Paris, France; ICM, Paris, F-75013, Paris, France.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>AP-HP, Hôpital de la Salpêtrière, Département de Génétique et Cytogénétique, F-75013, Paris, France.</Affiliation>
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<Language>eng</Language>
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<PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType>
</PublicationTypeList>
<ArticleDate DateType="Electronic"><Year>2015</Year>
<Month>05</Month>
<Day>23</Day>
</ArticleDate>
</Article>
<MedlineJournalInfo><Country>United States</Country>
<MedlineTA>Mov Disord</MedlineTA>
<NlmUniqueID>8610688</NlmUniqueID>
<ISSNLinking>0885-3185</ISSNLinking>
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<KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">FBXO7 gene</Keyword>
<Keyword MajorTopicYN="N">Parkinson disease</Keyword>
<Keyword MajorTopicYN="N">Turkey</Keyword>
<Keyword MajorTopicYN="N">autosomal-recessive</Keyword>
<Keyword MajorTopicYN="N">phenotype</Keyword>
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<PubmedData><History><PubMedPubDate PubStatus="received"><Year>2013</Year>
<Month>12</Month>
<Day>3</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="revised"><Year>2015</Year>
<Month>2</Month>
<Day>3</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="accepted"><Year>2015</Year>
<Month>3</Month>
<Day>23</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="aheadofprint"><Year>2015</Year>
<Month>5</Month>
<Day>23</Day>
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<Month>5</Month>
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<Hour>6</Hour>
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<PubMedPubDate PubStatus="medline"><Year>2015</Year>
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<PublicationStatus>ppublish</PublicationStatus>
<ArticleIdList><ArticleId IdType="pubmed">26010069</ArticleId>
<ArticleId IdType="doi">10.1002/mds.26266</ArticleId>
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<affiliations><list><country><li>France</li>
<li>Turquie</li>
</country>
<region><li>Île-de-France</li>
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<settlement><li>Paris</li>
<li>Évry (Essonne)</li>
</settlement>
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<name sortKey="Erginel Unaltuna, Nihan" sort="Erginel Unaltuna, Nihan" uniqKey="Erginel Unaltuna N" first="Nihan" last="Erginel-Unaltuna">Nihan Erginel-Unaltuna</name>
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<name sortKey="Guven, Gamze" sort="Guven, Gamze" uniqKey="Guven G" first="Gamze" last="Guven">Gamze Guven</name>
<name sortKey="Hanagasi, Hasmet" sort="Hanagasi, Hasmet" uniqKey="Hanagasi H" first="Hasmet" last="Hanagasi">Hasmet Hanagasi</name>
</country>
<country name="France"><region name="Île-de-France"><name sortKey="Coquel, Anne Sophie" sort="Coquel, Anne Sophie" uniqKey="Coquel A" first="Anne-Sophie" last="Coquel">Anne-Sophie Coquel</name>
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<name sortKey="Deleuze, Jean Francois" sort="Deleuze, Jean Francois" uniqKey="Deleuze J" first="Jean-Francois" last="Deleuze">Jean-Francois Deleuze</name>
<name sortKey="Drouet, Valerie" sort="Drouet, Valerie" uniqKey="Drouet V" first="Valérie" last="Drouet">Valérie Drouet</name>
<name sortKey="Honore, Aurelie" sort="Honore, Aurelie" uniqKey="Honore A" first="Aurélie" last="Honoré">Aurélie Honoré</name>
<name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name>
<name sortKey="Leutenegger, Anne L" sort="Leutenegger, Anne L" uniqKey="Leutenegger A" first="Anne L" last="Leutenegger">Anne L. Leutenegger</name>
<name sortKey="Sahbatou, Mourad" sort="Sahbatou, Mourad" uniqKey="Sahbatou M" first="Mourad" last="Sahbatou">Mourad Sahbatou</name>
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