دورية أكاديمية
Genetic mapping of "Lubag" (X-linked dystonia-parkinsonism) in a Filipino kindred to the pericentromeric region of the X chromosome.
| العنوان: | Genetic mapping of "Lubag" (X-linked dystonia-parkinsonism) in a Filipino kindred to the pericentromeric region of the X chromosome. |
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| المؤلفون: | Wilhelmsen KC; Department of Neurology, Columbia-Presbyterian Medical Center, New York, NY 10032., Weeks DE, Nygaard TG, Moskowitz CB, Rosales RL, dela Paz DC, Sobrevega EE, Fahn S, Gilliam TC |
| المصدر: | Annals of neurology [Ann Neurol] 1991 Feb; Vol. 29 (2), pp. 124-31. |
| نوع المنشور: | Journal Article; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print Cited Medium: Print ISSN: 0364-5134 (Print) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: New York, NY : Wiley-Liss Original Publication: Boston, Little, Brown. |
| مواضيع طبية MeSH: | Genetic Linkage* , X Chromosome*, Dystonia/*genetics , Parkinson Disease/*genetics, Adult ; Aged ; Chromosome Mapping ; Genetic Markers/genetics ; Humans ; Male ; Middle Aged ; Neurologic Examination ; Pedigree ; Philippines ; Polymorphism, Restriction Fragment Length |
| مستخلص: | "Lubag" is an X-linked disorder causing dystonia and parkinsonism that has only been described in families from the Philippines, principally from the island of Panay. We have established linkage between the disease phenotype "lubag" and DNA markers which span the Xp11.22-Xq21.3 region by using a large Filipino family with 8 affected men in three generations. These DNA markers define an interval of about 20 centimorgans in the pericentromeric region of the X chromosome as the most likely site of the disease locus XDPD (X-linked dystonia-parkinsonism). XDPD has a maximum multipoint log likelihood ratio score (Zmax) of about 4.6 over the interval from Xq12 to Xq21.31 (DXS159-DXYS1X). The co-occurrence of dystonia and parkinsonism in lubag and in other known disorders suggests there may be a common pathogenetic mechanism. Identification of the genetic defect in this family may provide an important clue toward understanding the pathogenesis and pathophysiology of both dystonia and parkinsonism. |
| المشرفين على المادة: | 0 (Genetic Markers) |
| تواريخ الأحداث: | Date Created: 19910201 Date Completed: 19910509 Latest Revision: 20101118 |
| رمز التحديث: | 20221208 |
| DOI: | 10.1002/ana.410290203 |
| PMID: | 1672807 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 0364-5134 |
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| DOI: | 10.1002/ana.410290203 |