MovDisordV3, Main, Exploration, bibRecord, 004352

Phenomenology of “Lubag” or X‐linked dystonia–parkinsonism

Identifieur interne : 004352 ( Main/Exploration ); précédent : 004351; suivant : 004353

Phenomenology of “Lubag” or X‐linked dystonia–parkinsonism

Auteurs : Virgilio Gerald H. Evidente [États-Unis, Philippines] ; Joel Advincula [Philippines] ; Raymund Esteban [Philippines] ; Paul Pasco [Philippines] ; Jhoe Anthony Alfon [Philippines] ; Filipinas F. Natividad [Philippines] ; Joven Cuanang [Philippines] ; Amado San Luis [Philippines] ; Katrina Gwinn-Hardy [États-Unis] ; John Hardy [États-Unis] ; Dena Hernandez [États-Unis] ; Andrew Singleton [États-Unis]

Source :

Movement Disorders [ 0885-3185 ] ; 2002-11.

RBID : ISTEX:B55D593375142860E751292EC2E90362B7C27184

Descripteurs français

Pascal (Inist)
- Chromosome X, Dystonie, Enregistrement vidéo, Homme, Lubag syndrome, Parkinson maladie, Philippines, Phénoménologie, Symptomatologie.
Wicri :
- geographic : Philippines.
- topic : Homme.

English descriptors

KwdEn :
- Adult, Diagnosis, Differential, Dystonia, 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, Human, Humans, Lubag, Male, Middle Aged, Neurologic Examination, Parkinson disease, Parkinsonian Disorders (diagnosis), Parkinsonian Disorders (genetics), Phenomenology, Phenotype, Philippine Islands, Philippines (ethnology), Symptomatology, United States, Video recording, X-Chromosome, XDP, dystonia, parkinsonism.
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. © 2002 Movement Disorder Society

Url:

https://api.istex.fr/document/B55D593375142860E751292EC2E90362B7C27184/fulltext/pdf

DOI: 10.1002/mds.10271

Affiliations:

Le document en format XML

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<author><name sortKey="Gwinn Ardy, Katrina" sort="Gwinn Ardy, Katrina" uniqKey="Gwinn Ardy K" first="Katrina" last="Gwinn-Hardy">Katrina Gwinn-Hardy</name>
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<author><name sortKey="Gwinn Ardy, Katrina" sort="Gwinn Ardy, Katrina" uniqKey="Gwinn Ardy K" first="Katrina" last="Gwinn-Hardy">Katrina Gwinn-Hardy</name>
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<author><name sortKey="Hernandez, Dena" sort="Hernandez, Dena" uniqKey="Hernandez D" first="Dena" last="Hernandez">Dena Hernandez</name>
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<author><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name>
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<term>Diagnosis, Differential</term>
<term>Dystonia</term>
<term>Dystonic Disorders (diagnosis)</term>
<term>Dystonic Disorders (genetics)</term>
<term>Ethnic Groups (genetics)</term>
<term>Genetic Diseases, X-Linked (diagnosis)</term>
<term>Genetic Diseases, X-Linked (genetics)</term>
<term>Genetic Markers (genetics)</term>
<term>Haplotypes</term>
<term>Heterozygote Detection</term>
<term>Human</term>
<term>Humans</term>
<term>Lubag</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Neurologic Examination</term>
<term>Parkinson disease</term>
<term>Parkinsonian Disorders (diagnosis)</term>
<term>Parkinsonian Disorders (genetics)</term>
<term>Phenomenology</term>
<term>Phenotype</term>
<term>Philippine Islands</term>
<term>Philippines (ethnology)</term>
<term>Symptomatology</term>
<term>United States</term>
<term>Video recording</term>
<term>X-Chromosome</term>
<term>XDP</term>
<term>dystonia</term>
<term>parkinsonism</term>
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<term>Genetic Diseases, X-Linked</term>
<term>Parkinsonian Disorders</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonic Disorders</term>
<term>Ethnic Groups</term>
<term>Genetic Diseases, X-Linked</term>
<term>Parkinsonian Disorders</term>
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<term>Diagnosis, Differential</term>
<term>Haplotypes</term>
<term>Heterozygote Detection</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Neurologic Examination</term>
<term>Phenotype</term>
<term>United States</term>
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<term>Parkinson maladie</term>
<term>Philippines</term>
<term>Phénoménologie</term>
<term>Symptomatologie</term>
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<front><div type="abstract" xml:lang="en">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. © 2002 Movement Disorder Society</div>
</front>
</TEI>
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<name sortKey="Advincula, Joel" sort="Advincula, Joel" uniqKey="Advincula J" first="Joel" last="Advincula">Joel Advincula</name>
<name sortKey="Alfon, Jhoe Anthony" sort="Alfon, Jhoe Anthony" uniqKey="Alfon J" first="Jhoe Anthony" last="Alfon">Jhoe Anthony Alfon</name>
<name sortKey="Cuanang, Joven" sort="Cuanang, Joven" uniqKey="Cuanang J" first="Joven" last="Cuanang">Joven Cuanang</name>
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Movement Disorders (revue)

Phenomenology of “Lubag” or X‐linked dystonia–parkinsonism

Phenomenology of “Lubag” or X‐linked dystonia–parkinsonism

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.