Literature DB >> 30838310

Clinimetric Properties of the Fragile X-associated Tremor Ataxia Syndrome Rating Scale.

Deborah A Hall1, Glenn T Stebbins1, Sebastien Jacquemont2, Elizabeth Berry-Kravis1,3, Christopher G Goetz1, Randi Hagerman4, Lin Zhang5, Maureen A Leehey6.   

Abstract

BACKGROUND: There are currently no proven treatments for fragile X-associated tremor and ataxia syndrome (FXTAS). Validated outcome measures are needed in order to plan and conduct clinical trials to aid in the development of therapy.
METHODS: This study examined the reliability and construct validity of the FXTAS Rating Scale. The study was conducted by using ratings from movement disorder specialists, who were blinded to gene status, on the FXTAS Rating Scale.
RESULTS: In 295 premutation carriers with and without FXTAS, 33 scale items showed a high level of overall reliability, adequate item-to-total correlations and construct validity. Factor analysis revealed four components.
CONCLUSIONS: The result demonstrates that many items in the scale meet standard clinimetric criteria, but modification of the scale improved the overall utility.

Entities:  

Keywords:  FMR1; FXTAS Rating Scale; Fragile X‐associated tremor ataxia syndrome

Year:  2019        PMID: 30838310      PMCID: PMC6384171          DOI: 10.1002/mdc3.12708

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN: 2330-1619


  9 in total

1.  Estimation of IRT graded response models: limited versus full information methods.

Authors:  Carlos G Forero; Alberto Maydeu-Olivares
Journal:  Psychol Methods       Date:  2009-09

2.  Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS).

Authors:  D A Hall; E Berry-Kravis; S Jacquemont; C D Rice; J Cogswell; L Zhang; R J Hagerman; P J Hagerman; M A Leehey
Journal:  Neurology       Date:  2005-07-26       Impact factor: 9.910

3.  Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction.

Authors:  James A Brunberg; Sebastien Jacquemont; Randi J Hagerman; Elizabeth M Berry-Kravis; Jim Grigsby; Maureen A Leehey; Flora Tassone; W Ted Brown; Claudia M Greco; Paul J Hagerman
Journal:  AJNR Am J Neuroradiol       Date:  2002 Nov-Dec       Impact factor: 3.825

4.  International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome. The Ataxia Neuropharmacology Committee of the World Federation of Neurology.

Authors:  P Trouillas; T Takayanagi; M Hallett; R D Currier; S H Subramony; K Wessel; A Bryer; H C Diener; S Massaquoi; C M Gomez; P Coutinho; M Ben Hamida; G Campanella; A Filla; L Schut; D Timann; J Honnorat; N Nighoghossian; B Manyam
Journal:  J Neurol Sci       Date:  1997-02-12       Impact factor: 3.181

5.  Progression of tremor and ataxia in male carriers of the FMR1 premutation.

Authors:  Maureen A Leehey; Elizabeth Berry-Kravis; Sung-Joon Min; Deborah A Hall; Cathlin D Rice; Lin Zhang; Jim Grigsby; Claudia M Greco; Ann Reynolds; Rebecca Lara; Jennifer Cogswell; Sebastien Jacquemont; David R Hessl; Flora Tassone; Randi Hagerman; Paul J Hagerman
Journal:  Mov Disord       Date:  2007-01-15       Impact factor: 10.338

6.  FXTAS: new insights and the need for revised diagnostic criteria.

Authors:  Emmanuelle Apartis; Anne Blancher; Wassilios G Meissner; Lucie Guyant-Maréchal; David Maltête; Thomas De Broucker; André-Pierre Legrand; Hichem Bouzenada; Hung Tran Thanh; Magali Sallansonnet-Froment; Adrien Wang; François Tison; Carole Roué-Jagot; Frédéric Sedel; Perrine Charles; Sandra Whalen; Delphine Héron; Stéphane Thobois; Alice Poisson; Gaetan Lesca; Anne-Marie Ouvrard-Hernandez; Valérie Fraix; Stephane Palfi; Marie-Odile Habert; Bertrand Gaymard; Jean-Claude Dussaule; Pierre Pollak; Marie Vidailhet; Alexandra Durr; Jean-Claude Barbot; Véronique Gourlet; Alexis Brice; Mathieu Anheim
Journal:  Neurology       Date:  2012-10-17       Impact factor: 9.910

7.  Unified Huntington's Disease Rating Scale: reliability and consistency. Huntington Study Group.

Authors: 
Journal:  Mov Disord       Date:  1996-03       Impact factor: 10.338

8.  Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates.

Authors:  Sébastien Jacquemont; Randi J Hagerman; Maureen Leehey; Jim Grigsby; Lin Zhang; James A Brunberg; Claudia Greco; Vincent Des Portes; Tristan Jardini; Richard Levine; Elizabeth Berry-Kravis; W Ted Brown; Stephane Schaeffer; John Kissel; Flora Tassone; Paul J Hagerman
Journal:  Am J Hum Genet       Date:  2003-03-12       Impact factor: 11.025

9.  FMR1 CGG repeat length predicts motor dysfunction in premutation carriers.

Authors:  M A Leehey; E Berry-Kravis; C G Goetz; L Zhang; D A Hall; L Li; C D Rice; R Lara; J Cogswell; A Reynolds; L Gane; S Jacquemont; F Tassone; J Grigsby; R J Hagerman; P J Hagerman
Journal:  Neurology       Date:  2007-12-05       Impact factor: 9.910

  9 in total
  8 in total

1.  Prodromal Markers of Upper Limb Deficits in FMR1 Premutation Carriers and Quantitative Outcome Measures for Future Clinical Trials in Fragile X-associated Tremor/Ataxia Syndrome.

Authors:  Joan A O'Keefe; Deborah Bang; Erin E Robertson; Alexandras Biskis; Bichun Ouyang; Yuanqing Liu; Gian Pal; Elizabeth Berry-Kravis; Deborah A Hall
Journal:  Mov Disord Clin Pract       Date:  2020-08-29

2.  Placebo Response in Fragile X-associated Tremor/Ataxia Syndrome.

Authors:  Emily J Hill; Christopher G Goetz; Glenn T Stebbins; Randi Hagerman; Bichun Ouyang; Deborah A Hall
Journal:  Mov Disord Clin Pract       Date:  2020-03-04

3.  The Phenotypic Profile Associated With the FMR1 Premutation in Women: An Investigation of Clinical-Behavioral, Social-Cognitive, and Executive Abilities.

Authors:  Nell Maltman; Janna Guilfoyle; Kritika Nayar; Gary E Martin; Molly Winston; Joseph C Y Lau; Lauren Bush; Shivani Patel; Michelle Lee; John Sideris; Deborah A Hall; Lili Zhou; Kevin Sharp; Elizabeth Berry-Kravis; Molly Losh
Journal:  Front Psychiatry       Date:  2021-08-06       Impact factor: 5.435

4.  Optimal time lags from causal prediction model help stratify and forecast nervous system pathology.

Authors:  Theodoros Bermperidis; Richa Rai; Jihye Ryu; Damiano Zanotto; Sunil K Agrawal; Anil K Lalwani; Elizabeth B Torres
Journal:  Sci Rep       Date:  2021-10-22       Impact factor: 4.379

5.  Fragile X-associated tremor ataxia syndrome rating scale: Revision and content validity using a mixed method approach.

Authors:  Michelle H S Tosin; Glenn T Stebbins; Christopher G Goetz; Randi J Hagerman; David Hessl; Melissa A Zolecki; Peter K Todd; Maureen A Leehey; Deborah A Hall
Journal:  Front Neurol       Date:  2022-09-14       Impact factor: 4.086

6.  Tremorography in fragile X-associated tremor/ataxia syndrome, Parkinson's disease and essential tremor.

Authors:  Erin E Robertson; Deborah A Hall; Gian Pal; Bichun Ouyang; Yuanqing Liu; Jessica M Joyce; Elizabeth Berry-Kravis; Joan A O'Keefe
Journal:  Clin Park Relat Disord       Date:  2020-01-23

7.  Characterization of the Cerebrospinal Fluid Proteome in Patients with Fragile X-Associated Tremor/Ataxia Syndrome.

Authors:  Diana A Abbasi; Thu T A Nguyen; Deborah A Hall; Erin Robertson-Dick; Elizabeth Berry-Kravis; Stephanie M Cologna
Journal:  Cerebellum       Date:  2021-05-27       Impact factor: 3.847

8.  Mild Neurological Signs in FMR1 Premutation Women in an Unselected Community-Based Cohort.

Authors:  Marsha R Mailick; Jinkuk Hong; Arezoo Movaghar; Leann DaWalt; Elizabeth M Berry-Kravis; Murray H Brilliant; Jaime Boero; Peter K Todd; Deborah Hall
Journal:  Mov Disord       Date:  2021-06-12       Impact factor: 9.698

  8 in total

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