Clear diagnosis with genetic testing is the basis of effective treatment and management for many disorders of the brain and nervous system. Serving as an invaluable tool, genetic testing enables the identification of inherited neurological conditions, such as muscle control and movement disorders, delayed mental development, degeneracy and learning disabilities. With knowledge of variants associated with neurological diseases in more than 1,850 genes, our vast knowledge and diagnostic expertise can help you diagnose your patients quickly and comprehensively.
Articles on Neurology
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One Gene – Two Mutational Mechanisms
For a few genes, mono-allelic gain-of-function mutations as well as bi-allelic loss-of-function mutations have been found to cause disease. Based on findings in a large consanguineous family with multiple stillbirths, KIDINS220 can now be added to this list. A corresponding study, which was…
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A Variant-Specific Mutational Effect
A given genetic disorder is usually associated with numerous distinct mutations in the underlying gene. For a novel neurodegenerative syndrome, however, only a single TRAPPC4 variant seems to be causative. A cohort of 23 pertinent patients, many of which were identified at CENTOGENE, was published…
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Understanding Parkinson’s Disease on a Global Scale
Current insights into Parkinson’s disease (PD) are largely based on studies in Europe and North America. A recent effort towards establishing a multi-ethnic understanding of PD resulted in intriguing findings in Malayan patients. The study, to which CENTOGENE contributed comprehensive genetic…
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Unlocking the Genetics of Seizures
Seizures are frequently rooted in a genetic factor, but many of the corresponding disorders are ultra-rare. A new study reports ADARB1 mutations in two families in which patients suffer from a severe seizure+ syndrome; one of these families was identified at CENTOGENE. The study, which confirms…
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A Novel Disorder of Nerve Cell Communication
Proper development and function of nerve cells relies on communication by so-called neurotransmitters. Mutations in the GAD1 gene, which is involved in neurotransmitter synthesis, have now been found to cause a multitude of severe neurological phenotypes.