Neurology
Placing genetics at the core of medical decisions
In the field of neurology, genetic testing is applied to detect germline pathogenic variants that contribute to the etiology of inherited disorders with neurological manifestations. This field encompasses a broad and clinically heterogeneous spectrum of neurological disorders, including e.g., neurodegenerative and dementia-related diseases ( and ); motor neuron diseases (, ); movement disorders (Huntington’s disease, , ), neuropathies (), as well as neurodevelopmental disorders (disorders affecting brain development and function, encompassing intellectual disability, autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), communication and learning disorders; epilepsies). Pathogenic variants have been identified across numerous genes and genomic loci and exhibit diverse modes of inheritance, and repeat-expansion mechanisms.
One example that demonstrates the increasing clinical relevance of genetic testing is monogenic epilepsy, where identification of the causative variant can guide treatment selection. Establishing the precise molecular diagnosis secures the clinical diagnosis, clarifies prognosis and family risk, and can increasingly guide access to emerging therapies.
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