Hereditary neuropathies in children: the contribution of the new genetics.
Although the prevalence of the hereditary motor and sensory neuropathies in childhood is not clearly established and the age of presentation may overlap the arbitrary boundary between pediatric and adult neurology, the recent explosion of genetic information regarding these conditions has completely altered our understanding and classification of these diseases. The current status of our understanding of the molecular basis of the hereditary neuropathies which might present in childhood is reviewed. The impact of this information on our concepts of the mechanisms operative in the production of the clinical signs and symptoms in these diseases is discussed.
Ouvrier
R A
RA
Department of Neurology, New Children's Hospital, Westmead, NSW Australia.
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D015417:Hereditary Sensory and Motor Neuropathy / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009460:Neurologic Examination; D011247:Pregnancy