scholarly journals Adult Female Fragile X Premutation Carriers Exhibit Age- and CGG Repeat Length-Related Impairments on an Attentionally Based Enumeration Task

2011 ◽  
Vol 5 ◽  
Author(s):  
Naomi J. Goodrich-Hunsaker ◽  
Ling M. Wong ◽  
Yingratana McLennan ◽  
Flora Tassone ◽  
Danielle Harvey ◽  
...  
Keyword(s):  
Adult Female ◽  
Fragile X ◽  
Repeat Length ◽  
Cgg Repeat ◽  
Fragile X Premutation ◽  
Enumeration Task

CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS)

2007 ◽  
Vol 144B (4) ◽  
pp. 566-569 ◽  
Author(s):  
Flora Tassone ◽  
John Adams ◽  
Elizabeth M. Berry-Kravis ◽  
Susannah S. Cohen ◽  
Alfredo Brusco ◽  
...  
Keyword(s):  
Age Of Onset ◽  
Fragile X ◽  
Repeat Length ◽  
Cgg Repeat ◽  
Ataxia Syndrome

scholarly journals CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome

2008 ◽  
Vol 107 (6) ◽  
pp. 1671-1682 ◽  
Author(s):  
Judith R. Brouwer ◽  
Karin Huizer ◽  
Lies-Anne Severijnen ◽  
Renate K. Hukema ◽  
Robert F. Berman ◽  
...  
Keyword(s):  
Mouse Model ◽  
Fragile X ◽  
Repeat Length ◽  
Cgg Repeat ◽  
Ataxia Syndrome

scholarly journals Family history of FXTAS is associated with age-related cognitive-linguistic decline among mothers with the FMR1 premutation

2022 ◽  
Vol 14 (1) ◽  
Author(s):  
Jessica Klusek ◽  
Amanda Fairchild ◽  
Carly Moser ◽  
Marsha R. Mailick ◽  
Angela John Thurman ◽  
...  
Keyword(s):  
Family History ◽  
Neurodegenerative Disease ◽  
Cognitive Skills ◽  
Fragile X ◽  
Repeat Length ◽  
Syntactic Complexity ◽  
Cgg Repeat ◽  
Age Related ◽  
Increased Risk ◽  
History Of

Abstract Background Women who carry a premutation allele of the FMR1 gene are at increased vulnerability to an array of age-related symptoms and disorders, including age-related decline in select cognitive skills. However, the risk factors for age-related decline are poorly understood, including the potential role of family history and genetic factors. In other forms of pathological aging, early decline in syntactic complexity is observed and predicts the later onset of neurodegenerative disease. To shed light on the earliest signs of degeneration, the present study characterized longitudinal changes in the syntactic complexity of women with the FMR1 premutation across midlife, and associations with family history of fragile X-associated tremor/ataxia syndrome (FXTAS) and CGG repeat length. Methods Forty-five women with the FMR1 premutation aged 35–64 years at study entry participated in 1–5 longitudinal assessments spaced approximately a year apart (130 observations total). All participants were mothers of children with confirmed fragile X syndrome. Language samples were analyzed for syntactic complexity and participants provided information on family history of FXTAS. CGG repeat length was determined via molecular genetic testing. Results Hierarchical linear models indicated that women who reported a family history of FXTAS exhibited faster age-related decline in syntactic complexity than those without a family history, with that difference emerging as the women reached their mid-50 s. CGG repeat length was not a significant predictor of age-related change. Conclusions Results suggest that women with the FMR1 premutation who have a family history of FXTAS may be at increased risk for neurodegenerative disease, as indicated by age-related loss of syntactic complexity. Thus, family history of FXTAS may represent a personalized risk factor for age-related disease. Follow-up study is needed to determine whether syntactic decline is an early indicator of FXTAS specifically, as opposed to being a more general age-related cognitive decline associated with the FMR1 premutation.

scholarly journals Is there a CGG repeat threshold to predict the risk of occult premature ovarian failure in fragile X premutation carriers?

2019 ◽  
Vol 111 (4) ◽  
pp. e22-e23
Author(s):  
S. Chang ◽  
L. Sekhon ◽  
D. Gounko ◽  
J.A. Lee ◽  
T. Mukherjee ◽  
...  
Keyword(s):  
Premature Ovarian Failure ◽  
Fragile X ◽  
Ovarian Failure ◽  
Cgg Repeat ◽  
Fragile X Premutation

scholarly journals Enhanced Manual and Oral Motor Reaction Time in Young Adult Female Fragile X Premutation Carriers

2011 ◽  
Vol 17 (4) ◽  
pp. 746-750 ◽  
Author(s):  
Naomi J. Goodrich-Hunsaker ◽  
Ling M. Wong ◽  
Yingratana McLennan ◽  
Flora Tassone ◽  
Danielle Harvey ◽  
...  
Keyword(s):  
Reaction Time ◽  
Visual Information ◽  
Motor Response ◽  
Fragile X ◽  
Reaction Times ◽  
Mrna Levels ◽  
Motor Reaction ◽  
Cgg Repeat ◽  
Oral Motor ◽  
Fragile X Premutation

AbstractA previous study reported preliminary results of enhanced processing of simple visual information in the form of faster reaction times, in female fragile X premutation carriers (fXPCs). In this study, we assessed manual and oral motor reaction times in 30 female fXPCs and 20 neurotypical (NT) controls. Participants completed two versions of the reaction time task; one version required a manual motor response and the other version required an oral motor response. Results revealed that the female fXPCs displayed faster reaction times for both manual and oral motor responses relative to NT controls. Molecular measures including CGG repeat length, FMR1 mRNA levels, and age were not associated with performance in either group. Given previously reported age and CGG repeat modulated performance on a magnitude comparison task in this same group of premutation carriers, results from the current study seem to suggest that female fXPCs may have spared basic psychomotor functionality. (JINS, 2011, 17, 746–750)

scholarly journals Young adult female fragile X premutation carriers show age- and genetically-modulated cognitive impairments

2011 ◽  
Vol 75 (3) ◽  
pp. 255-260 ◽  
Author(s):  
Naomi J. Goodrich-Hunsaker ◽  
Ling M. Wong ◽  
Yingratana McLennan ◽  
Siddharth Srivastava ◽  
Flora Tassone ◽  
...  
Keyword(s):  
Young Adult ◽  
Adult Female ◽  
Fragile X ◽  
Cognitive Impairments ◽  
Fragile X Premutation
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