Prevalence of neurogenetic disorders in the North of England

OBJECTIVE: 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. METHODS: Meta-analysis of epidemiologic data gathered from the same geographic region in the North of England. RES...

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Detalles Bibliográficos
Autores principales: Bargiela, David, Yu-Wai-Man, Patrick, Keogh, Michael, Horvath, Rita, Chinnery, Patrick F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4607600/
https://www.ncbi.nlm.nih.gov/pubmed/26341866
http://dx.doi.org/10.1212/WNL.0000000000001995
Descripción
Sumario:OBJECTIVE: 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. METHODS: Meta-analysis of epidemiologic data gathered from the same geographic region in the North of England. RESULTS: 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. CONCLUSION: As a group, neurogenetic disorders are not rare. These findings have implications for clinical service delivery.

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