scholarly journals Age-dependent cognitive impairment in a Drosophila Fragile X model and its pharmacological rescue

2009 ◽  
Vol 11 (3) ◽  
pp. 347-362 ◽  
Author(s):  
Catherine H. Choi ◽  
Sean M. J. McBride ◽  
Brian P. Schoenfeld ◽  
David A. Liebelt ◽  
David Ferreiro ◽  
...  
Keyword(s):  
Cognitive Impairment ◽  
Fragile X ◽  
Age Dependent

scholarly journals Fragile-X-Associated Tremor/Ataxia Syndrome or Alcohol-Induced Cerebellar Degeneration? A Case Report

2020 ◽  
Vol 12 (3) ◽  
pp. 466-471
Author(s):  
Giulia Grigioni ◽  
Christian Saleh ◽  
Phillip Jaszczuk ◽  
Dorothea Wand ◽  
Stefanie Wilmes ◽  
...  
Keyword(s):  
Cognitive Impairment ◽  
Case Report ◽  
Neurodegenerative Disorder ◽  
Fragile X ◽  
Disease Diagnosis ◽  
Cerebellar Degeneration ◽  
Gait Ataxia ◽  
Intention Tremor ◽  
Triplet Expansion ◽  
Ataxia Syndrome

Fragile-X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder that manifests with intention tremor, progressive gait ataxia, and cognitive impairment. The disease is genetically characterized by a premutation of the <i>FMR1</i>gene on the X-chromosome manifesting with a CGG triplet expansion between 55 and 200. Given the phenotypical variety of this disease, diagnosis is frequently delayed. We present and discuss a male patient whose diagnosis of FXTAS was delayed due to his concomitant alcohol abuse.

scholarly journals Fragile X Mental Retardation 1 (FMR1) Intron 1 Methylation in Blood Predicts Verbal Cognitive Impairment in Female Carriers of Expanded FMR1 Alleles: Evidence from a Pilot Study

2012 ◽  
Vol 58 (3) ◽  
pp. 590-598 ◽  
Author(s):  
David E Godler ◽  
Howard R Slater ◽  
Quang M Bui ◽  
Elsdon Storey ◽  
Michele Y Ono ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Cognitive Impairment ◽  
Fragile X ◽  
Cognitive Status ◽  
Verbal Iq ◽  
Fragile X Mental Retardation ◽  
Cpg Sites ◽  
Cgg Repeats ◽  
Intron 1 ◽  
Study Participants

Abstract BACKGROUND Cognitive status in females with mutations in the FMR1 (fragile X mental retardation 1) gene is highly variable. A biomarker would be of value for predicting which individuals were liable to develop cognitive impairment and could benefit from early intervention. A detailed analysis of CpG sites bridging exon 1 and intron 1 of FMR1, known as fragile X–related epigenetic element 2 (FREE2), suggests that a simple blood test could identify these individuals. METHODS Study participants included 74 control females (&lt;40 CGG repeats), 62 premutation (PM) females (55–200 CGG repeats), and 18 full-mutation (FM) females assessed with Wechsler intelligence quotient (IQ) tests. We used MALDI-TOF mass spectrometry to determine the methylation status of FREE2 CpG sites that best identified low-functioning (IQ &lt;70) FM females (&gt;200 CGG repeats), compared the results with those for Southern blot FMR1 activation ratios, and related these assessments to the level of production of the FMR1 protein product in blood. RESULTS A methylation analysis of intron 1 CpG sites 10–12 showed the highest diagnostic sensitivity (100%) and specificity (98%) of all the molecular measures tested for detecting females with a standardized verbal IQ of &lt;70 among the study participants. In the group consisting of only FM females, methylation of these sites was significantly correlated with full-scale IQ, verbal IQ, and performance IQ. Several verbal subtest scores showed strong correlation with the methylation of these sites (P = 1.2 × 10−5) after adjustment for multiple measures. CONCLUSIONS The data suggest that hypermethylation of the FMR1 intron 1 sites in blood is predictive of cognitive impairment in FM females, with implications for improved fragile X syndrome diagnostics in young children and screening of the newborn population.

scholarly journals Age-Dependent Association Between Elevated Homocysteine and Cognitive Impairment in a Post-stroke Population: A Prospective Study

2021 ◽  
Vol 8 ◽  
Author(s):  
Shengnan Zhou ◽  
Jiahao Chen ◽  
Lin Cheng ◽  
Kaili Fan ◽  
Minjie Xu ◽  
...  
Keyword(s):  
Ischemic Stroke ◽  
Cognitive Impairment ◽  
Multivariate Regression Analysis ◽  
Logistic Regression Models ◽  
Post Stroke ◽  
Stroke Population ◽  
Age Dependent ◽  
Independent Association ◽  
A Prospective Study ◽  
State Examination

Background and Purpose: The results regarding the independent association between homocysteine (Hcy) levels and post-stroke cognitive impairment (PSCI) were inconsistent. The effect of age on this association has yet to be explored. This study aims to determine the relationship between Hcy levels, age, and cognitive impairment in a post-stroke population.Methods: A total of 592 patients with acute ischemic stroke (AIS) completed follow-up. Serum Hcy levels were measured enzymatically by spectrophotometry within 24 h of admission. Cognitive function was evaluated by the Mini-Mental State Examination (MMSE) 1 month after stroke, and the scores ≤ 24 were considered as cognitive impairment. Our study was dichotomized into two groups by a cut-off of 65 years. Multivariate logistic regression models were used to determine the association between baseline Hcy levels and cognitive impairment.Results: According to the MMSE score, 317 (53.5%) patients had cognitive impairment. Patients with higher levels of Hcy were more prone to have cognitive impairment 1 month after stroke than patients with lower levels of Hcy (p &lt; 0.001). The optimal cut-off points of Hcy level (μmol/L) were (T1) ≤ 8, (T2) 8–12, and (T3) ≥ 12. After adjusting for confounding factors, the multivariate regression analysis showed that the third Hcy tertile was independently associated with cognitive impairment [odds ratio (OR) = 2.057, 95% confidence interval (CI) = 1.133–3.735, p = 0.018). A stronger association [T2 (OR = 2.266, 95% CI = 1.042–4.926, p = 0.039); T3 (OR =3.583, 95% CI = 1.456–8.818, p = 0.005)] was found in the younger group. However, the independent association was not confirmed in the older group.Conclusions: Elevated Hcy levels in the acute phase of ischemic stroke were independently associated with cognitive impairment in a post-stroke population. Furthermore, the association was age-dependent and more meaningful in a younger population aged below 65. So, Hcy levels in patients with stroke should be well-monitored, especially in younger patients.

P3-209: COGNITIVE IMPAIRMENT IS ASSOCIATED WITH PREMATURE ARTERIAL STIFFENING, AORTIC WALL FIBROSIS AND INCREASED BLOOD PRESSURE: A NOVEL RAT MODEL OF AGE-DEPENDENT VASCULAR DEMENTIA

2006 ◽  
Vol 14 (7S_Part_21) ◽  
pp. P1149-P1150
Author(s):  
Olga V. Fedorova ◽  
Yulia Grigorova ◽  
Madeleine Hagood ◽  
Jeffrey Long ◽  
Ross McDevitt ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Cognitive Impairment ◽  
Vascular Dementia ◽  
Rat Model ◽  
Aortic Wall ◽  
Arterial Stiffening ◽  
Age Dependent

Age-dependent cognitive changes in carriers of the fragile X syndrome

Cortex ◽  
2008 ◽  
Vol 44 (6) ◽  
pp. 628-636 ◽  
Author(s):  
Kim M. Cornish ◽  
Lexin Li ◽  
Cary S. Kogan ◽  
Sebastien Jacquemont ◽  
Jeremy Turk ◽  
...  
Keyword(s):  
Fragile X Syndrome ◽  
Fragile X ◽  
Cognitive Changes ◽  
Age Dependent

Hippocampal dysfunction and cognitive impairment in Fragile-X Syndrome

2016 ◽  
Vol 68 ◽  
pp. 563-574 ◽  
Author(s):  
Crystal Bostrom ◽  
Suk-yu Yau ◽  
Namat Majaess ◽  
Mariana Vetrici ◽  
Joana Gil-Mohapel ◽  
...  
Keyword(s):  
Cognitive Impairment ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Hippocampal Dysfunction

Cognitive Impairment in a 65-year-old Male With the Fragile X-associated Tremor-Ataxia Syndrome (FXTAS)

2006 ◽  
Vol 19 (3) ◽  
pp. 165-171 ◽  
Author(s):  
Jim Grigsby ◽  
Maureen A. Leehey ◽  
S??bastien Jacquemont ◽  
James A. Brunberg ◽  
Randi J. Hagerman ◽  
...  
Keyword(s):  
Cognitive Impairment ◽  
Fragile X ◽  
Ataxia Syndrome

scholarly journals Biobehavioral Indicators of Social Fear in Young Children With Fragile X Syndrome

2013 ◽  
Vol 118 (6) ◽  
pp. 447-459 ◽  
Author(s):  
Bridgette L. Tonnsen ◽  
Svetlana V. Shinkareva ◽  
Sara C. Deal ◽  
Deborah D. Hatton ◽  
Jane E. Roberts
Keyword(s):  
Young Children ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Theoretical Models ◽  
Control Group ◽  
Heart Activity ◽  
Cross Sectional ◽  
Age Dependent ◽  
Distress Vocalizations ◽  
And Behavior

Abstract Anxiety is among the most impairing conditions associated with Fragile X syndrome (FXS) and is putatively linked to atypical physiological arousal. However, few studies have examined this association in young children with FXS. The authors examined whether patterns of arousal and behavior during an experimental stranger approach paradigm differ between a cross-sectional sample of 21 young children with FXS and 19 controls (12–58 months old). Groups did not differ in mean levels of behavioral fear. Unlike the control group, however, the FXS group demonstrated increased facial fear at older ages, as well as age-dependent changes in associations between heart activity and distress vocalizations. These findings may inform theoretical models of anxiety etiology in FXS and early detection efforts.

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