Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism.
Identifieur interne : 003016 ( Ncbi/Merge ); précédent : 003015; suivant : 003017Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism.
Auteurs : Arianna Guidubaldi [Italie] ; Carla Piano ; Filippo M. Santorelli ; Gabriella Silvestri ; Martina Petracca ; Alessandra Tessa ; Anna Rita BentivoglioSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2011.
English descriptors
- KwdEn :
- Adult, Antiparkinson Agents (therapeutic use), Female, Genome-Wide Association Study (methods), Humans, Levodopa (therapeutic use), Magnetic Resonance Imaging (methods), Mutation (genetics), Parkinson Disease (complications), Parkinson Disease (drug therapy), Parkinson Disease (genetics), Proteins (genetics), Spastic Paraplegia, Hereditary (etiology), Spastic Paraplegia, Hereditary (genetics).
- MESH :
- chemical , genetics : Proteins.
- chemical , therapeutic use : Antiparkinson Agents, Levodopa.
- complications : Parkinson Disease.
- drug therapy : Parkinson Disease.
- etiology : Spastic Paraplegia, Hereditary.
- genetics : Mutation, Parkinson Disease, Spastic Paraplegia, Hereditary.
- methods : Genome-Wide Association Study, Magnetic Resonance Imaging.
- Adult, Female, Humans.
Abstract
Autosomal recessive hereditary spastic paraplegia with thin corpus callosum is a neurodegenerative disorder characterized by spastic paraparesis, cognitive impairment, and peripheral neuropathy. The neuroradiologic hallmarks are thin corpus callosum and periventricular white matter changes. Mutations in the SPG11 gene have been identified to be a major cause of autosomal recessive hereditary spastic paraplegia with thin corpus callosum and recently also proven to be responsible for juvenile parkinsonism associated with spastic paraplegia.
DOI: 10.1002/mds.23552
PubMed: 21381113
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pubmed:21381113Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism.</title><author><name sortKey="Guidubaldi, Arianna" sort="Guidubaldi, Arianna" uniqKey="Guidubaldi A" first="Arianna" last="Guidubaldi">Arianna Guidubaldi</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurology, Università Cattolica del Sacro Cuore, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Piano, Carla" sort="Piano, Carla" uniqKey="Piano C" first="Carla" last="Piano">Carla Piano</name></author><author><name sortKey="Santorelli, Filippo M" sort="Santorelli, Filippo M" uniqKey="Santorelli F" first="Filippo M" last="Santorelli">Filippo M. Santorelli</name></author><author><name sortKey="Silvestri, Gabriella" sort="Silvestri, Gabriella" uniqKey="Silvestri G" first="Gabriella" last="Silvestri">Gabriella Silvestri</name></author><author><name sortKey="Petracca, Martina" sort="Petracca, Martina" uniqKey="Petracca M" first="Martina" last="Petracca">Martina Petracca</name></author><author><name sortKey="Tessa, Alessandra" sort="Tessa, Alessandra" uniqKey="Tessa A" first="Alessandra" last="Tessa">Alessandra Tessa</name></author><author><name sortKey="Bentivoglio, Anna Rita" sort="Bentivoglio, Anna Rita" uniqKey="Bentivoglio A" first="Anna Rita" last="Bentivoglio">Anna Rita Bentivoglio</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2011">2011</date><idno type="doi">10.1002/mds.23552</idno><idno type="RBID">pubmed:21381113</idno><idno type="pmid">21381113</idno><idno type="wicri:Area/PubMed/Corpus">001407</idno><idno type="wicri:Area/PubMed/Curation">001407</idno><idno type="wicri:Area/PubMed/Checkpoint">001203</idno><idno type="wicri:Area/Ncbi/Merge">003016</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism.</title><author><name sortKey="Guidubaldi, Arianna" sort="Guidubaldi, Arianna" uniqKey="Guidubaldi A" first="Arianna" last="Guidubaldi">Arianna Guidubaldi</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurology, Università Cattolica del Sacro Cuore, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Piano, Carla" sort="Piano, Carla" uniqKey="Piano C" first="Carla" last="Piano">Carla Piano</name></author><author><name sortKey="Santorelli, Filippo M" sort="Santorelli, Filippo M" uniqKey="Santorelli F" first="Filippo M" last="Santorelli">Filippo M. Santorelli</name></author><author><name sortKey="Silvestri, Gabriella" sort="Silvestri, Gabriella" uniqKey="Silvestri G" first="Gabriella" last="Silvestri">Gabriella Silvestri</name></author><author><name sortKey="Petracca, Martina" sort="Petracca, Martina" uniqKey="Petracca M" first="Martina" last="Petracca">Martina Petracca</name></author><author><name sortKey="Tessa, Alessandra" sort="Tessa, Alessandra" uniqKey="Tessa A" first="Alessandra" last="Tessa">Alessandra Tessa</name></author><author><name sortKey="Bentivoglio, Anna Rita" sort="Bentivoglio, Anna Rita" uniqKey="Bentivoglio A" first="Anna Rita" last="Bentivoglio">Anna Rita Bentivoglio</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2011" type="published">2011</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Antiparkinson Agents (therapeutic use)</term><term>Female</term><term>Genome-Wide Association Study (methods)</term><term>Humans</term><term>Levodopa (therapeutic use)</term><term>Magnetic Resonance Imaging (methods)</term><term>Mutation (genetics)</term><term>Parkinson Disease (complications)</term><term>Parkinson Disease (drug therapy)</term><term>Parkinson Disease (genetics)</term><term>Proteins (genetics)</term><term>Spastic Paraplegia, Hereditary (etiology)</term><term>Spastic Paraplegia, Hereditary (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Proteins</term></keywords><keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Antiparkinson Agents</term><term>Levodopa</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Spastic Paraplegia, Hereditary</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Mutation</term><term>Parkinson Disease</term><term>Spastic Paraplegia, Hereditary</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Genome-Wide Association Study</term><term>Magnetic Resonance Imaging</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Female</term><term>Humans</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Autosomal recessive hereditary spastic paraplegia with thin corpus callosum is a neurodegenerative disorder characterized by spastic paraparesis, cognitive impairment, and peripheral neuropathy. The neuroradiologic hallmarks are thin corpus callosum and periventricular white matter changes. Mutations in the SPG11 gene have been identified to be a major cause of autosomal recessive hereditary spastic paraplegia with thin corpus callosum and recently also proven to be responsible for juvenile parkinsonism associated with spastic paraplegia.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">21381113</PMID><DateCreated><Year>2011</Year><Month>04</Month><Day>04</Day></DateCreated><DateCompleted><Year>2011</Year><Month>07</Month><Day>29</Day></DateCompleted><DateRevised><Year>2014</Year><Month>03</Month><Day>19</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>26</Volume><Issue>3</Issue><PubDate><Year>2011</Year><Month>Feb</Month><Day>15</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism.</ArticleTitle><Pagination><MedlinePgn>553-6</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.23552</ELocationID><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Autosomal recessive hereditary spastic paraplegia with thin corpus callosum is a neurodegenerative disorder characterized by spastic paraparesis, cognitive impairment, and peripheral neuropathy. The neuroradiologic hallmarks are thin corpus callosum and periventricular white matter changes. Mutations in the SPG11 gene have been identified to be a major cause of autosomal recessive hereditary spastic paraplegia with thin corpus callosum and recently also proven to be responsible for juvenile parkinsonism associated with spastic paraplegia.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">We describe one Italian autosomal recessive hereditary spastic paraplegia with thin corpus callosum patient who unusually presented at onset, 16 years, with parkinsonism-like features, responsive to dopaminergic therapy. Then the clinical picture evolved and became more complex. A brain magnetic resonance imaging scan showed thin corpus callosum and hyperintense T(2)-weighted lesions in periventricular regions, and the (123)I-ioflupane single-photon emission coupled tomography was abnormal.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">Genetic analysis detected two novel mutations, a c.3664insT variant in compound heterozygosity with a c.6331insG mutation, in SPG11.</AbstractText><AbstractText Label="DISCUSSION" NlmCategory="CONCLUSIONS">This case confirms the high genetic and clinical heterogeneity associated with SPG11 mutations. It also offers further evidence that parkinsonism may initiate autosomal recessive hereditary spastic paraplegia with thin corpus callosum and that parkinsonian symptoms can have variable dopaminergic response in these patients.</AbstractText><CopyrightInformation>Copyright © 2011 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Guidubaldi</LastName><ForeName>Arianna</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Piano</LastName><ForeName>Carla</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Santorelli</LastName><ForeName>Filippo M</ForeName><Initials>FM</Initials></Author><Author ValidYN="Y"><LastName>Silvestri</LastName><ForeName>Gabriella</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Petracca</LastName><ForeName>Martina</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Tessa</LastName><ForeName>Alessandra</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Bentivoglio</LastName><ForeName>Anna Rita</ForeName><Initials>AR</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>GGP10121</GrantID><Agency>Telethon</Agency><Country>Italy</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2011</Year><Month>03</Month><Day>04</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D000978">Antiparkinson Agents</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D011506">Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C520412">SPG11 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>46627O600J</RegistryNumber><NameOfSubstance UI="D007980">Levodopa</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000978">Antiparkinson Agents</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000627">therapeutic use</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D055106">Genome-Wide Association Study</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000379">methods</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D007980">Levodopa</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000627">therapeutic use</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008279">Magnetic Resonance Imaging</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000379">methods</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009154">Mutation</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010300">Parkinson Disease</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000150">complications</QualifierName><QualifierName MajorTopicYN="N" UI="Q000188">drug therapy</QualifierName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D011506">Proteins</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D015419">Spastic Paraplegia, Hereditary</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000209">etiology</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2010</Year><Month>6</Month><Day>23</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2010</Year><Month>10</Month><Day>27</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2010</Year><Month>11</Month><Day>1</Day></PubMedPubDate><PubMedPubDate PubStatus="aheadofprint"><Year>2011</Year><Month>3</Month><Day>4</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2011</Year><Month>3</Month><Day>8</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2011</Year><Month>3</Month><Day>8</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2011</Year><Month>7</Month><Day>30</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.23552</ArticleId><ArticleId IdType="pubmed">21381113</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Italie</li></country><region><li>Latium</li></region><settlement><li>Rome</li></settlement></list><tree><noCountry><name sortKey="Bentivoglio, Anna Rita" sort="Bentivoglio, Anna Rita" uniqKey="Bentivoglio A" first="Anna Rita" last="Bentivoglio">Anna Rita Bentivoglio</name><name sortKey="Petracca, Martina" sort="Petracca, Martina" uniqKey="Petracca M" first="Martina" last="Petracca">Martina Petracca</name><name sortKey="Piano, Carla" sort="Piano, Carla" uniqKey="Piano C" first="Carla" last="Piano">Carla Piano</name><name sortKey="Santorelli, Filippo M" sort="Santorelli, Filippo M" uniqKey="Santorelli F" first="Filippo M" last="Santorelli">Filippo M. Santorelli</name><name sortKey="Silvestri, Gabriella" sort="Silvestri, Gabriella" uniqKey="Silvestri G" first="Gabriella" last="Silvestri">Gabriella Silvestri</name><name sortKey="Tessa, Alessandra" sort="Tessa, Alessandra" uniqKey="Tessa A" first="Alessandra" last="Tessa">Alessandra Tessa</name></noCountry><country name="Italie"><region name="Latium"><name sortKey="Guidubaldi, Arianna" sort="Guidubaldi, Arianna" uniqKey="Guidubaldi A" first="Arianna" last="Guidubaldi">Arianna Guidubaldi</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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