Literature DB >> 14694054

Autosomal recessive, DYT2-like primary torsion dystonia: a new family.

Naheed L Khan1, Nicholas W Wood, Kailash P Bhatia.   

Abstract

The authors report the clinical characteristics of a Sephardic Jewish kindred with autosomal recessive DYT2-like primary torsion dystonia. Three siblings had childhood onset of limb dystonia, and slow progression to generalized dystonia with predominant cranio-cervical involvement. There were no other abnormal signs, apart from dystonia and jerky tremor over a 12-year follow-up. All investigations for other causes of primary and secondary dystonia had normal results.

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Year:  2003        PMID: 14694054     DOI: 10.1212/01.wnl.0000099076.17187.9a

Source DB:  PubMed          Journal:  Neurology        ISSN: 0028-3878            Impact factor:   9.910


  11 in total

Review 1.  Fixing the broken system of genetic locus symbols: Parkinson disease and dystonia as examples.

Authors:  Connie Marras; Katja Lohmann; Anthony Lang; Christine Klein
Journal:  Neurology       Date:  2012-03-27       Impact factor: 9.910

Review 2.  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

3.  The role of mutations in COL6A3 in isolated dystonia.

Authors:  Katja Lohmann; Felix Schlicht; Marina Svetel; Frauke Hinrichs; Simone Zittel; Julia Graf; Thora Lohnau; Alexander Schmidt; Pablo Mir; Patricia Krause; Antony E Lang; Hans-Christian Jabusch; Alexander Wolters; Christoph Kamm; Kirsten E Zeuner; Eckart Altenmüller; Sadaf Naz; Sun Ju Chung; Vladimir S Kostic; Alexander Münchau; Andrea A Kühn; Norbert Brüggemann; Christine Klein
Journal:  J Neurol       Date:  2016-02-12       Impact factor: 4.849

Review 4.  The genetics of dystonias.

Authors:  Mark S LeDoux
Journal:  Adv Genet       Date:  2012       Impact factor: 1.944

5.  Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.

Authors:  Michael Zech; Daniel D Lam; Ludmila Francescatto; Barbara Schormair; Aaro V Salminen; Angela Jochim; Thomas Wieland; Peter Lichtner; Annette Peters; Christian Gieger; Hanns Lochmüller; Tim M Strom; Bernhard Haslinger; Nicholas Katsanis; Juliane Winkelmann
Journal:  Am J Hum Genet       Date:  2015-05-21       Impact factor: 11.025

Review 6.  Early onset torsion dystonia (Oppenheim's dystonia).

Authors:  Christoph Kamm
Journal:  Orphanet J Rare Dis       Date:  2006-11-27       Impact factor: 4.123

7.  Mutations in HPCA cause autosomal-recessive primary isolated dystonia.

Authors:  Gavin Charlesworth; Plamena R Angelova; Fernando Bartolomé-Robledo; Mina Ryten; Daniah Trabzuni; Maria Stamelou; Andrey Y Abramov; Kailash P Bhatia; Nicholas W Wood
Journal:  Am J Hum Genet       Date:  2015-03-19       Impact factor: 11.025

8.  Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.

Authors:  Joshua Hersheson; Niccolo E Mencacci; Mary Davis; Nicola MacDonald; Daniah Trabzuni; Mina Ryten; Alan Pittman; Reema Paudel; Eleanna Kara; Katherine Fawcett; Vincent Plagnol; Kailash P Bhatia; Alan J Medlar; Horia C Stanescu; John Hardy; Robert Kleta; Nicholas W Wood; Henry Houlden
Journal:  Ann Neurol       Date:  2013-02-19       Impact factor: 10.422

9.  Genetic issues in the diagnosis of dystonias.

Authors:  Simona Petrucci; Enza Maria Valente
Journal:  Front Neurol       Date:  2013-04-10       Impact factor: 4.003

Review 10.  The genetics of dystonia: new twists in an old tale.

Authors:  Gavin Charlesworth; Kailash P Bhatia; Nicholas W Wood
Journal:  Brain       Date:  2013-06-17       Impact factor: 13.501

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