A novel hereditary spastic paraplegia with dystonia linked to chromosome 2q24-2q31.
Identifieur interne : 002435 ( Ncbi/Merge ); précédent : 002434; suivant : 002436A novel hereditary spastic paraplegia with dystonia linked to chromosome 2q24-2q31.
Auteurs : Donald L. Gilbert [États-Unis] ; Elizabeth J. Leslie ; Mehdi Keddache ; Nancy D. LeslieSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2009.
English descriptors
- KwdEn :
- Adolescent, Adult, Child, Chromosomes, Human, Pair 2 (genetics), DNA Primers (genetics), Dystonia (diagnosis), Dystonia (epidemiology), Dystonia (genetics), Female, Genetic Linkage, Genotype, Haplotypes, Humans, Male, Middle Aged, Neurologic Examination, Pedigree, Phenotype, Polymorphism, Single Nucleotide (genetics), Spastic Paraplegia, Hereditary (diagnosis), Spastic Paraplegia, Hereditary (epidemiology), Spastic Paraplegia, Hereditary (genetics), Trinucleotide Repeat Expansion (genetics), Videotape Recording, Young Adult.
- MESH :
- chemical , genetics : DNA Primers.
- diagnosis : Dystonia, Spastic Paraplegia, Hereditary.
- epidemiology : Dystonia, Spastic Paraplegia, Hereditary.
- genetics : Chromosomes, Human, Pair 2, Dystonia, Polymorphism, Single Nucleotide, Spastic Paraplegia, Hereditary, Trinucleotide Repeat Expansion.
- Adolescent, Adult, Child, Female, Genetic Linkage, Genotype, Haplotypes, Humans, Male, Middle Aged, Neurologic Examination, Pedigree, Phenotype, Videotape Recording, Young Adult.
Abstract
Spastic paraplegias (HSPs) and dystonias (DYTs) typically localize to different neuroanatomic systems. We report clinical and genetic data from large Ohio kindred with autosomal dominant (AD) HSP and DYT. Single and multipoint linkage using microsatellite and single nucleotide polymorphism array genotyping were performed on a large, multigenerational family with a novel, AD, highly penetrant neurological disease causing spasticity and DYT. Age of onset of spasticity and weakness is from the first year to the sixth decade, and age of onset of DYT from the first to third decade. There is no ataxia or apparent cognitive involvement. Neuroimaging and peripheral neurophysiology are normal. Generalized DYT improved markedly with deep brain stimulation in 1 child. The disease locus was mapped to a region on chromosome 2q 24-31, flanked by markers rs1424937-rs1559510, proximal to SPG13, in a region where there are no known HSP or DYT genes. A secondary analysis for candidate genes segregating with the DYT phenotype revealed two candidate regions with parametric lod scores above 2.0. On the basis of clinical presentation and linkage results, we conclude that this disease is a novel neurological disorder. Identifying the causative gene may elucidate an important pathway for pyramidal and extrapyramidal disorders.
DOI: 10.1002/mds.22363
PubMed: 19006192
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Gilbert</name><affiliation wicri:level="1"><nlm:affiliation>Division of Neurology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati School of Medicine, Cincinnati, Ohio 45229-3039, USA. d.gilbert@cchmc.org</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Neurology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati School of Medicine, Cincinnati, Ohio 45229-3039</wicri:regionArea><wicri:noRegion>Ohio 45229-3039</wicri:noRegion></affiliation></author><author><name sortKey="Leslie, Elizabeth J" sort="Leslie, Elizabeth J" uniqKey="Leslie E" first="Elizabeth J" last="Leslie">Elizabeth J. Leslie</name></author><author><name sortKey="Keddache, Mehdi" sort="Keddache, Mehdi" uniqKey="Keddache M" first="Mehdi" last="Keddache">Mehdi Keddache</name></author><author><name sortKey="Leslie, Nancy D" sort="Leslie, Nancy D" uniqKey="Leslie N" first="Nancy D" last="Leslie">Nancy D. Leslie</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2009">2009</date><idno type="doi">10.1002/mds.22363</idno><idno type="RBID">pubmed:19006192</idno><idno type="pmid">19006192</idno><idno type="wicri:Area/PubMed/Corpus">001F29</idno><idno type="wicri:Area/PubMed/Curation">001F29</idno><idno type="wicri:Area/PubMed/Checkpoint">001F78</idno><idno type="wicri:Area/Ncbi/Merge">002435</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">A novel hereditary spastic paraplegia with dystonia linked to chromosome 2q24-2q31.</title><author><name sortKey="Gilbert, Donald L" sort="Gilbert, Donald L" uniqKey="Gilbert D" first="Donald L" last="Gilbert">Donald L. Gilbert</name><affiliation wicri:level="1"><nlm:affiliation>Division of Neurology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati School of Medicine, Cincinnati, Ohio 45229-3039, USA. d.gilbert@cchmc.org</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Neurology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati School of Medicine, Cincinnati, Ohio 45229-3039</wicri:regionArea><wicri:noRegion>Ohio 45229-3039</wicri:noRegion></affiliation></author><author><name sortKey="Leslie, Elizabeth J" sort="Leslie, Elizabeth J" uniqKey="Leslie E" first="Elizabeth J" last="Leslie">Elizabeth J. Leslie</name></author><author><name sortKey="Keddache, Mehdi" sort="Keddache, Mehdi" uniqKey="Keddache M" first="Mehdi" last="Keddache">Mehdi Keddache</name></author><author><name sortKey="Leslie, Nancy D" sort="Leslie, Nancy D" uniqKey="Leslie N" first="Nancy D" last="Leslie">Nancy D. Leslie</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="2009" type="published">2009</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Child</term><term>Chromosomes, Human, Pair 2 (genetics)</term><term>DNA Primers (genetics)</term><term>Dystonia (diagnosis)</term><term>Dystonia (epidemiology)</term><term>Dystonia (genetics)</term><term>Female</term><term>Genetic Linkage</term><term>Genotype</term><term>Haplotypes</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Neurologic Examination</term><term>Pedigree</term><term>Phenotype</term><term>Polymorphism, Single Nucleotide (genetics)</term><term>Spastic Paraplegia, Hereditary (diagnosis)</term><term>Spastic Paraplegia, Hereditary (epidemiology)</term><term>Spastic Paraplegia, Hereditary (genetics)</term><term>Trinucleotide Repeat Expansion (genetics)</term><term>Videotape Recording</term><term>Young Adult</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA Primers</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Dystonia</term><term>Spastic Paraplegia, Hereditary</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Dystonia</term><term>Spastic Paraplegia, Hereditary</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosomes, Human, Pair 2</term><term>Dystonia</term><term>Polymorphism, Single Nucleotide</term><term>Spastic Paraplegia, Hereditary</term><term>Trinucleotide Repeat Expansion</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Child</term><term>Female</term><term>Genetic Linkage</term><term>Genotype</term><term>Haplotypes</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Neurologic Examination</term><term>Pedigree</term><term>Phenotype</term><term>Videotape Recording</term><term>Young Adult</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Spastic paraplegias (HSPs) and dystonias (DYTs) typically localize to different neuroanatomic systems. We report clinical and genetic data from large Ohio kindred with autosomal dominant (AD) HSP and DYT. Single and multipoint linkage using microsatellite and single nucleotide polymorphism array genotyping were performed on a large, multigenerational family with a novel, AD, highly penetrant neurological disease causing spasticity and DYT. Age of onset of spasticity and weakness is from the first year to the sixth decade, and age of onset of DYT from the first to third decade. There is no ataxia or apparent cognitive involvement. Neuroimaging and peripheral neurophysiology are normal. Generalized DYT improved markedly with deep brain stimulation in 1 child. The disease locus was mapped to a region on chromosome 2q 24-31, flanked by markers rs1424937-rs1559510, proximal to SPG13, in a region where there are no known HSP or DYT genes. A secondary analysis for candidate genes segregating with the DYT phenotype revealed two candidate regions with parametric lod scores above 2.0. On the basis of clinical presentation and linkage results, we conclude that this disease is a novel neurological disorder. Identifying the causative gene may elucidate an important pathway for pyramidal and extrapyramidal disorders.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">19006192</PMID><DateCreated><Year>2009</Year><Month>03</Month><Day>03</Day></DateCreated><DateCompleted><Year>2009</Year><Month>07</Month><Day>27</Day></DateCompleted><DateRevised><Year>2010</Year><Month>11</Month><Day>18</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>24</Volume><Issue>3</Issue><PubDate><Year>2009</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>A novel hereditary spastic paraplegia with dystonia linked to chromosome 2q24-2q31.</ArticleTitle><Pagination><MedlinePgn>364-70</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.22363</ELocationID><Abstract><AbstractText>Spastic paraplegias (HSPs) and dystonias (DYTs) typically localize to different neuroanatomic systems. We report clinical and genetic data from large Ohio kindred with autosomal dominant (AD) HSP and DYT. Single and multipoint linkage using microsatellite and single nucleotide polymorphism array genotyping were performed on a large, multigenerational family with a novel, AD, highly penetrant neurological disease causing spasticity and DYT. Age of onset of spasticity and weakness is from the first year to the sixth decade, and age of onset of DYT from the first to third decade. There is no ataxia or apparent cognitive involvement. Neuroimaging and peripheral neurophysiology are normal. Generalized DYT improved markedly with deep brain stimulation in 1 child. The disease locus was mapped to a region on chromosome 2q 24-31, flanked by markers rs1424937-rs1559510, proximal to SPG13, in a region where there are no known HSP or DYT genes. A secondary analysis for candidate genes segregating with the DYT phenotype revealed two candidate regions with parametric lod scores above 2.0. On the basis of clinical presentation and linkage results, we conclude that this disease is a novel neurological disorder. Identifying the causative gene may elucidate an important pathway for pyramidal and extrapyramidal disorders.</AbstractText><CopyrightInformation>(c) 2008 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Gilbert</LastName><ForeName>Donald L</ForeName><Initials>DL</Initials><AffiliationInfo><Affiliation>Division of Neurology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati School of Medicine, Cincinnati, Ohio 45229-3039, USA. d.gilbert@cchmc.org</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Leslie</LastName><ForeName>Elizabeth J</ForeName><Initials>EJ</Initials></Author><Author ValidYN="Y"><LastName>Keddache</LastName><ForeName>Mehdi</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Leslie</LastName><ForeName>Nancy D</ForeName><Initials>ND</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList></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="D017931">DNA Primers</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000293">Adolescent</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002648">Child</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" 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UI="D006239">Haplotypes</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009460">Neurologic Examination</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010375">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010641">Phenotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020641">Polymorphism, Single Nucleotide</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D015419">Spastic Paraplegia, Hereditary</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="N" UI="Q000453">epidemiology</QualifierName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D019680">Trinucleotide Repeat Expansion</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D014743">Videotape Recording</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D055815">Young Adult</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2008</Year><Month>11</Month><Day>14</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2009</Year><Month>7</Month><Day>28</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2008</Year><Month>11</Month><Day>14</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.22363</ArticleId><ArticleId IdType="pubmed">19006192</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>États-Unis</li></country></list><tree><noCountry><name sortKey="Keddache, Mehdi" sort="Keddache, Mehdi" uniqKey="Keddache M" first="Mehdi" last="Keddache">Mehdi Keddache</name><name sortKey="Leslie, Elizabeth J" sort="Leslie, Elizabeth J" uniqKey="Leslie E" first="Elizabeth J" last="Leslie">Elizabeth J. Leslie</name><name sortKey="Leslie, Nancy D" sort="Leslie, Nancy D" uniqKey="Leslie N" first="Nancy D" last="Leslie">Nancy D. Leslie</name></noCountry><country name="États-Unis"><noRegion><name sortKey="Gilbert, Donald L" sort="Gilbert, Donald L" uniqKey="Gilbert D" first="Donald L" last="Gilbert">Donald L. Gilbert</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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