A new F-box protein 7 gene mutation causing typical Parkinson's disease.
Identifieur interne : 000332 ( PubMed/Curation ); précédent : 000331; suivant : 000333A 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.
Descripteurs français
- Wicri :
- geographic : Turquie.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : F-Box Proteins.
- geographic : Turkey.
- genetics : Parkinson Disease.
- physiopathology : Parkinson Disease.
- Aged, 80 and over, Consanguinity, Female, Humans, Male, Middle Aged, Mutation, Pedigree.
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="Drouet, Valerie" sort="Drouet, Valerie" uniqKey="Drouet V" first="Valérie" last="Drouet">Valérie Drouet</name>
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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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<country xml:lang="fr">France</country>
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<author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
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<term>Consanguinity</term>
<term>F-Box Proteins (genetics)</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation</term>
<term>Parkinson Disease (genetics)</term>
<term>Parkinson Disease (physiopathology)</term>
<term>Pedigree</term>
<term>Turkey</term>
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<term>Consanguinity</term>
<term>Female</term>
<term>Humans</term>
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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>
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<DateCreated><Year>2015</Year>
<Month>07</Month>
<Day>16</Day>
</DateCreated>
<DateCompleted><Year>2016</Year>
<Month>05</Month>
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<Month>07</Month>
<Day>16</Day>
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<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>
</AffiliationInfo>
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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>
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<Author ValidYN="Y"><LastName>Gurvit</LastName>
<ForeName>Hakan</ForeName>
<Initials>H</Initials>
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<AffiliationInfo><Affiliation>Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.</Affiliation>
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<AffiliationInfo><Affiliation>Inserm, U946, Paris, France; Université Paris Diderot, Institut Universitaire d'Hématologie, Paris, France.</Affiliation>
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<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>
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<AffiliationInfo><Affiliation>Fondation Jean Dausset, Centre d'Etude du Polymorphisme Humain (CEPH), Paris, France.</Affiliation>
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<ForeName>Nihan</ForeName>
<Initials>N</Initials>
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<AffiliationInfo><Affiliation>AP-HP, Hôpital de la Salpêtrière, Département de Génétique et Cytogénétique, F-75013, Paris, France.</Affiliation>
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<PubMedPubDate PubStatus="revised"><Year>2015</Year>
<Month>02</Month>
<Day>03</Day>
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<PubMedPubDate PubStatus="accepted"><Year>2015</Year>
<Month>03</Month>
<Day>23</Day>
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<ArticleId IdType="doi">10.1002/mds.26266</ArticleId>
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