Autosomal-recessive and X-linked forms of hereditary motor and sensory neuropathy in childhood.
The hereditary motor and sensory neuropathies (HMSNs, Charcot-Marie-Tooth neuropathies) are the most common degenerative disorders of the peripheral nervous system. In recent years a dramatic expansion has occurred in our understanding of the molecular basis and cell biology of the recessively inherited demyelinating and axonal neuropathies, with delineation of a number of new neuropathies. Mutations in some genes cause a wide variety of clinical, neurophysiologic, and pathologic phenotypes, rendering diagnosis difficult. The X-linked forms of HMSN represent at least 10%-15% of all HMSNs and have an expanded disease spectrum including demyelinating, intermediate, and axonal neuropathies, transient central nervous system (CNS) dysfunction, mental retardation, and hearing loss. This review presents an overview of the recessive and X-linked forms of HMSN observed in childhood, with particular reference to disease phenotype and neurophysiologic and pathologic abnormalities suggestive of specific diagnoses. These findings can be used by the clinician to formulate a differential diagnosis and guide targeted genetic testing.
Ouvrier
Robert
R
TY Nelson Department of Neurology and Neurosurgery, Children's Hospital at Westmead, Locked Bag 4001, Westmead, NSW 2145, Australia. Roberto@chw.edu.au
Geevasingha
Nimeshan
N
Ryan
Monique M
MM
D005260:Female; D005808:Genes, Recessive; D050172:Genes, X-Linked; D015417:Hereditary Sensory and Motor Neuropathy / Q000150:complications* / Q000235:genetics* / Q000473:pathology / Q000648:ultrastructure; D006801:Humans; D008297:Male; D009154:Mutation