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Phenomenology of "Lubag" or X-linked dystonia-parkinsonism

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PUB-JAR-M-2002-EvidenteVG-FLT.pdf (86.08Kb)
Дата
2002-06-24
Автор
Evidente, Virgilio Gerald ORCID
Advincula, Joel
Esteban, Raymund
Pasco, Paul
Alfon, Jhoe Anthony
Natividad, Filipinas F.
Cuanang, Joven
San Luis, Amado
Gwinn-Hardy, Katrina
Hardy, John ORCID
Hernandez, Dena ORCID
Singleton, Andrew ORCID
MeSH term
Diagnosis, Differential MeSH
Dystonic Disorders MeSH
Genetic Carrier Screening MeSH
Genetic Diseases, X-Linked MeSH
Genetic Markers MeSH
Humans MeSH
Male MeSH
Neurologic Examination MeSH
Parkinsonian Disorders MeSH
Phenotype MeSH
Ethnology MeSH
Geographic name
Capiz TGN
Panay TGN
Metadata
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Аннотации
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.
URI
https://hdl.handle.net/20.500.14353/411
Recommended Citation
Evidente, V. G., Advincula, J., Esteban, R., Pasco, P., Alfon, J. A., Natividad, F. F., ... & Singleton, A. (2002). Phenomenology of "Lubag" or X-linked dystonia-parkinsonism. Movement Disorders, 17(6), 1271-1277.
DOI
10.1002/mds.10271
Type
Article
ISSN
0885-3185; 1531-8257
Keywords
Dystonia Lubag Parkinsonism XDP Lubag syndrome Myoclonus Chorea Myorhythmia Idiopathic dystonia Parkinson's-plus syndromes Family history
Тематика
Dystonia OCLC - FAST (Faceted Application of Subject Terminology) Parkinson's disease OCLC - FAST (Faceted Application of Subject Terminology) Movement disorders OCLC - FAST (Faceted Application of Subject Terminology) Phenomenology OCLC - FAST (Faceted Application of Subject Terminology) Syndromes OCLC - FAST (Faceted Application of Subject Terminology) Filipinos OCLC - FAST (Faceted Application of Subject Terminology) Phenotype OCLC - FAST (Faceted Application of Subject Terminology) Genetic disorders OCLC - FAST (Faceted Application of Subject Terminology) Genetic disorders--Diagnosis OCLC - FAST (Faceted Application of Subject Terminology) Genetics OCLC - FAST (Faceted Application of Subject Terminology) Human genetics OCLC - FAST (Faceted Application of Subject Terminology) Middle-aged men OCLC - FAST (Faceted Application of Subject Terminology) Tremor OCLC - FAST (Faceted Application of Subject Terminology) Chorea OCLC - FAST (Faceted Application of Subject Terminology) Genealogy OCLC - FAST (Faceted Application of Subject Terminology)
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  • Journal articles published externally [123]

Связанные элементы

Просмотр элементов, связанных по названию, автору, создателю или теме.

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    Application of long-range polymerase chain reaction in the diagnosis of X-linked dystonia-parkinsonism. 

    Kawarai, Toshitaka ORCID; Pasco, Paul Matthew D. ORCID; Teleg, Rosalia; Kamada, Masaki ORCID; Sakai, Waka ORCID; Shimozono, Komei; Mizuguchi, Makoto; Tabuena, Daisy; Orlacchio, Antonio ORCID; Izumi, Yuishin ORCID; Goto, Satoshi; Lee, Lillian V.; Kaji, Ryuji (Springer, 2013-05)
  • Thumbnail

    Depression in X-linked dystonia-parkinsonism: A case-control study 

    Morigaki, Ryoma ORCID; Nakataki, Masahito ORCID; Kawarai, Toshitaka ORCID; Lee, Lillian V.; Teleg, Rosalia A.; Tabuena, Ma. Daisy P.; Mure, Hideo ORCID; Sako, Wataru ORCID; Pasco, Paul Matthew D. ORCID; Nagahiro, Shinji ORCID; Iga, Junichi; Ohmori, Tetsuro ORCID; Goto, Satoshi; Kaji, Ryuji (Elsevier Inc., 2013-09-01)
    X-linked dystonia-parkinsonism (XDP), also known as lubag, was originally described as endemic to Panay, Philippines [ [1] ]. XDP demonstrates a primary and progressive neuronal degeneration of the striatum and is characterized ...
  • Thumbnail

    Landscape of genetic counseling in the Philippines 

    Abad, Peter James ORCID; Tumulak, Ma-Am Joy ORCID; Guerbo, Romer ORCID; De Castro-Hamoy, Leniza ORCID; Bautista, Niecy Grace; Nuique, Ramonito ORCID; Jacalan, Frances Isabelle ORCID; Talapian, Gay Luz; Felipe-Dimog, Eva Belingon ORCID; Lagarde, John Benedict ORCID; Plaga, Starlene Joy; Jover, Edbert Jasper ORCID; Morales, Kristine Dawn; Canoy, Graciel Mae; Laurino, Mercy ORCID (John Wiley and Sons Inc, 2023)
    In this paper, we report on the professional development of genetic counselors in the Philippines as we discuss the status of genetic counseling training and research, along with the roles and scope of practice of genetic ...

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