Literature DB >> 27287737

Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers.

Deborah A Hall1, Erin Robertson2, Annie L Shelton3, Molly C Losh4, Montserrat Mila5, Esther Granell Moreno6,7, Beatriz Gomez-Anson6,7,8, Verónica Martínez-Cerdeño9, Jim Grigsby10, Reymundo Lozano11, Randi Hagerman12, Lorena Santa Maria13, Elizabeth Berry-Kravis1,14, Joan A O'Keefe15,16.   

Abstract

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive neurodegenerative disorder caused by a repeat expansion in the fragile X mental retardation 1 (FMR1) gene. The disorder is characterized by kinetic tremor and cerebellar ataxia, shows age-dependent penetrance, and occurs more frequently in men. This paper summarizes the key emerging issues in FXTAS as presented at the Second International Conference on the FMR1 Premutation: Basic Mechanisms & Clinical Involvement in 2015. The topics discussed include phenotype-genotype relationships, neurobehavioral function, and updates on FXTAS genetics and imaging.

Entities:  

Keywords:  Cognition; FMR1 genetics; FMR1 premutation; Fragile X-associated tremor/ataxia syndrome (FXTAS); Neuroimaging

Mesh：

Substances：

Year:  2016        PMID： 27287737      PMCID： PMC7608648          DOI： 10.1007/s12311-016-0799-4

Source DB:  PubMed          Journal:  Cerebellum        ISSN： 1473-4222            Impact factor:   3.847


  52 in total

1.  A semiquantative rating scale for the assessment of signal hyperintensities on magnetic resonance imaging.

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Journal:  J Neurol Sci       Date:  1993-01       Impact factor: 3.181

Review 2.  Clinical research criteria for the diagnosis of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome): report of the NINDS-SPSP international workshop.

Authors:  I Litvan; Y Agid; D Calne; G Campbell; B Dubois; R C Duvoisin; C G Goetz; L I Golbe; J Grafman; J H Growdon; M Hallett; J Jankovic; N P Quinn; E Tolosa; D S Zee
Journal:  Neurology       Date:  1996-07       Impact factor: 9.910

3.  Normative spatiotemporal gait parameters in older adults.

Authors:  John H Hollman; Eric M McDade; Ronald C Petersen
Journal:  Gait Posture       Date:  2011-04-29       Impact factor: 2.840

Review 4.  Allopregnanolone as regenerative therapeutic for Alzheimer's disease: translational development and clinical promise.

Authors:  Ronald W Irwin; Roberta Diaz Brinton
Journal:  Prog Neurobiol       Date:  2013-09-14       Impact factor: 11.685

5.  Co-occurring conditions associated with FMR1 gene variations: findings from a national parent survey.

Authors:  Donald B Bailey; Melissa Raspa; Murrey Olmsted; David B Holiday
Journal:  Am J Med Genet A       Date:  2008-08-15       Impact factor: 2.802

6.  Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders.

Authors:  C Lord; M Rutter; A Le Couteur
Journal:  J Autism Dev Disord       Date:  1994-10

7.  Skewed X Inactivation in Women Carrying the FMR1 Premutation and Its Relation with Fragile-X-Associated Tremor/Ataxia Syndrome.

Authors:  Maria Isabel Alvarez-Mora; Laia Rodriguez-Revenga; Aina Feliu; Celia Badenas; Irene Madrigal; Montserrat Milà
Journal:  Neurodegener Dis       Date:  2015-11-27       Impact factor: 2.977

8.  High-resolution methylation polymerase chain reaction for fragile X analysis: evidence for novel FMR1 methylation patterns undetected in Southern blot analyses.

Authors:  Liangjing Chen; Andrew Hadd; Sachin Sah; Jeffrey F Houghton; Stela Filipovic-Sadic; Wenting Zhang; Paul J Hagerman; Flora Tassone; Gary J Latham
Journal:  Genet Med       Date:  2011-06       Impact factor: 8.822

9.  Hyperintense putaminal rim at 1.5 T: prevalence in normal subjects and distinguishing features from multiple system atrophy.

Authors:  Khin K Tha; Satoshi Terae; Akiko Tsukahara; Hiroyuki Soma; Ryo Morita; Ichiro Yabe; Yoichi M Ito; Hidenao Sasaki; Hiroki Shirato
Journal:  BMC Neurol       Date:  2012-06-18       Impact factor: 2.474

Review 10.  The cognitive neuropsychological phenotype of carriers of the FMR1 premutation.

Authors:  Jim Grigsby; Kim Cornish; Darren Hocking; Claudine Kraan; John M Olichney; Susan M Rivera; Andrea Schneider; Stephanie Sherman; Jun Yi Wang; Jin-Chen Yang
Journal:  J Neurodev Disord       Date:  2014-07-30       Impact factor: 4.025
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  22 in total

Review 1.  General Anesthetic Use in Fragile X Spectrum Disorders.

Authors:  Andrew Ligsay; Marwa El-Deeb; Maria J Salcedo-Arellano; Nina Schloemerkemper; Jeremy S Grayson; Randi Hagerman
Journal:  J Neurosurg Anesthesiol       Date:  2019-07       Impact factor: 3.956

Review 2.  [Fragile X associated tremor/ataxia syndrome: its clinical presentation, pathology, and treatment].

Authors:  M J Salcedo-Arellano; R J Hagerman; V Martinez-Cerdeno
Journal:  Rev Neurol       Date:  2019-03-01       Impact factor: 0.870

3.  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

Review 4.  Conventional MRI findings in hereditary degenerative ataxias: a pictorial review.

Authors:  Sirio Cocozza; Giuseppe Pontillo; Giovanna De Michele; Martina Di Stasi; Elvira Guerriero; Teresa Perillo; Chiara Pane; Anna De Rosa; Lorenzo Ugga; Arturo Brunetti
Journal:  Neuroradiology       Date:  2021-03-17       Impact factor: 2.804

5.  Verbal inhibition declines among older women with high FMR1 premutation expansions: A prospective study.

Authors:  Nell Maltman; Jessica Klusek; Leann DaWalt; Jinkuk Hong; Audra Sterling; Elizabeth Berry-Kravis; Marsha R Mailick
Journal:  Brain Cogn       Date:  2022-03-10       Impact factor: 2.682

6.  Age-related functional brain changes in FMR1 premutation carriers.

Authors:  Stephanie S G Brown; Shinjini Basu; Heather C Whalley; Peter C Kind; Andrew C Stanfield
Journal:  Neuroimage Clin       Date:  2017-12-09       Impact factor: 4.881

7.  The Effects of Dual Task Cognitive Interference and Fast-Paced Walking on Gait, Turns, and Falls in Men and Women with FXTAS.

Authors:  Joan A O'Keefe; Joseph Guan; Erin Robertson; Alexandras Biskis; Jessica Joyce; Bichun Ouyang; Yuanqing Liu; Danielle Carnes; Nicollette Purcell; Elizabeth Berry-Kravis; Deborah A Hall
Journal:  Cerebellum       Date:  2020-10-28       Impact factor: 3.847

8.  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

9.  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

10.  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
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