G51D α-synuclein mutation causes a novel parkinsonian-pyramidal syndrome.
Identifieur interne : 000715 ( PubMed/Curation ); précédent : 000714; suivant : 000716G51D α-synuclein mutation causes a novel parkinsonian-pyramidal syndrome.
Auteurs : Suzanne Lesage [France] ; Mathieu Anheim ; Franck Letournel ; Luc Bousset ; Aurélie Honoré ; Nelly Rozas ; Laura Pieri ; Karine Madiona ; Alexandra Dürr ; Ronald Melki ; Christophe Verny ; Alexis BriceSource :
- Annals of neurology [ 1531-8249 ] ; 2013.
Descripteurs français
- Wicri :
- geographic : France.
English descriptors
- KwdEn :
- Adult, Aged, Aged, 80 and over, Amyloid (metabolism), Amyloid (ultrastructure), Aspartic Acid (genetics), Blepharospasm (genetics), Blepharospasm (pathology), Caspase 3 (metabolism), DNA Mutational Analysis, Dose-Response Relationship, Drug, Family Health, Female, France, Globus Pallidus (pathology), Glycine (genetics), Humans, Male, Middle Aged, Mutation, Missense (genetics), Neuroblastoma (pathology), Neurofilament Proteins (metabolism), Parkinson Disease, Secondary (genetics), Parkinson Disease, Secondary (pathology), alpha-Synuclein (genetics).
- MESH :
- chemical , genetics : Aspartic Acid, Glycine, alpha-Synuclein.
- chemical , metabolism : Amyloid, Caspase 3, Neurofilament Proteins.
- chemical , ultrastructure : Amyloid.
- geographic : France.
- genetics : Blepharospasm, Mutation, Missense, Parkinson Disease, Secondary.
- pathology : Blepharospasm, Globus Pallidus, Neuroblastoma, Parkinson Disease, Secondary.
- Adult, Aged, Aged, 80 and over, DNA Mutational Analysis, Dose-Response Relationship, Drug, Family Health, Female, Humans, Male, Middle Aged.
Abstract
To date, 3 rare missense mutations in the SNCA (α-synuclein) gene and the more frequent duplications or triplications of the wild-type gene are known to cause a broad array of clinical and pathological symptoms in familial Parkinson disease (PD). Here, we describe a French family with a parkinsonian-pyramidal syndrome harboring a novel heterozygous SNCA mutation.
DOI: 10.1002/ana.23894
PubMed: 23526723
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Anheim</name></author><author><name sortKey="Letournel, Franck" sort="Letournel, Franck" uniqKey="Letournel F" first="Franck" last="Letournel">Franck Letournel</name></author><author><name sortKey="Bousset, Luc" sort="Bousset, Luc" uniqKey="Bousset L" first="Luc" last="Bousset">Luc Bousset</name></author><author><name sortKey="Honore, Aurelie" sort="Honore, Aurelie" uniqKey="Honore A" first="Aurélie" last="Honoré">Aurélie Honoré</name></author><author><name sortKey="Rozas, Nelly" sort="Rozas, Nelly" uniqKey="Rozas N" first="Nelly" last="Rozas">Nelly Rozas</name></author><author><name sortKey="Pieri, Laura" sort="Pieri, Laura" uniqKey="Pieri L" first="Laura" last="Pieri">Laura Pieri</name></author><author><name sortKey="Madiona, Karine" sort="Madiona, Karine" uniqKey="Madiona K" first="Karine" last="Madiona">Karine Madiona</name></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name></author><author><name sortKey="Melki, Ronald" sort="Melki, Ronald" uniqKey="Melki R" first="Ronald" last="Melki">Ronald Melki</name></author><author><name sortKey="Verny, Christophe" sort="Verny, Christophe" uniqKey="Verny C" first="Christophe" last="Verny">Christophe Verny</name></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2013">2013</date><idno type="RBID">pubmed:23526723</idno><idno type="pmid">23526723</idno><idno type="doi">10.1002/ana.23894</idno><idno type="wicri:Area/PubMed/Corpus">000748</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000748</idno><idno type="wicri:Area/PubMed/Curation">000715</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000715</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">G51D α-synuclein mutation causes a novel parkinsonian-pyramidal syndrome.</title><author><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name><affiliation wicri:level="3"><nlm:affiliation>Pierre and Marie Curie University-Paris 6, Research Center of the Institute for Brain and Spinal Cord, National Institute of Health and Medical Research, Paris.</nlm:affiliation><country>France</country><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName><wicri:orgArea>Pierre and Marie Curie University-Paris 6, Research Center of the Institute for Brain and Spinal Cord, National Institute of Health and Medical Research</wicri:orgArea></affiliation></author><author><name sortKey="Anheim, Mathieu" sort="Anheim, Mathieu" uniqKey="Anheim M" first="Mathieu" last="Anheim">Mathieu Anheim</name></author><author><name sortKey="Letournel, Franck" sort="Letournel, Franck" uniqKey="Letournel F" first="Franck" last="Letournel">Franck Letournel</name></author><author><name sortKey="Bousset, Luc" sort="Bousset, Luc" uniqKey="Bousset L" first="Luc" last="Bousset">Luc Bousset</name></author><author><name sortKey="Honore, Aurelie" sort="Honore, Aurelie" uniqKey="Honore A" first="Aurélie" last="Honoré">Aurélie Honoré</name></author><author><name sortKey="Rozas, Nelly" sort="Rozas, Nelly" uniqKey="Rozas N" first="Nelly" last="Rozas">Nelly Rozas</name></author><author><name sortKey="Pieri, Laura" sort="Pieri, Laura" uniqKey="Pieri L" first="Laura" last="Pieri">Laura Pieri</name></author><author><name sortKey="Madiona, Karine" sort="Madiona, Karine" uniqKey="Madiona K" first="Karine" last="Madiona">Karine Madiona</name></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name></author><author><name sortKey="Melki, Ronald" sort="Melki, Ronald" uniqKey="Melki R" first="Ronald" last="Melki">Ronald Melki</name></author><author><name sortKey="Verny, Christophe" sort="Verny, Christophe" uniqKey="Verny C" first="Christophe" last="Verny">Christophe Verny</name></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name></author></analytic><series><title level="j">Annals of neurology</title><idno type="eISSN">1531-8249</idno><imprint><date when="2013" type="published">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Amyloid (metabolism)</term><term>Amyloid (ultrastructure)</term><term>Aspartic Acid (genetics)</term><term>Blepharospasm (genetics)</term><term>Blepharospasm (pathology)</term><term>Caspase 3 (metabolism)</term><term>DNA Mutational Analysis</term><term>Dose-Response Relationship, Drug</term><term>Family Health</term><term>Female</term><term>France</term><term>Globus Pallidus (pathology)</term><term>Glycine (genetics)</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation, Missense (genetics)</term><term>Neuroblastoma (pathology)</term><term>Neurofilament Proteins (metabolism)</term><term>Parkinson Disease, Secondary (genetics)</term><term>Parkinson Disease, Secondary (pathology)</term><term>alpha-Synuclein (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Aspartic Acid</term><term>Glycine</term><term>alpha-Synuclein</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Amyloid</term><term>Caspase 3</term><term>Neurofilament Proteins</term></keywords><keywords scheme="MESH" type="chemical" qualifier="ultrastructure" xml:lang="en"><term>Amyloid</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>France</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Blepharospasm</term><term>Mutation, Missense</term><term>Parkinson Disease, Secondary</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Blepharospasm</term><term>Globus Pallidus</term><term>Neuroblastoma</term><term>Parkinson Disease, Secondary</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>DNA Mutational Analysis</term><term>Dose-Response Relationship, Drug</term><term>Family Health</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>France</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">To date, 3 rare missense mutations in the SNCA (α-synuclein) gene and the more frequent duplications or triplications of the wild-type gene are known to cause a broad array of clinical and pathological symptoms in familial Parkinson disease (PD). Here, we describe a French family with a parkinsonian-pyramidal syndrome harboring a novel heterozygous SNCA mutation.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">23526723</PMID><DateCreated><Year>2014</Year><Month>03</Month><Day>19</Day></DateCreated><DateCompleted><Year>2014</Year><Month>05</Month><Day>05</Day></DateCompleted><DateRevised><Year>2014</Year><Month>03</Month><Day>19</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8249</ISSN><JournalIssue CitedMedium="Internet"><Volume>73</Volume><Issue>4</Issue><PubDate><Year>2013</Year><Month>Apr</Month></PubDate></JournalIssue><Title>Annals of neurology</Title><ISOAbbreviation>Ann. Neurol.</ISOAbbreviation></Journal><ArticleTitle>G51D α-synuclein mutation causes a novel parkinsonian-pyramidal syndrome.</ArticleTitle><Pagination><MedlinePgn>459-71</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/ana.23894</ELocationID><Abstract><AbstractText Label="OBJECTIVE" NlmCategory="OBJECTIVE">To date, 3 rare missense mutations in the SNCA (α-synuclein) gene and the more frequent duplications or triplications of the wild-type gene are known to cause a broad array of clinical and pathological symptoms in familial Parkinson disease (PD). Here, we describe a French family with a parkinsonian-pyramidal syndrome harboring a novel heterozygous SNCA mutation.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">Whole exome sequencing of DNA from 3 patients in a 3-generation pedigree was used to identify a new PD-associated mutation in SNCA. Clinical and pathological features of the patients were analyzed. The cytotoxic effects of the mutant and wild-type proteins were assessed by analytical ultracentrifugation, thioflavin T binding, transmission electron microscopy, cell viability assay, and caspase-3 activation.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">We identified a novel SNCA G51D (c.152 G>A) mutation that cosegregated with the disease and was absent from controls. G51D was associated with an unusual PD phenotype characterized by early disease onset, moderate response to levodopa, rapid progression leading to loss of autonomy and death within a few years, marked pyramidal signs including bilateral extensor plantar reflexes, occasionally spasticity, and frequently psychiatric symptoms. Pathological lesions predominated in the basal ganglia and the pyramidal tracts and included fine, diffuse cytoplasmic inclusions containing phospho-α-synuclein in superficial layers of the cerebral cortex, including the entorhinal cortex. Functional studies showed that G51D α-synuclein oligomerizes more slowly and its fibrils are more toxic than those of the wild-type protein.</AbstractText><AbstractText Label="INTERPRETATION" NlmCategory="CONCLUSIONS">We have identified a novel SNCA G51D mutation that causes a form of PD with unusual clinical, neuropathological, and biochemical features.</AbstractText><CopyrightInformation>Copyright © 2013 American Neurological Association.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Lesage</LastName><ForeName>Suzanne</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Pierre and Marie Curie University-Paris 6, Research Center of the Institute for Brain and Spinal Cord, National Institute of Health and Medical Research, Paris.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Anheim</LastName><ForeName>Mathieu</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Letournel</LastName><ForeName>Franck</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Bousset</LastName><ForeName>Luc</ForeName><Initials>L</Initials></Author><Author ValidYN="Y"><LastName>Honoré</LastName><ForeName>Aurélie</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Rozas</LastName><ForeName>Nelly</ForeName><Initials>N</Initials></Author><Author ValidYN="Y"><LastName>Pieri</LastName><ForeName>Laura</ForeName><Initials>L</Initials></Author><Author ValidYN="Y"><LastName>Madiona</LastName><ForeName>Karine</ForeName><Initials>K</Initials></Author><Author ValidYN="Y"><LastName>Dürr</LastName><ForeName>Alexandra</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Melki</LastName><ForeName>Ronald</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>Verny</LastName><ForeName>Christophe</ForeName><Initials>C</Initials></Author><Author 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UI="Q000378" MajorTopicYN="N">metabolism</QualifierName><QualifierName UI="Q000648" MajorTopicYN="N">ultrastructure</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D001224" MajorTopicYN="N">Aspartic Acid</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D001764" MajorTopicYN="N">Blepharospasm</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000473" MajorTopicYN="N">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D053148" MajorTopicYN="N">Caspase 3</DescriptorName><QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D004252" MajorTopicYN="N">DNA Mutational Analysis</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D004305" MajorTopicYN="N">Dose-Response Relationship, Drug</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005192" MajorTopicYN="Y">Family Health</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005602" MajorTopicYN="N" Type="Geographic">France</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005917" MajorTopicYN="N">Globus Pallidus</DescriptorName><QualifierName UI="Q000473" MajorTopicYN="N">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005998" MajorTopicYN="N">Glycine</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008875" MajorTopicYN="N">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020125" MajorTopicYN="N">Mutation, 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