Literature DB >> 11724910

Sex linked recessive dystonia parkinsonism of Panay, Philippines (XDP).

L V Lee1, E L Munoz, K T Tan, M T Reyes.   

Abstract

Sex linked dystonia parkinsonism (XDP), also referred to as "lubag" in American literature, was described in 1975 occurring endemically in Panay, Philippines. It is an adult onset, sex linked, predominantly male, severe, progressive movement disorder with high penetrance and a high frequency of generalisation. The movement disorder is characterised by dystonic movements, usually starting in the 3rd or 4th decade, spreading to generalisation within two to five years. The dystonia coexists or is replaced by parkinsonism usually beyond the 10th year of illness. No treatment has been found to be effective. Neuroimaging shows caudate and putamenal atrophy in patients reaching the parkinsonian stage. Neuropathology reveals pronounced atrophy of the caudate and putamen, mostly in the cases with long standing illness. The sex linked pattern of inheritance has been established. Genetic studies have located the affected gene (DYT3) to Xq13.1, with one group mapping the XDP gene to a < 350 kb locus in the DXS 7117-DXS 559 region.

Entities:  

Mesh:

Year:  2001        PMID: 11724910      PMCID: PMC1187125     

Source DB:  PubMed          Journal:  Mol Pathol        ISSN: 1366-8714


  16 in total

1.  Refined linkage disequilibrium and physical mapping of the gene locus for X-linked dystonia-parkinsonism (DYT3).

Authors:  A H Németh; D Nolte; E Dunne; S Niemann; M Kostrzewa; U Peters; E Fraser; E Bochukova; R Butler; J Brown; R D Cox; E R Levy; H H Ropers; A P Monaco; U Müller
Journal:  Genomics       Date:  1999-09-15       Impact factor: 5.736

2.  AFX1 and p54nrb: fine mapping, genomic structure, and exclusion as candidate genes of X-linked dystonia parkinsonism.

Authors:  U Peters; G Haberhausen; M Kostrzewa; D Nolte; U Müller
Journal:  Hum Genet       Date:  1997-10       Impact factor: 4.132

3.  X-linked Dystonia-Deafness syndrome.

Authors:  M W Hayes; R A Ouvrier; W Evans; E Somerville; J G Morris
Journal:  Mov Disord       Date:  1998-03       Impact factor: 10.338

4.  Torsion dystonia in Panay, Philippines.

Authors:  L V Lee; F M Pascasio; F D Fuentes; G H Viterbo
Journal:  Adv Neurol       Date:  1976

Review 5.  Development of the nigrostriatal dopamine neuron and the pathways in the basal ganglia.

Authors:  M Segawa
Journal:  Brain Dev       Date:  2000-09       Impact factor: 1.961

6.  Delineation of the dystonia-parkinsonism syndrome locus in Xq13.

Authors:  M B Graeber; K G Kupke; U Müller
Journal:  Proc Natl Acad Sci U S A       Date:  1992-09-01       Impact factor: 11.205

7.  Neuropathology of lubag (x-linked dystonia parkinsonism).

Authors:  C H Waters; P L Faust; J Powers; H Vinters; C Moskowitz; T Nygaard; A L Hunt; S Fahn
Journal:  Mov Disord       Date:  1993-07       Impact factor: 10.338

8.  Spontaneous oral-facial dyskinesia: neuropathology of a case.

Authors:  P H Altrocchi; L S Forno
Journal:  Neurology       Date:  1983-06       Impact factor: 9.910

9.  DXS106 and DXS559 flank the X-linked dystonia-parkinsonism syndrome locus (DYT3).

Authors:  U Müller; G Haberhausen; T Wagner; N D Fairweather; J Chelly; A P Monaco
Journal:  Genomics       Date:  1994-09-01       Impact factor: 5.736

10.  Assignment of the dystonia-parkinsonism syndrome locus, DYT3, to a small region within a 1.8-Mb YAC contig of Xq13.1.

Authors:  G Haberhausen; I Schmitt; A Köhler; U Peters; S Rider; J Chelly; J D Terwilliger; A P Monaco; U Müller
Journal:  Am J Hum Genet       Date:  1995-09       Impact factor: 11.025

View more
  10 in total

1.  Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism.

Authors:  Satoshi Makino; Ryuji Kaji; Satoshi Ando; Maiko Tomizawa; Katsuhito Yasuno; Satoshi Goto; Shinnichi Matsumoto; Maria Daisy Tabuena; Elma Maranon; Marita Dantes; Lillian V Lee; Kazumasa Ogasawara; Ikuo Tooyama; Hiroyasu Akatsu; Masataka Nishimura; Gen Tamiya
Journal:  Am J Hum Genet       Date:  2007-01-23       Impact factor: 11.025

2.  Deep Brain Stimulation for DYT3 Dystonia.

Authors:  Alexander Lehn; Caroline Airey; Sarah Olson; John D O'Sullivan; Richard Boyle
Journal:  Mov Disord Clin Pract       Date:  2014-04-10

3.  Including diverse and admixed populations in genetic epidemiology research.

Authors:  Amke Caliebe; Fasil Tekola-Ayele; Burcu F Darst; Xuexia Wang; Yeunjoo E Song; Jiang Gui; Ronnie A Sebro; David J Balding; Mohamad Saad; Marie-Pierre Dubé
Journal:  Genet Epidemiol       Date:  2022-07-16       Impact factor: 2.344

4.  Genome screen to identify susceptibility genes for Parkinson disease in a sample without parkin mutations.

Authors:  Nathan Pankratz; William C Nichols; Sean K Uniacke; Cheryl Halter; Alice Rudolph; Cliff Shults; P Michael Conneally; Tatiana Foroud
Journal:  Am J Hum Genet       Date:  2002-06-07       Impact factor: 11.025

Review 5.  X-linked dystonia parkinsonism: clinical phenotype, genetics and therapeutics.

Authors:  Raymond L Rosales
Journal:  J Mov Disord       Date:  2010-10-30

Review 6.  Clinicopathological Phenotype and Genetics of X-Linked Dystonia-Parkinsonism (XDP; DYT3; Lubag).

Authors:  Toshitaka Kawarai; Ryoma Morigaki; Ryuji Kaji; Satoshi Goto
Journal:  Brain Sci       Date:  2017-06-26

Review 7.  Pathogenesis of dystonia: is it of cerebellar or basal ganglia origin?

Authors:  Ryuji Kaji; Kailash Bhatia; Ann M Graybiel
Journal:  J Neurol Neurosurg Psychiatry       Date:  2017-10-31       Impact factor: 10.154

8.  Increased insula-putamen connectivity in X-linked dystonia-parkinsonism.

Authors:  Anne J Blood; Jeff L Waugh; Thomas F Münte; Marcus Heldmann; Aloysius Domingo; Christine Klein; Hans C Breiter; Lillian V Lee; Raymond L Rosales; Norbert Brüggemann
Journal:  Neuroimage Clin       Date:  2017-10-28       Impact factor: 4.881

9.  Decreased N-TAF1 expression in X-linked dystonia-parkinsonism patient-specific neural stem cells.

Authors:  Naoto Ito; William T Hendriks; Jyotsna Dhakal; Christine A Vaine; Christina Liu; David Shin; Kyle Shin; Noriko Wakabayashi-Ito; Marisela Dy; Trisha Multhaupt-Buell; Nutan Sharma; Xandra O Breakefield; D Cristopher Bragg
Journal:  Dis Model Mech       Date:  2016-01-14       Impact factor: 5.758

10.  Elucidating Hexanucleotide Repeat Number and Methylation within the X-Linked Dystonia-Parkinsonism (XDP)-Related SVA Retrotransposon in TAF1 with Nanopore Sequencing.

Authors:  Theresa Lüth; Joshua Laβ; Susen Schaake; Inken Wohlers; Jelena Pozojevic; Roland Dominic G Jamora; Raymond L Rosales; Norbert Brüggemann; Gerard Saranza; Cid Czarina E Diesta; Kathleen Schlüter; Ronnie Tse; Charles Jourdan Reyes; Max Brand; Hauke Busch; Christine Klein; Ana Westenberger; Joanne Trinh
Journal:  Genes (Basel)       Date:  2022-01-11       Impact factor: 4.096

  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.