Literature DB >> 33604773

Dystonia updates: definition, nomenclature, clinical classification, and etiology.

Karen Grütz1, Christine Klein2.   

Abstract

A plethora of heterogeneous movement disorders is grouped under the umbrella term dystonia. The clinical presentation ranges from isolated dystonia to multi-systemic disorders where dystonia is only a co-occurring sign. In the past, definitions, nomenclature, and classifications have been repeatedly refined, adapted, and extended to reflect novel findings and increasing knowledge about the clinical, etiologic, and scientific background of dystonia. Currently, dystonia is suggested to be classified according to two axes. The first axis offers precise categories for the clinical presentation grouped into age at onset, body distribution, temporal pattern and associated features. The second, etiologic, axis discriminates pathological findings, as well as inheritance patterns, mode of acquisition, or unknown causality. Furthermore, the recent recommendations regarding terminology and nomenclature of inherited forms of dystonia and related syndromes are illustrated in this article. Harmonized, specific, and internationally widely used classifications provide the basis for future systematic dystonia research, as well as for more personalized patient counseling and treatment approaches.

Entities:  

Keywords:  Clinical classification; Disease etiology; Dystonia; Nomenclature

Year:  2021        PMID: 33604773     DOI: 10.1007/s00702-021-02314-2

Source DB:  PubMed          Journal:  J Neural Transm (Vienna)        ISSN: 0300-9564            Impact factor:   3.575


  52 in total

Review 1.  Classification of movement disorders.

Authors:  Stanley Fahn
Journal:  Mov Disord       Date:  2011-05       Impact factor: 10.338

Review 2.  Phenomenology and classification of dystonia: a consensus update.

Authors:  Alberto Albanese; Kailash Bhatia; Susan B Bressman; Mahlon R Delong; Stanley Fahn; Victor S C Fung; Mark Hallett; Joseph Jankovic; Hyder A Jinnah; Christine Klein; Anthony E Lang; Jonathan W Mink; Jan K Teller
Journal:  Mov Disord       Date:  2013-05-06       Impact factor: 10.338

3.  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

4.  Motor and non-motor symptoms in blepharospasm: clinical and pathophysiological implications.

Authors:  Gina Ferrazzano; Isabella Berardelli; Antonella Conte; Viola Baione; Cristina Concolato; Daniele Belvisi; Giovanni Fabbrini; Giovanni Defazio; Alfredo Berardelli
Journal:  J Neurol       Date:  2019-07-29       Impact factor: 4.849

5.  The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene.

Authors:  P C Bull; G R Thomas; J M Rommens; J R Forbes; D W Cox
Journal:  Nat Genet       Date:  1993-12       Impact factor: 38.330

6.  Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia.

Authors:  Tania Fuchs; Sophie Gavarini; Rachel Saunders-Pullman; Deborah Raymond; Michelle E Ehrlich; Susan B Bressman; Laurie J Ozelius
Journal:  Nat Genet       Date:  2009-02-01       Impact factor: 38.330

Review 7.  Isolated dystonia: clinical and genetic updates.

Authors:  Aloysius Domingo; Rachita Yadav; Laurie J Ozelius
Journal:  J Neural Transm (Vienna)       Date:  2020-11-27       Impact factor: 3.575

8.  Risk of spread in adult-onset isolated focal dystonia: a prospective international cohort study.

Authors:  Brian D Berman; Christopher L Groth; Stefan H Sillau; Sarah Pirio Richardson; Scott A Norris; Johanna Junker; Norbert Brüggemann; Pinky Agarwal; Richard L Barbano; Alberto J Espay; Joaquin A Vizcarra; Christine Klein; Tobias Bäumer; Sebastian Loens; Stephen G Reich; Marie Vidailhet; Cecilia Bonnet; Emmanuel Roze; Hyder A Jinnah; Joel S Perlmutter
Journal:  J Neurol Neurosurg Psychiatry       Date:  2019-12-17       Impact factor: 10.154

9.  Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis.

Authors:  Gavin Charlesworth; Vincent Plagnol; Kira M Holmström; Jose Bras; Una-Marie Sheerin; Elisavet Preza; Ignacio Rubio-Agusti; Mina Ryten; Susanne A Schneider; Maria Stamelou; Daniah Trabzuni; Andrey Y Abramov; Kailash P Bhatia; Nicholas W Wood
Journal:  Am J Hum Genet       Date:  2012-11-29       Impact factor: 11.025

10.  Mutations in GNAL cause primary torsion dystonia.

Authors:  Tania Fuchs; Rachel Saunders-Pullman; Ikuo Masuho; Marta San Luciano; Deborah Raymond; Stewart Factor; Anthony E Lang; Tsao-Wei Liang; Richard M Trosch; Sierra White; Edmond Ainehsazan; Denis Hervé; Nutan Sharma; Michelle E Ehrlich; Kirill A Martemyanov; Susan B Bressman; Laurie J Ozelius
Journal:  Nat Genet       Date:  2012-12-09       Impact factor: 38.330

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  3 in total

1.  Untwisting dystonia: stepping-up genetics, shifting pathophysiology, and strategizing care.

Authors:  Raymond L Rosales; Ana Westenberger
Journal:  J Neural Transm (Vienna)       Date:  2021-04-30       Impact factor: 3.575

2.  A mixed-ethnicity myoclonus-dystonia patient with a novel SGCE nonsense mutation: a case report.

Authors:  Meliza Angelica J de Leon; Raymond L Rosales; Christine Klein; Ana Westenberger
Journal:  BMC Neurol       Date:  2022-01-05       Impact factor: 2.474

3.  Development of a patient journey map for people living with cervical dystonia.

Authors:  Monika Benson; Alberto Albanese; Kailash P Bhatia; Pascale Cavillon; Lorraine Cuffe; Kathrin König; Carola Reinhard; Holm Graessner
Journal:  Orphanet J Rare Dis       Date:  2022-03-21       Impact factor: 4.123

  3 in total

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