FXTAS is characterized by intention tremor, gait ataxia, executive function deficits, memory issues, and neuropathy.
FMR1 Premutation
New NIH grant to study language use as potential predictor of neurodegenerative disorder in FMR1 premutation carriers
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.
Marsha R. Mailick, PhD – Slide of the Week
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.
Leann Smith, PhD
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 …
Marsha R. Mailick, PhD
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). …
Fragile X proteins involved in proper neuron development
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.
Merck funds fragile X research at the Waisman Center
Waisman Center investigators Xinyu Zhao, PhD, and Anita Bhattacharyya, PhD, were awarded an $750,000 grant, over three years, from the John Merck Fund to explore a new treatment for fragile X syndrome (FXS) using gene …