Catarina Silva, MSc,  —

Mavoglurant (AFQ056), a candidate for the treatment of fragile X syndrome (FXS), restored functionality in sensory networks but failed to do so in a cognition-related brain region in a mouse model of the disease, recent study shows. The research, “Inhibiting mGluR5 activity by AFQ056/Mavoglurant rescues circuit-specific functional…

Given the genetic variability behind the disease, current clinical diagnostic criteria for fragile X-linked tremor/ataxia syndrome do not accurately detect late-onset ataxia (abnormal, uncoordinated movements), a study suggests. The research, “Low Diagnostic Accuracy of Fragile X Tremor/Ataxia Syndrome Diagnostic Criteria in Late Onset Ataxia” was published as a…

An older existing medication that targets a pathway thought to be involved in fragile X syndrome failed to reverse any behavioral characteristics in mouse models of the disease, and was found to further compromise social skills in the mice. The therapy, rapamycin (also called sirolimus, brand name Rapamune),…