Phenomenology of "Lubag" or X-linked dystonia-parkinsonism.
Identifieur interne : 003912 ( PubMed/Corpus ); précédent : 003911; suivant : 003913Phenomenology of "Lubag" or X-linked dystonia-parkinsonism.
Auteurs : Virgilio Gerald H. Evidente ; Joel Advincula ; Raymund Esteban ; Paul Pasco ; Jhoe Anthony Alfon ; Filipinas F. Natividad ; Joven Cuanang ; Amado San Luis ; Katrina Gwinn-Hardy ; John Hardy ; Dena Hernandez ; Andrew SingletonSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2002.
English descriptors
- KwdEn :
- Adult, Diagnosis, Differential, Dystonic Disorders (diagnosis), Dystonic Disorders (genetics), Ethnic Groups (genetics), Genetic Diseases, X-Linked (diagnosis), Genetic Diseases, X-Linked (genetics), Genetic Markers (genetics), Haplotypes, Heterozygote Detection, Humans, Male, Middle Aged, Neurologic Examination, Parkinsonian Disorders (diagnosis), Parkinsonian Disorders (genetics), Phenotype, Philippines (ethnology), United States.
- MESH :
- chemical , genetics : Genetic Markers.
- geographic , ethnology : Philippines.
- diagnosis : Dystonic Disorders, Genetic Diseases, X-Linked, Parkinsonian Disorders.
- genetics : Dystonic Disorders, Ethnic Groups, Genetic Diseases, X-Linked, Parkinsonian Disorders.
- Adult, Diagnosis, Differential, Haplotypes, Heterozygote Detection, Humans, Male, Middle Aged, Neurologic Examination, Phenotype, United States.
Abstract
X-linked dystonia-parkinsonism (XDP), or Lubag syndrome, is known to cause progressive dystonia, with or without parkinsonism, among Filipino male adults with maternal roots from the Philippine island of Panay. We present cinematographic material of 11 cases of Lubag carrying the XDP haplotypes who manifest with a wide spectrum of movement disorders, including dystonia, tremor, parkinsonism, myoclonus, chorea, and myorhythmia. Because of overlapping features, Lubag patients are commonly misdiagnosed as idiopathic dystonia, essential tremor, Parkinson's disease, or Parkinson's-plus syndromes. Thus, it is imperative to elicit an exhaustive family history in any Filipino male adult who presents with a movement disorder.
DOI: 10.1002/mds.10271
PubMed: 12465067
Links to Exploration step
pubmed:12465067Le document en format XML
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Evidente</name><affiliation><nlm:affiliation>Department of Neurology, Mayo Clinic, Scottsdale, Arizona 85259, USA. evidente.virgilio@mayo.edu</nlm:affiliation></affiliation></author><author><name sortKey="Advincula, Joel" sort="Advincula, Joel" uniqKey="Advincula J" first="Joel" last="Advincula">Joel Advincula</name></author><author><name sortKey="Esteban, Raymund" sort="Esteban, Raymund" uniqKey="Esteban R" first="Raymund" last="Esteban">Raymund Esteban</name></author><author><name sortKey="Pasco, Paul" sort="Pasco, Paul" uniqKey="Pasco P" first="Paul" last="Pasco">Paul Pasco</name></author><author><name sortKey="Alfon, Jhoe Anthony" sort="Alfon, Jhoe Anthony" uniqKey="Alfon J" first="Jhoe Anthony" last="Alfon">Jhoe Anthony Alfon</name></author><author><name sortKey="Natividad, Filipinas F" sort="Natividad, Filipinas F" uniqKey="Natividad F" first="Filipinas F" last="Natividad">Filipinas F. Natividad</name></author><author><name sortKey="Cuanang, Joven" sort="Cuanang, Joven" uniqKey="Cuanang J" first="Joven" last="Cuanang">Joven Cuanang</name></author><author><name sortKey="Luis, Amado San" sort="Luis, Amado San" uniqKey="Luis A" first="Amado San" last="Luis">Amado San Luis</name></author><author><name sortKey="Gwinn Hardy, Katrina" sort="Gwinn Hardy, Katrina" uniqKey="Gwinn Hardy K" first="Katrina" last="Gwinn-Hardy">Katrina Gwinn-Hardy</name></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name></author><author><name sortKey="Hernandez, Dena" sort="Hernandez, Dena" uniqKey="Hernandez D" first="Dena" last="Hernandez">Dena Hernandez</name></author><author><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2002">2002</date><idno type="RBID">pubmed:12465067</idno><idno type="pmid">12465067</idno><idno type="doi">10.1002/mds.10271</idno><idno type="wicri:Area/PubMed/Corpus">003912</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Phenomenology of "Lubag" or X-linked dystonia-parkinsonism.</title><author><name sortKey="Evidente, Virgilio Gerald H" sort="Evidente, Virgilio Gerald H" uniqKey="Evidente V" first="Virgilio Gerald H" last="Evidente">Virgilio Gerald H. 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We present cinematographic material of 11 cases of Lubag carrying the XDP haplotypes who manifest with a wide spectrum of movement disorders, including dystonia, tremor, parkinsonism, myoclonus, chorea, and myorhythmia. Because of overlapping features, Lubag patients are commonly misdiagnosed as idiopathic dystonia, essential tremor, Parkinson's disease, or Parkinson's-plus syndromes. Thus, it is imperative to elicit an exhaustive family history in any Filipino male adult who presents with a movement disorder.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">12465067</PMID><DateCreated><Year>2002</Year><Month>12</Month><Day>04</Day></DateCreated><DateCompleted><Year>2003</Year><Month>03</Month><Day>24</Day></DateCompleted><DateRevised><Year>2006</Year><Month>11</Month><Day>15</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>17</Volume><Issue>6</Issue><PubDate><Year>2002</Year><Month>Nov</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. 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Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009460">Neurologic Examination</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020734">Parkinsonian Disorders</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010641">Phenotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" Type="Geographic" UI="D010679">Philippines</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000208">ethnology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" Type="Geographic" UI="D014481">United States</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate 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