Literature DB >> 11835464

Late-onset axial jerky dystonia due to the DYT1 deletion.

Patrick F Chinnery1, Paul J Reading, Emma L McCarthy, Ann Curtis, David J Burn.   

Abstract

We describe a 71-year-old woman who presented to the neurology department late in life with a jerky axial dystonia due to the DYT1 GAG deletion. She recalled that her symptoms began 62 years prior to study and remained unchanged for 40 years, illustrating the broad phenotype of DYT1 idiopathic torsion dystonia. Copyright 2001 Movement Disorder Society.

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Year:  2002        PMID: 11835464     DOI: 10.1002/mds.10021

Source DB:  PubMed          Journal:  Mov Disord        ISSN: 0885-3185            Impact factor:   10.338


  3 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

2.  Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes.

Authors:  S Tezenas du Montcel; F Clot; M Vidailhet; E Roze; P Damier; C P Jedynak; A Camuzat; A Lagueny; L Vercueil; D Doummar; L Guyant-Maréchal; J-L Houeto; G Ponsot; S Thobois; M-A Cournelle; A Durr; F Durif; B Echenne; D Hannequin; C Tranchant; A Brice
Journal:  J Med Genet       Date:  2005-10-14       Impact factor: 6.318

Review 3.  Classification of Dystonia.

Authors:  Lazzaro di Biase; Alessandro Di Santo; Maria Letizia Caminiti; Pasquale Maria Pecoraro; Vincenzo Di Lazzaro
Journal:  Life (Basel)       Date:  2022-01-29
  3 in total

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