Literature DB >> 3156966

Hereditary whispering dysphonia.

N Parker.   

Abstract

An Australian family group is described where at least twenty members have inherited torsion dystonia and two siblings with an affected mother have similar clinical manifestations, but have also the biochemical and pathological changes found in Wilson's disease. Whispering dysphonia was the commonest presenting symptom, and a diagnosis of hysteria was invariably made if the family history was not known. This group emphasises the enormously varied ways in which torsion dystonia may be manifested in one family, and raises the possibility of a disturbance in copper transport in diseases of the basal ganglia other than Wilson's disease.

Entities:  

Mesh:

Year:  1985        PMID: 3156966      PMCID: PMC1028253          DOI: 10.1136/jnnp.48.3.218

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN: 0022-3050            Impact factor:   10.154


  3 in total

1.  Rigid and akinetic forms of Huntington's chorea.

Authors:  J B BITTENBENDER; F A QUADFASEL
Journal:  Arch Neurol       Date:  1962-10

2.  Idiopathic dystonia musculorum deformans. II. The formes frustes.

Authors:  W ZEMAN; R KAELBLING; B PASAMANICK
Journal:  Neurology       Date:  1960-12       Impact factor: 9.910

3.  [Family incidence of idiopathic torsion dystonia].

Authors:  H VON KEYSERLINGK
Journal:  Nervenarzt       Date:  1956-01-20       Impact factor: 1.214

  3 in total
  25 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.  The many faces of TUBB4A mutations.

Authors:  Katja Lohmann; Christine Klein
Journal:  Neurogenetics       Date:  2014-03-21       Impact factor: 2.660

Review 3.  The dystonias.

Authors:  P R Jarman; T T Warner
Journal:  J Med Genet       Date:  1998-04       Impact factor: 6.318

Review 4.  Recent advances in the genetics of dystonia.

Authors:  Jianfeng Xiao; Satya R Vemula; Mark S LeDoux
Journal:  Curr Neurol Neurosci Rep       Date:  2014-08       Impact factor: 5.081

5.  Generalized dystonia, whispering dysphonia and Wilson's disease in members of the same family.

Authors:  R Elwes; M Saunders
Journal:  J Neurol Neurosurg Psychiatry       Date:  1986-01       Impact factor: 10.154

6.  Coincidence of Wilson's disease with other movement disorders in the same family.

Authors:  N P Quinn; C D Marsden
Journal:  J Neurol Neurosurg Psychiatry       Date:  1986-02       Impact factor: 10.154

7.  Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene.

Authors:  Lubov Blumkin; Ayelet Halevy; Dominique Ben-Ami-Raichman; Dvir Dahari; Ami Haviv; Cohen Sarit; Dorit Lev; Marjo S van der Knaap; Tally Lerman-Sagie; Esther Leshinsky-Silver
Journal:  Neurogenetics       Date:  2014-02-14       Impact factor: 2.660

8.  Cortical sensorimotor alterations classify clinical phenotype and putative genotype of spasmodic dysphonia.

Authors:  G Battistella; S Fuertinger; L Fleysher; L J Ozelius; K Simonyan
Journal:  Eur J Neurol       Date:  2016-06-27       Impact factor: 6.089

9.  Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene.

Authors:  Katja Lohmann; Robert A Wilcox; Susen Winkler; Alfredo Ramirez; Aleksandar Rakovic; Jin-Sung Park; Björn Arns; Thora Lohnau; Justus Groen; Meike Kasten; Norbert Brüggemann; Johann Hagenah; Alexander Schmidt; Frank J Kaiser; Kishore R Kumar; Katja Zschiedrich; Daniel Alvarez-Fischer; Eckart Altenmüller; Andreas Ferbert; Anthony E Lang; Alexander Münchau; Vladimir Kostic; Kristina Simonyan; Marc Agzarian; Laurie J Ozelius; Antonius P M Langeveld; Carolyn M Sue; Marina A J Tijssen; Christine Klein
Journal:  Ann Neurol       Date:  2013-04-17       Impact factor: 10.422

10.  GNAL mutation in isolated laryngeal dystonia.

Authors:  Gregory G Putzel; Tania Fuchs; Giovanni Battistella; Estee Rubien-Thomas; Steven J Frucht; Andrew Blitzer; Laurie J Ozelius; Kristina Simonyan
Journal:  Mov Disord       Date:  2016-02-01       Impact factor: 10.338

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