Abstract
Owing to the rapid advancements of genomic sequencing technology, a large number of molecular defects have been found to underlie various neurogenetic conditions. Only few of these hereditary disorders are characterized by a predominant or even isolated affection of CNs, while a much larger number may involve them as part of a more complex neurological or multisystem phenotype. Given the magnitude of potentially underlying genetic etiologies, the aim of this chapter is to provide a clinically oriented overview of monogenic conditions causing CN dysfunction. Mainly based on epidemiological relevance, a few selected conditions will be delineated in more detail. As the era of precision medicine has already been entered, the constantly increasing number of targeted treatments which are already available for certain genetic disorders will be emphasized.
Author of this chapter: Martin Krenn.
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Krenn, M. (2023). Cranial Nerve Involvement in Genetic Disorders. In: The Cranial Nerves in Neurology. Springer, Cham. https://doi.org/10.1007/978-3-031-43081-7_25
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DOI: https://doi.org/10.1007/978-3-031-43081-7_25
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