scholarly journals 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

2020 ◽  
Vol 7 (7) ◽  
pp. 810-819
Author(s):  
Joan A. O'Keefe ◽  
Deborah Bang ◽  
Erin E. Robertson ◽  
Alexandras Biskis ◽  
Bichun Ouyang ◽  
...  
Keyword(s):  
Clinical Trials ◽  
Outcome Measures ◽  
Upper Limb ◽  
Fragile X ◽  
Fmr1 Premutation ◽  
Ataxia Syndrome

Lovastatin corrects ERK pathway hyperactivation in fragile X syndrome: potential of platelet’s signaling cascades as new outcome measures in clinical trials

Biomarkers ◽  
2016 ◽  
Vol 21 (6) ◽  
pp. 497-508 ◽  
Author(s):  
David Pellerin ◽  
Artuela Çaku ◽  
Mathieu Fradet ◽  
Paméla Bouvier ◽  
Jean Dubé ◽  
...  
Keyword(s):  
Clinical Trials ◽  
Fragile X Syndrome ◽  
Outcome Measures ◽  
Fragile X ◽  
Signaling Cascades ◽  
Erk Pathway

scholarly journals Delineating the Relationships Between Motor, Cognitive-Executive and Psychiatric Symptoms in Female FMR1 Premutation Carriers

2021 ◽  
Vol 12 ◽  
Author(s):  
Darren R. Hocking ◽  
Danuta Z. Loesch ◽  
Paige Stimpson ◽  
Flora Tassone ◽  
Anna Atkinson ◽  
...  
Keyword(s):  
Executive Functioning ◽  
Response Inhibition ◽  
Rating Scales ◽  
Psychiatric Symptoms ◽  
Fragile X ◽  
Fmr1 Premutation ◽  
Symptom Dimensions ◽  
Cgg Repeats ◽  
Cerebellar Peduncles ◽  
Ataxia Syndrome

Introduction: Premutation expansions (55–200 CGG repeats) of the Fragile X Mental Retardation 1 (FMR1) gene on the X chromosome are associated with a range of clinical features. Apart from the most severe - Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) - where the most typical white matter changes affect cerebellar peduncles, more subtle changes may include impairment of executive functioning, affective disorders and/or subtle motor changes. Here we aimed to examine whether performance in selected components of executive functioning is associated with subclinical psychiatric symptoms in non-FXTAS, adult females carrying the FMR1 premutation.Methods and Sample: A total of 47 female premutation carriers (sub-symptomatic for FXTAS) of wide age range (26–77 years; M = 50.3; SD = 10.9) were assessed using standard neuropsychological tests, three motor rating scales and self-reported measures of psychiatric symptoms using the Symptom Checklist-90-Revised (SCL-90-R).Results: After adjusting for age and educational level where appropriate, both non-verbal reasoning and response inhibition as assessed on the Stroop task (i.e., the ability to resolve cognitive interference) were associated with a range of primary psychiatric symptom dimensions, and response inhibition uniquely predicted some primary symptoms and global psychiatric features. Importantly, lower scores (worse performance) in response inhibition were also strongly correlated with higher (worse) scores on standard motor rating scales for tremor-ataxia and for parkinsonism.Conclusion: These results provide evidence for the importance of response inhibition in the manifestation of psychiatric symptoms and subtle tremor-ataxia motor features, suggestive of the presence of early cerebellar changes in female premutation carriers.

Brain structure in asymptomatic FMR1 premutation carriers at risk for fragile X-associated tremor/ataxia syndrome

2013 ◽  
Vol 34 (6) ◽  
pp. 1700-1707 ◽  
Author(s):  
Giovanni Battistella ◽  
Julien Niederhauser ◽  
Eleonora Fornari ◽  
Loyse Hippolyte ◽  
Aline Gronchi Perrin ◽  
...  
Keyword(s):  
At Risk ◽  
Brain Structure ◽  
Fragile X ◽  
Fmr1 Premutation ◽  
Ataxia Syndrome

scholarly journals FMR1 premutation with Prader-Willi phenotype and fragile X-associated tremor/ataxia syndrome

2017 ◽  
Vol 5 (5) ◽  
pp. 625-629 ◽  
Author(s):  
Verónica Martínez-Cerdeño ◽  
Mirna Lechpammer ◽  
Stephen Noctor ◽  
Jeanelle Ariza ◽  
Paul Hagerman ◽  
...  
Keyword(s):  
Fragile X ◽  
Fmr1 Premutation ◽  
Ataxia Syndrome

scholarly journals Outcome Measures for Clinical Trials in Fragile X Syndrome

2013 ◽  
Vol 34 (7) ◽  
pp. 508-522 ◽  
Author(s):  
Elizabeth Berry-Kravis ◽  
David Hessl ◽  
Leonard Abbeduto ◽  
Allan L. Reiss ◽  
Andrea Beckel-Mitchener ◽  
...  
Keyword(s):  
Clinical Trials ◽  
Fragile X Syndrome ◽  
Outcome Measures ◽  
Fragile X

scholarly journals CRISPR to the Rescue: Advances in Gene Editing for the FMR1 Gene

2019 ◽  
Vol 9 (1) ◽  
pp. 17 ◽  
Author(s):  
Carolyn Yrigollen ◽  
Beverly Davidson
Keyword(s):  
Clinical Trials ◽  
Fragile X Syndrome ◽  
Gene Editing ◽  
Therapeutic Strategy ◽  
Therapeutic Potential ◽  
Fragile X ◽  
Genetic Disorders ◽  
Treatment Strategies ◽  
Gene Pathway ◽  
Ataxia Syndrome

Gene-editing using Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) is promising as a potential therapeutic strategy for many genetic disorders. CRISPR-based therapies are already being assessed in clinical trials, and evaluation of this technology in Fragile X syndrome has been performed by a number of groups. The findings from these studies and the advancement of CRISPR-based technologies are insightful as the field continues towards treatments and cures of Fragile X-Associated Disorders (FXADs). In this review, we summarize reports using CRISPR-editing strategies to target Fragile X syndrome (FXS) molecular dysregulation, and highlight how differences in FXS and Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) might alter treatment strategies for each syndrome. We discuss the various modifications and evolutions of the CRISPR toolkit that expand its therapeutic potential, and other considerations for moving these strategies from bench to bedside. The rapidly growing field of CRISPR therapeutics is providing a myriad of approaches to target a gene, pathway, or transcript for modification. As cures for FXADs have remained elusive, CRISPR opens new avenues to pursue.

Characterization of Potential Outcome Measures for Future Clinical Trials in Fragile X Syndrome

2008 ◽  
Vol 38 (9) ◽  
pp. 1751-1757 ◽  
Author(s):  
Elizabeth Berry-Kravis ◽  
Allison Sumis ◽  
Ok-Kyung Kim ◽  
Rebecca Lara ◽  
Joanne Wuu
Keyword(s):  
Clinical Trials ◽  
Fragile X Syndrome ◽  
Outcome Measures ◽  
Fragile X ◽  
Potential Outcome

scholarly journals Fragile-X–Associated Tremor/Ataxia Syndrome (FXTAS) in Females with the FMR1 Premutation

2004 ◽  
Vol 74 (5) ◽  
pp. 1051-1056 ◽  
Author(s):  
R.J. Hagerman ◽  
B.R. Leavitt ◽  
F. Farzin ◽  
S. Jacquemont ◽  
C.M. Greco ◽  
...  
Keyword(s):  
Fragile X ◽  
Fmr1 Premutation ◽  
Ataxia Syndrome
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