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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Understanding Neurodegeneration in Niemann-Pick Disease
Niemann-Pick (NP) disease is a lysosomal storage disorder that involves the degeneration of certain neurons. A recent study, co-authored by CENTOGENE’s CEO Prof. Arndt Rolfs, investigated this process using an electrophysiological approach. The findings of disturbed synaptic signaling open up novel…
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Characterization of an Ultra-Rare Disorder
Novel gene-disease associations are continuously being proposed, but the underlying evidence is frequently based on only a few patients from a single family. CENTOGENE’s focus on rare disease diagnostics has enabled us to internally confirm many pertinent observations. For a rare form of…
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An Unorthodox Disease Mechanism
Essential proteins are defined as those that are necessary for living. In theory, homozygous loss-of-function variants that only affect certain isoforms may still be found in living individuals. A recent study involving patients that were identified at CENTOGENE presents one of the first examples of…
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Genetics in Parkinson’s Disease – Lessons from a Global Cohort
Join our next webinar discussing Parkinson’s Disease, one of the most common neurodegenerative disorders manifested by a broad spectrum of motor and non-motor features. Prof. Peter Bauer, MD, will be introducing the genetics of this progressive nervous system disorder and outlining genetic…
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Novel Insights into a Rare Disorder
A profound understanding of rare genetic disorders relies on the description of large numbers of patients. Based on its unique positioning in the rare disease field, CENTOGENE can significantly contribute on multiple levels. This is exemplified by a recent corresponding study in the Journal of…