Literature DB >> 9382482

Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families.

L Almasy1, S B Bressman, D Raymond, P L Kramer, P E Greene, G A Heiman, B Ford, J Yount, D de Leon, S Chouinard, R Saunders-Pullman, M F Brin, R P Kapoor, A C Jones, H Shen, S Fahn, N J Risch, T G Nygaard.   

Abstract

The DYT1 locus on chromosome 9q34 is responsible for most childhood limb-onset idiopathic torsion dystonia (ITD). Linkage to DYT1 has been excluded in families with adult-onset, and predominantly cranial-cervical, ITD. We mapped a locus (DYT6) associated with prominent cranial-cervical ITD in two large Mennonite families to chromosome 8. An identical haplotype spanning 40-cM segregates with ITD in these families, suggesting a shared mutation from the recent past.

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Year:  1997        PMID： 9382482     DOI： 10.1002/ana.410420421

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


  20 in total

Review 1.  Genetic and clinical features of primary torsion dystonia.

Authors:  Laurie J Ozelius; Susan B Bressman
Journal:  Neurobiol Dis       Date:  2010-12-17       Impact factor: 5.996

Review 2.  Inherited isolated dystonia: clinical genetics and gene function.

Authors:  William Dauer
Journal:  Neurotherapeutics       Date:  2014-10       Impact factor: 7.620

Review 3.  Using the shared genetics of dystonia and ataxia to unravel their pathogenesis.

Authors:  Esther A R Nibbeling; Cathérine C S Delnooz; Tom J de Koning; Richard J Sinke; Hyder A Jinnah; Marina A J Tijssen; Dineke S Verbeek
Journal:  Neurosci Biobehav Rev       Date:  2017-01-28       Impact factor: 8.989

Review 4.  Primary dystonia: molecules and mechanisms.

Authors:  Lauren M Tanabe; Connie E Kim; Noga Alagem; William T Dauer
Journal:  Nat Rev Neurol       Date:  2009-10-13       Impact factor: 42.937

5.  The c.-237_236GA>TT THAP1 sequence variant does not increase risk for primary dystonia.

Authors:  Jianfeng Xiao; Yu Zhao; Robert W Bastian; Joel S Perlmutter; Brad A Racette; Samer D Tabbal; Morvarid Karimi; Randal C Paniello; Zbigniew K Wszolek; Ryan J Uitti; Jay A Van Gerpen; David K Simon; Daniel Tarsy; Peter Hedera; Daniel D Truong; Karen P Frei; Andrew Blitzer; Monika Rudzińska; Ronald F Pfeiffer; Carrie Le; Mark S LeDoux
Journal:  Mov Disord       Date:  2011-03-02       Impact factor: 10.338

6.  Heterogeneity in primary dystonia: lessons from THAP1, GNAL, and TOR1A in Amish-Mennonites.

Authors:  Rachel Saunders-Pullman; Tania Fuchs; Marta San Luciano; Deborah Raymond; Alison Brashear; Robert Ortega; Andres Deik; Laurie J Ozelius; Susan B Bressman
Journal:  Mov Disord       Date:  2014-02-05       Impact factor: 10.338

7.  THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression.

Authors:  Fu Bo Cheng; Laurie J Ozelius; Xin Hua Wan; Jia Chun Feng; Ling Yan Ma; Ying Mai Yang; Lin Wang
Journal:  J Neurol       Date:  2011-07-29       Impact factor: 4.849

Review 8.  Phenomenology, genetics, and CNS network abnormalities in laryngeal dystonia: A 30-year experience.

Authors:  Andrew Blitzer; Mitchell F Brin; Kristina Simonyan; Laurie J Ozelius; Steven J Frucht
Journal:  Laryngoscope       Date:  2017-12-08       Impact factor: 3.325

9.  Novel THAP1 sequence variants in primary dystonia.

Authors:  J Xiao; Y Zhao; R W Bastian; J S Perlmutter; B A Racette; S D Tabbal; M Karimi; R C Paniello; Z K Wszolek; R J Uitti; J A Van Gerpen; D K Simon; D Tarsy; P Hedera; D D Truong; K P Frei; S Dev Batish; A Blitzer; R F Pfeiffer; S Gong; M S LeDoux
Journal:  Neurology       Date:  2010-01-19       Impact factor: 9.910

10.  Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia.

Authors:  Tania Fuchs; Sophie Gavarini; Rachel Saunders-Pullman; Deborah Raymond; Michelle E Ehrlich; Susan B Bressman; Laurie J Ozelius
Journal:  Nat Genet       Date:  2009-02-01       Impact factor: 38.330
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