Literature DB >> 18685824

[Dystonia].

A Schmidt1, S A Schneider, J Hagenah, C Klein.   

Abstract

Dystonia, a hyperkinetic movement disorder, is characterized by involuntary muscle spasms leading to abnormal postures. Dystonic syndromes are classified by etiology (primary vs. secondary), age of onset (early vs. late onset) or spread of symptoms (focal, segmental, generalized). Clinically, young-onset dystonia is rare, often inherited and tends to spread to become generalized. In contrast, adult-onset dystonia is frequent, typically sporadic and remains focal. In recent years, 15 genes associated with dystonia have been identified and classified as DYT loci. Of these, DYT1 is the most frequent, causing early-onset generalized dystonia. Pathophysiology remains ill understood but basal ganglia dysfunction is thought to play an important role. Treatment remains symptom-oriented. A trial of levodopa is recommended in young-onset cases. In focal forms, botulinum toxin injections are helpful. Anticholinergics may be beneficial. In severe cases deep brain stimulation may be considered.

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Year:  2008        PMID: 18685824     DOI: 10.1007/s00115-008-2460-z

Source DB:  PubMed          Journal:  Nervenarzt        ISSN: 0028-2804            Impact factor:   1.214


  18 in total

Review 1.  Pathophysiology of dystonia.

Authors:  M Hallett
Journal:  J Neural Transm Suppl       Date:  2006

2.  The DYT1 phenotype and guidelines for diagnostic testing.

Authors:  S B Bressman; C Sabatti; D Raymond; D de Leon; C Klein; P L Kramer; M F Brin; S Fahn; X Breakefield; L J Ozelius; N J Risch
Journal:  Neurology       Date:  2000-05-09       Impact factor: 9.910

Review 3.  Movement disorders: classifications.

Authors:  C Klein
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

4.  Pallidal deep-brain stimulation in primary generalized or segmental dystonia.

Authors:  Andreas Kupsch; Reiner Benecke; Jörg Müller; Thomas Trottenberg; Gerd-Helge Schneider; Werner Poewe; Wilhelm Eisner; Alexander Wolters; Jan-Uwe Müller; Günther Deuschl; Marcus O Pinsker; Inger Marie Skogseid; Geir Ketil Roeste; Juliane Vollmer-Haase; Angela Brentrup; Martin Krause; Volker Tronnier; Alfons Schnitzler; Jürgen Voges; Guido Nikkhah; Jan Vesper; Markus Naumann; Jens Volkmann
Journal:  N Engl J Med       Date:  2006-11-09       Impact factor: 91.245

5.  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

6.  Linkage mapping of dopa-responsive dystonia (DRD) to chromosome 14q.

Authors:  T G Nygaard; K C Wilhelmsen; N J Risch; D L Brown; J M Trugman; T C Gilliam; S Fahn; D E Weeks
Journal:  Nat Genet       Date:  1993-12       Impact factor: 38.330

Review 7.  The pathophysiological basis of dystonias.

Authors:  Xandra O Breakefield; Anne J Blood; Yuqing Li; Mark Hallett; Phyllis I Hanson; David G Standaert
Journal:  Nat Rev Neurosci       Date:  2008-03       Impact factor: 34.870

8.  The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene.

Authors:  Allison Brashear; William B Dobyns; Patricia de Carvalho Aguiar; Michel Borg; C J M Frijns; Seema Gollamudi; Andrew Green; João Guimaraes; Bret C Haake; Christine Klein; Gurutz Linazasoro; Alexander Münchau; Deborah Raymond; David Riley; Rachel Saunders-Pullman; Marina A J Tijssen; David Webb; Jacek Zaremba; Susan B Bressman; Laurie J Ozelius
Journal:  Brain       Date:  2007-02-04       Impact factor: 13.501

9.  Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia.

Authors:  Birgitt Müller; Katja Hedrich; Norman Kock; Natasa Dragasevic; Marina Svetel; Jennifer Garrels; Olfert Landt; Matthias Nitschke; Peter P Pramstaller; Wolf Reik; Eberhard Schwinger; Jürgen Sperner; Laurie Ozelius; Vladimir Kostic; Christine Klein
Journal:  Am J Hum Genet       Date:  2002-11-20       Impact factor: 11.025

10.  Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.

Authors:  Patricia de Carvalho Aguiar; Kathleen J Sweadner; John T Penniston; Jacek Zaremba; Liu Liu; Marsha Caton; Gurutz Linazasoro; Michel Borg; Marina A J Tijssen; Susan B Bressman; William B Dobyns; Allison Brashear; Laurie J Ozelius
Journal:  Neuron       Date:  2004-07-22       Impact factor: 17.173

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  1 in total

1.  [Anesthesia in patients with dopa-responsive dystonia (Segawa syndrome) : Presentation of the pathophysiology, clinical picture and approach based on two case reports].

Authors:  K Groß; S Kleinschmidt
Journal:  Anaesthesist       Date:  2020-12-08       Impact factor: 1.041

  1 in total

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