David R Hessl

TL;DR: The FMR1 mutations can cause a variety of disabilities, including cognitive deficits, attention-deficit/hyperactivity disorder, autism, and other socioemotional problems, in individuals with the full mutation form (fragile X syndrome).

TL;DR: The most striking finding is the highly significant association between the number of CGG repeats and the numbers of intranuclear inclusions in both neurons and astrocytes, indicating that the CGG repeat is a powerful predictor of neurological involvement in males, both clinically (age of death) and neuropathologically (number of inclusions).

TL;DR: No significant relationship is found between the measures of autism and molecular features, including FMRP, FMRI mRNA, and CGG repeat number, in this cohort of males with fragile X syndrome.

TL;DR: Clinically significant adverse effects were not identified in this study of single dose fenobam across the range of dosages utilised, and the potential beneficial clinical effects seen in this pilot trial support further study of the compound in adults with FXS.

TL;DR: Five female carriers of the FMR1 premutation who presented with symptoms of tremor and ataxia and who received a diagnosis of definite or probable fragile-X-associated tremor/ataxia syndrome (FXTAS) are described.