PMID: 26341866DOI: 10.1212/wnl.0000000000001995Sep 6, 2015Paper
Prevalence of neurogenetic disorders in the North of England
Neurology
David BargielaPatrick F Chinnery
Abstract
Genetic disorders enter the differential diagnosis of common neurologic diseases, but their overall prevalence is not known. We set out to determine their minimum prevalence. Meta-analysis of epidemiologic data gathered from the same geographic region in the North of England. Monogenic neurologic disorders affect at least 90.9/100,000 (95% confidence interval 87.6-94.3), or 1 in 1,100 of the population in Northern England. As a group, neurogenetic disorders are not rare. These findings have implications for clinical service delivery.
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