Ana Pena, PhD,  —

Nonepileptic myoclonus is a common feature in Angelman adolescents and young adults, and although it does not affect consciousness or cause cognitive consequences, it can affect quality of life significantly, a study shows The research, “Myoclonus in Angelman Syndrome…

The U.S. Food and Drug Administration (FDA) has designated  NSI-189  an orphan drug to help advance Neuralstem’s lead compound in development as a potential treatment of Angelman syndrome. Angleman “is a rare disease with significant unmet medical need, and for which there…

Ganaxolone reduced seizures, anxiety and improved motor deficits in a mouse model of Angelman syndrome, according to a study. That result supports clinical studies to investigate the compound as a possible treatment for this neurological disorder, researchers say..

Loss of the protein that contributes to Angelman syndrome led to a decrease in the ability of vision-related nerve cells in the brain to process visual information in a mouse model of the disease, a study showed. The study, “UBE3A loss increases excitability and…

Specific differences in the gait of children with Angelman syndrome may be used as a tool for disease assessment and to evaluate the effects of experimental treatments, according to a recent study. The study, “Identification of spatiotemporal gait parameters and pressure-related characteristics in…

The protocol used by Australian researchers to create the Global Angelman Syndrome Registry, the first worldwide patient registry dedicated to Angelman syndrome (AS), has been published. Preliminary results are included in the study, providing a characterization of the more than 450 people taking part so far. More…

Anxiety and movement disorders may increase with age in adults with Angelman syndrome, while the prevalence of seizures may decrease, a study suggests. The results also call into attention the need for better monitoring and treatment, provided by a multidisciplinary medical team, to improve quality of…

Taurine was able to recover motor capacity, learning and memory skills in a mouse model of Angelman syndrome, indicating the compound may be a potential therapy to treat motor and cognitive deficits in Angelman patients. The study “Taurine Administration Recovers Motor and…

Early and careful detection of the spectrum of neurodevelopmental disabilities in children with Angelman syndrome is essential to planning personalized rehabilitation programs and improving outcomes, research suggests. These findings emphasize the need for early diagnosis, particularly of neurovisual disorders, which can seriously contribute to cognitive impairment…

The loss of a fundamental protein in the brain may explain how genetic changes in Angelman syndrome lead to the neurological impairments seen in this condition and in other autism spectrum disorders (ASDs). Researchers reached this conclusion in a study titled, “Loss of…