The goal of genetic testing for hereditary neurological diseases is to determine whether or not a patient has the disease, or is likely to develop it. Determining the molecular cause of a neurological disease can open the door to individually tailored treatment and medical care, and allow families to avoid invasive and often costly testing and procedures.
Articles on neurology
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
We aimed for a comprehensive delineation of genetic, functional and phenotypic aspects of GRIN2B encephalopathy and explored potential prospects of personalised medicine. Data of 48 individuals with de novo GRIN2B variants were collected from several diagnostic and research cohorts, as well as from…
Intellectual disability (ID), also referred to as mental retardation (MR), is a lifelong disability that presents in infancy/early childhood and it is characterized by below-average intelligence and a lack of skills essential for every-day life. People with intellectual disabilities can learn new…
Hereditary Spastic Paraplegia (HSP), also known as SPG (Spastic Paraplegia) is a group of inherited neurological diseases whose main feature is progressive spasticity in the lower limbs as a result of neuronal dysfunction. The condition sometimes also affects the optic nerve and retina or causes…
Tuberous sclerosis complex is a genetic disorder characterized by the growth of numerous benign tumors in different body parts, including skin, brain, kidneys, and other organs. The diagnosis of TSC is based on clinical findings, but genetic background of the disease is also very common. Thus,…
Aicardi-Goutieres syndrome is a rare inherited disorder that mainly affects the brain, immune system, and skin. Most characteristically, Aicardi-Goutières syndrome (AGS) manifests as an early-onset encephalopathy which results in severe intellectual and physical disabilities.