Join us in Milan at the ESHG at booth #466 :: Scientific data on selected neurological diseases
Genetic insights into dystonia, spastic paraplegia and Parkinson's disease
- Diagnose a disorder even before symptoms appear through neurogenetic testing.
- Help your patients and their families make informed decisions on therapy options by access to trusted results.
Early diagnostic testing of hereditary neurological disorders can significantly influence daily clinical practice by increasing the quality of patient care, reducing costs, and possibly support therapeutic strategies that are available for treatment. The progress of diseases can often be reduced by early detection of potential genetic backgrounds.
One example is Parkinson´s disease: in addition to the known causes of familial Parkinson´s disease, it has been shown that mutations in the Gaucher gene (GBA) pose the strongest genetic risk factor known to date for Parkinson´s disease.
CENTOGENE is one of the leading diagnostic companies in transferring genetic findings to the clinical context, helping you to cope with the clinical daily routine.
Our comprehensive brochure (download here) provides you with an understanding of the mutation types identified in the three most prominent neurological disorders diagnosed at CENTOGENE: dystonia, spastic paraplegia and Parkinson’s disease.
- Comparison of Parkinson Risk in Ashkenazi Jewish Patients with Gaucher Disease and GBA Heterozygotes, JAMA Neurol. 2014 (get more information here)
- Clinical, genetic, and brain sonographic features related to Parkinson's disease in Gaucher disease, J Neurol. 2013 (download pdf here)
Genetic insights into epilepsy
Epilepsy is a frequent neurological disorder characterized by an enduring predisposition to
generate epileptic seizures. About 1% of the world population has epilepsy. Genetic factors are likely to play a role in most cases, either because the underlying cause of epilepsy is primarily genetic or because genes modulate susceptibility to an epileptogenic insult. The vast majority of genetic variations that contribute to the development of epilepsy still remain undiscovered.
Out of 64 mutations identified in positively diagnosed epilepsy cases, 41% are previously described mutations published in the Human Genome Mutation Database (HGMD®) while 59% are identified for the first time by CENTOGENE with a validated documentation in our mutation database CentoMD®.
CENTOGENE is offering gene panels for epilepsy and single gene tests that cover all clinical forms of epilepsy and include all so far identified genes associated with epilepsy.
Please download our detailed information sheet here.
International conference participation
CENTOGENE will attend in the next days
We are pleased to welcome you at our booth to get a personal update on our services or contact us in advance for an individual appointment to discuss custom-tailored testing in a personal meeting with one of our experts.
If you have any questions or comments, please do not hesitate to contact us.
Senior Director Strategic Communication