Literature DB >> 23893447

Primary dystonia: moribund or viable.

Susan B Bressman1, Rachel Saunders-Pullman.   

Abstract

With increasing understanding of dystonia genetic etiologies and pathophysiology there has been renewed scrutiny and reappraisal of dystonia classification schemes and nomenclature. One important category that includes both clinical and etiologic criteria is primary dystonia. This editorialized review discusses the impact of recent findings on primary dystonia criteria and argues that it remains useful in clinical and research practice.
© 2013 Movement Disorder Society. © 2013 Movement Disorder Society.

Entities:  

Keywords:  DYT1; GNAL; THAP1; classification; dystonia

Mesh:

Year:  2013        PMID: 23893447      PMCID: PMC3973177          DOI: 10.1002/mds.25528

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


  102 in total

1.  Spatial discrimination is abnormal in focal hand dystonia.

Authors:  W Bara-Jimenez; P Shelton; M Hallett
Journal:  Neurology       Date:  2000-12-26       Impact factor: 9.910

2.  Idiopathic dystonia musculorum deformans. I. The hereditary pattern.

Authors:  W ZEMAN; R KAELBLING; B PASAMANICK; J T JENKINS
Journal:  Am J Hum Genet       Date:  1959-06       Impact factor: 11.025

Review 3.  The dystonias.

Authors:  C D Marsden; N P Quinn
Journal:  BMJ       Date:  1990-01-20

4.  Idiopathic focal dystonia: a disorder of muscle spindle afferent processing?

Authors:  R A Grünewald; Y Yoneda; J M Shipman; H J Sagar
Journal:  Brain       Date:  1997-12       Impact factor: 13.501

5.  Deficits of temporal discrimination in dystonia are independent from the spatial distance between the loci of tactile stimulation.

Authors:  Michele Tinazzi; Antonio Fiaschi; Emma Frasson; Mirta Fiorio; Feliciana Cortese; Salvatore M Aglioti
Journal:  Mov Disord       Date:  2002-03       Impact factor: 10.338

6.  A high-penetrance form of late-onset torsion dystonia maps to a novel locus (DYT21) on chromosome 2q14.3-q21.3.

Authors:  Nina Norgren; Emma Mattson; Lars Forsgren; Monica Holmberg
Journal:  Neurogenetics       Date:  2011-02-08       Impact factor: 2.660

7.  Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene.

Authors:  H Ichinose; T Ohye; E Takahashi; N Seki; T Hori; M Segawa; Y Nomura; K Endo; H Tanaka; S Tsuji
Journal:  Nat Genet       Date:  1994-11       Impact factor: 38.330

8.  Subtle microstructural changes of the striatum in a DYT1 knock-in mouse model of dystonia.

Authors:  Chang-Hyun Song; Douglas Bernhard; Caroline Bolarinwa; Ellen J Hess; Yoland Smith; H A Jinnah
Journal:  Neurobiol Dis       Date:  2013-01-19       Impact factor: 5.996

Review 9.  Bipolar disorder in idiopathic dystonia: clinical features and possible neurobiology.

Authors:  E C Lauterbach; T E Spears; S T Price
Journal:  J Neuropsychiatry Clin Neurosci       Date:  1992       Impact factor: 2.198

10.  Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study.

Authors:  Susan B Bressman; Deborah Raymond; Tania Fuchs; Gary A Heiman; Laurie J Ozelius; Rachel Saunders-Pullman
Journal:  Lancet Neurol       Date:  2009-04-01       Impact factor: 44.182

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  3 in total

1.  Structure of the Golgi apparatus is not influenced by a GAG deletion mutation in the dystonia-associated gene Tor1a.

Authors:  Sara B Mitchell; Sadahiro Iwabuchi; Hiroyuki Kawano; Tsun Ming Tom Yuen; Jin-Young Koh; K W David Ho; N Charles Harata
Journal:  PLoS One       Date:  2018-11-07       Impact factor: 3.240

2.  Bringing Order to the Twists and Turns of Dystonia.

Authors:  Victor S C Fung
Journal:  Mov Disord Clin Pract       Date:  2019-05-17

3.  The dystonias: past, present, and future.

Authors:  H A Jinnah; Mahlon R Delong; Mark Hallett
Journal:  Mov Disord       Date:  2013-06-15       Impact factor: 10.338

  3 in total

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