Advancing knowledge of human development, developmental disabilities, and neurodegenerative diseases.
FXTAS is characterized by intention tremor, gait ataxia, executive function deficits, memory issues, and neuropathy.
A new study will investigate if language differences can predict the development of a neurodegenerative disorder in people that carry a premutation of the gene FMR1.
The FMR1 premutation is of increasing interest to the fragile X syndrome (FXS) community, as questions about a primary premutation phenotype warrant research attention. One hundred FMR1 premutation carrier mothers (mean age = 58; 67 to 138 CGG repeats) of adults with fragile X syndrome were studied with respect to their physical and mental health, and motor and neurocognitive characteristics.
Title: Age at menopause by CGG repeat length Legend: There was a significant curvilinear association between CGG repeat length and age at menopause (b = .003, p < .01). Neither maternal education nor smoking history was significantly associated with age at menopause. The effect remained significant even after the case with 180 CGG repeats was …
Legend: Fig. 1. Frequency of specific CGG repeat lengths >40 for men and women. Citation: Maenner MJ, Baker MW, Broman KW, Tian J, Barnes JK, Atkins A, McPherson E, Hong J, Brilliant MH, Mailick MR. (2013). FMR1 CGG expansions: prevalence and sex ratios. American Journal of MedicalGenetics Part B: Neuropsychiatric Genetics. 162B(5):466-73. Abstract: We have estimated …
Fragile X syndrome is the most common inherited intellectual disability and the greatest single genetic contributor to autism. Unlocking the mechanisms behind fragile X could make important revelations about the brain.
