Monogenic Mendelian disorders in general neurological practice.
An observational study of monogenic Mendelian disorders seen in general neurology outpatient clinics over a 6-year period was undertaken. Fifty-three patients with 16 different diagnoses were identified, the commonest being Huntington's disease and neurofibromatosis type 1. This low frequency of monogenic Mendelian disorders has implications for both continuing medical education and for neurological training. All such patients are probably best referred to specialist clinics where expertise in diagnosis, genetic counselling and testing, and management has been developed.
Larner
A J
AJ
Walton Centre for Neurology and Neurosurgery, Fazakerley, Liverpool, UK. a.larner@thewaltoncentre.nhs.uk
D020739:Brain Diseases, Metabolic, Inborn / Q000453:epidemiology*; D004739:England / Q000453:epidemiology; D020271:Heredodegenerative Disorders, Nervous System / Q000453:epidemiology*; D006801:Humans; D006816:Huntington Disease / Q000453:epidemiology; D009456:Neurofibromatosis 1 / Q000453:epidemiology; D010044:Outpatient Clinics, Hospital / Q000706:statistics & numerical data