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

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 Dementia in Fragile X-associated Tremor/Ataxia Syndrome

2010 ◽  
Vol 4 (1) ◽  
pp. 79-83 ◽  
Author(s):  
Ricardo Nitrini ◽  
Márcia Rúbia R. Gonçalves ◽  
Leonardo P. Capelli ◽  
Egberto Reis Barbosa ◽  
Cláudia Sellitto Porto ◽  
...  
Keyword(s):  
Cognitive Decline ◽  
Fragile X ◽  
Gait Ataxia ◽  
Action Tremor ◽  
Fmr1 Premutation ◽  
Cerebellar Peduncles ◽  
History Of ◽  
Diagnostic Hypothesis ◽  
Ataxia Syndrome ◽  
Lateral Sclerosis

Abstract Fragile X-associated tremor/ataxia syndrome (FXTAS) is a cause of movement disorders and cognitive decline which has probably been underdiagnosed, especially if its prevalence proves similar to those of progressive supranuclear palsy and amyotrophic lateral sclerosis. We report a case of a 74-year-old man who presented with action tremor, gait ataxia and forgetfulness. There was a family history of tremor and dementia, and one of the patient's grandsons was mentally deficient. Neuropsychological evaluation disclosed a frontal network syndrome. MRI showed hyperintensity of both middle cerebellar peduncles, a major diagnostic hallmark of FXTAS. Genetic testing revealed premutation of the FMR1 gene with an expanded (CGG)90 repeat. The diagnosis of FXTAS is important for genetic counseling because the daughters of the affected individuals are at high risk of having offspring with fragile X syndrome. Tremors and cognitive decline should raise the diagnostic hypothesis of FXTAS, which MRI may subsequently reinforce, while the detection of the FMR1 premutation can confirm the condition.

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