Literature DB >> 941767

Torsion dystonia in Panay, Philippines.

L V Lee, F M Pascasio, F D Fuentes, G H Viterbo.   

Abstract

There is an unusually high frequency of torsion dystonia in Panay. Of the 28 Filipino cases, 23 (82%) are from the island of Panay and 19 of the 23 (82%) are from the province of Capiz. The 28 cases belong to 25 families Six sets of brothers are noted. All are males. Pedigree analysis reveals six families with several members affected. Two families show features suggesting possible sex-linked recessive transmission, a mode of inheritance previously undescribed in the literature. The clinical features of the cases seen in this series differ from previously described cases in the literature in several aspects: (a) sex preponderance--all males; (b) age at onset--older age of onset, mean of 31; (c) hereditary--possible sex-linked recessive transmission; (d) spasmodic eye blinking as first symptom in four patients.

Entities:  

Mesh:

Year:  1976        PMID: 941767

Source DB:  PubMed          Journal:  Adv Neurol        ISSN: 0091-3952


  32 in total

Review 1.  The genetics of idiopathic torsion dystonia.

Authors:  N A Fletcher
Journal:  J Med Genet       Date:  1990-07       Impact factor: 6.318

Review 2.  X-linked dystonia Parkinsonism: crossing a new threshold.

Authors:  Arlene R Ng; Roland Dominic G Jamora; Raymond L Rosales
Journal:  J Neural Transm (Vienna)       Date:  2021-03-15       Impact factor: 3.575

3.  Dystonia-parkinsonism syndrome (XDP) locus: flanking markers in Xq12-q21.1.

Authors:  K G Kupke; M B Graeber; U Müller
Journal:  Am J Hum Genet       Date:  1992-04       Impact factor: 11.025

4.  Segregation analysis of idiopathic torsion dystonia in Ashkenazi Jews suggests autosomal dominant inheritance.

Authors:  N J Risch; S B Bressman; D deLeon; M F Brin; R E Burke; P E Greene; H Shale; E B Claus; L A Cupples; S Fahn
Journal:  Am J Hum Genet       Date:  1990-03       Impact factor: 11.025

5.  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

6.  X-linked Dystonia-Parkinsonism patient cells exhibit altered signaling via nuclear factor-kappa B.

Authors:  Christine A Vaine; David Shin; Christina Liu; William T Hendriks; Jyotsna Dhakal; Kyle Shin; Nutan Sharma; D Cristopher Bragg
Journal:  Neurobiol Dis       Date:  2016-12-22       Impact factor: 5.996

Review 7.  X-Linked Dystonia-Parkinsonism: recent advances.

Authors:  D Cristopher Bragg; Nutan Sharma; Laurie J Ozelius
Journal:  Curr Opin Neurol       Date:  2019-08       Impact factor: 5.710

Review 8.  The genetics of primary torsion dystonia.

Authors:  U Müller; K G Kupke
Journal:  Hum Genet       Date:  1990-01       Impact factor: 4.132

Review 9.  Update on the Genetics of Dystonia.

Authors:  Katja Lohmann; Christine Klein
Journal:  Curr Neurol Neurosci Rep       Date:  2017-03       Impact factor: 5.081

10.  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

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