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
Amyotrophic lateral sclerosis (ALS) is an incurable neurodegenerative disorder characterized by progressive degeneration of the upper and lower motor neurons. Most cases appear to be sporadic, but 5-10% of cases have a family history of the disease. Since the discovery of mutations in gene encoding…
Evidence for inflammation in Fabry’s disease? Headache and muscle involvement responding to corticosteroid and methotrexate treatment
We report the case of a 38-year-old female patient who had been diagnosed as lupus erythematosus because of generalized muscle and burning pain combined with slightly elevated C-reactive protein (CRP) and antinuclear antibodies (ANA) 1:640. Twelve years later, Fabry’s disease was diagnosed by…
Posterior versus Anterior Circulation Stroke in Young Adults: A Comparative Study of Stroke Aetiologies and Risk Factors in Stroke among Young Fabry Patients
Although 20–30% of all strokes occur in the posterior circulation, few studies have explored the characteristics of patients with strokes in the posterior compared to the anterior circulation so far. Especially data on young patients is missing. In this secondary analysis of data of the prospective…
CentoWebinar on demand - A race against the clock - Diagnosing genetic conditions in newborns and children
Up to one third of all babies and children admitted to the intensive care unit (ICU) have a genetic disease. For many of them early identification can make a difference for their immediate and later health.
Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans
Global developmental delay (GDD), often accompanied by intellectual disability, seizures and other features is a severe, clinically and genetically highly heterogeneous childhood-onset disorder. In cases where genetic causes have been identified, de-novo mutations in neuronally expressed genes are…