Literature DB >> 15390074

Autosomal recessive primary generalized dystonia in two siblings from a consanguineous family.

Paolo Moretti1, Peter Hedera, John Wald, John Fink.   

Abstract

We describe the clinical features of a brother and sister with non-dopa-responsive, childhood-onset, generalized dystonia. The children were born to consanguineous parents, had no family history of neurologic disease, no evidence of structural or metabolic causes of dystonia, and negative testing for the GAG946 deletion mutation in the DYT1 gene. This report supports the existence of a generalized type of dystonia with autosomal recessive inheritance (DYT2). Copyright 2004 Movement Disorder Society.

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Year:  2005        PMID: 15390074     DOI: 10.1002/mds.20228

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


  6 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

Review 3.  The genetics of dystonias.

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

4.  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

5.  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

6.  Naming Genes for Dystonia: DYT-z or Ditzy?

Authors:  Niccolo E Mencacci; H A Jinnah
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2019-08-28
  6 in total

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