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Tag: gene mutations

Early Role Of Serotonergic Pathology In Parkinson’s Disease Highlighted

The earliest signs of Parkinson’s disease in the brain, many years before patients show any symptoms, have been uncovered by researchers from King’s College London. The results suggest changes to the serotonin system could act as a key early warning signal for the disease. “Parkinson’s disease has traditionally been thought of as occurring due to […]

MAPT Gene Variant Implicated In Frontotemporal Dementia

A lone gene mutation that causes an inherited form of frontotemporal dementia makes it harder for neurons in the brain to communicate with one another, leading to neurodegeneration, an international team of researchers, led by Washington University School of Medicine in St. Louis, has found. Unlike the more common Alzheimer’s disease, frontotemporal dementia tends to […]

Cerebellar Ataxia Link To Elongator Gene Mutation Identified

A gene mutation causing Purkinje cell degeneration and ataxia-like symptoms in a mouse model has been identified by a team of scientists. The team, led by Dr Marija Kojic and Professor Brandon Wainwright from The University of Queensland’s Institute for Molecular Bioscience (IMB) and Dr Sebastian Glatt from Jagiellonian University in Krakow, made the findings […]

Why Catnap2 Gene Mutation Causes Seizures In Children With Autism

Researchers have discovered why a mutated gene causes seizures in some children who have autism. One third of children who have autism spectrum disorder also have epilepsy. It is related to a gene that is mutated in patients with autism. But scientists didn’t know why the mutation causes seizures. The new discovery shows the mutation […]