scholarly journals CGG repeat length and AGG interruptions as indicators of fragile X–associated diminished ovarian reserve

2017 ◽  
Vol 20 (9) ◽  
pp. 957-964 ◽  
Author(s):  
Jovana Lekovich ◽  
Limor Man ◽  
Kangpu Xu ◽  
Chelsea Canon ◽  
Debra Lilienthal ◽  
...  
Keyword(s):  
Ovarian Reserve ◽  
Fragile X ◽  
Repeat Length ◽  
Diminished Ovarian Reserve ◽  
Cgg Repeat ◽  
Agg Interruptions

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 FMR1 expression in human granulosa cells increases with exon 1 CGG repeat length depending on ovarian reserve

2018 ◽  
Vol 16 (1) ◽  
Author(s):  
Julia Rehnitz ◽  
Diego D. Alcoba ◽  
Ilma S. Brum ◽  
Jens E. Dietrich ◽  
Berthe Youness ◽  
...  
Keyword(s):  
Granulosa Cells ◽  
Ovarian Reserve ◽  
Repeat Length ◽  
Cgg Repeat ◽  
Human Granulosa Cells ◽  
Exon 1

AMH in women with diminished ovarian reserve: potential differences by FMR1 CGG repeat level

2013 ◽  
Vol 100 (3) ◽  
pp. S159
Author(s):  
L.M. Pastore ◽  
T.L. McMurry ◽  
C.D. Williams ◽  
S.L. Young
Keyword(s):  
Ovarian Reserve ◽  
Diminished Ovarian Reserve ◽  
Cgg Repeat

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

scholarly journals AMH in women with diminished ovarian reserve: potential differences by FMR1 CGG repeat level

2014 ◽  
Vol 31 (10) ◽  
pp. 1295-1301 ◽  
Author(s):  
Lisa M. Pastore ◽  
Timothy L. McMurry ◽  
Christopher D. Williams ◽  
Valerie L. Baker ◽  
Steven L. Young
Keyword(s):  
Ovarian Reserve ◽  
Diminished Ovarian Reserve ◽  
Cgg Repeat
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