Marta Figueiredo, PhD, science writer —

The function and components of mitochondria — the cells’ powerhouses — are significantly reduced in the cerebral cortex and in neuron-supporting cells of a mouse model of fragile X syndrome, a study shows. In addition, these mitochondrial abnormalities were associated with lower levels of mitochondrial components inside small fatty…

Women carrying so-called premutations in FMR1, the gene associated with fragile X syndrome, are at risk of developing autistic traits and anxiety, according to a new study in the U.K. Premutation carriers have an expansion of three nucleotides — the building blocks of DNA — in the FMR1 gene. This…

The first wave of COVID-19 in Europe severely disrupted access to care and raised stress and anxiety in people with rare diseases, negatively affecting their health and well-being, according to a survey conducted by Eurordis-Rare Diseases Europe. “People living with rare diseases in Europe have found themselves caught as collateral…

Long-term, but not short-term, treatment with bryostatin-1 — Neurotrope’s lead investigational therapy — arrested such behavioral and cognitive symptoms as hyperactivity, difficulties with daily life activities, and learning and memory deficits in a mouse model of fragile X syndrome. These long-term effects are distinct from those seen…

The Australian Medical Services Advisory Committee (MSAC) has recommended that the costs of screening for mutations known to cause cystic fibrosis (CF), spinal muscular atrophy (SMA), and fragile X syndrome be open to reimbursement for couples planning or in the early stages of pregnancy. Its favorable…

The Patrick Wild Centre at The University of Edinburgh launched an online portal for its fragile X syndrome registry on Oct. 10, European fragile X awareness day. The new website, called eHub, is open to all affected by the disease or carrying a so-called premutation of the gene…

Having fewer primary cilia — cellular structures that act like antennas to detect several signals — in nerve cells may contribute to learning and memory deficits in fragile X syndrome, according to a study in mice. These findings suggest that therapeutic approaches designed to increase the number of these…

People with fragile X syndrome experience greater independence in daily activities and less severe behavioral problems over time, a trend that stabilizes or reverses when they reach their 30s, a study suggests. Researchers found that higher levels of autism spectrum disorder (ASD) symptoms were linked to lower independence…

Reduced levels of perineuronal nets — net-like structures around nerve cells and involved in memory consolidation — in the brain’s fear-learning circuit may be associated with learning deficits and impaired fear responses in fragile X syndrome (FXS), according to a mouse study. The findings suggest that therapeutic approaches designed…

A single early-life seizure results in behaviors resembling fragile X syndrome (FXS) later in life, but does not exacerbate these behaviors in a fragile X mouse model, a preclinical study has found. The study, “A single early-life seizure results in long-term behavioral changes in the adult Fmr1…