Inherited Neuropathies.
Hereditary neuropathies (HNs) are among the most common inherited neurologic disorders and are diverse both clinically and genetically. Recent genetic advances have contributed to a rapid expansion of identifiable causes of HN and have broadened the phenotypic spectrum associated with many of the causative mutations. The underlying molecular pathways of disease have also been better delineated, leading to the promise for potential treatments. This chapter reviews the clinical and biological aspects of the common causes of HN and addresses the challenges of approaching the diagnostic workup of these conditions in a rapidly evolving genetic landscape.
Department of Neurology, Neuromuscular Diagnostic Center, Massachusetts General Hospital, Boston, Massachusetts.
Vera
V
Fridman
MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and The National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom.
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MM
Reilly
D000293:Adolescent; D002675:Child, Preschool; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D009431:Neural Conduction / Q000235:genetics; D010523:Peripheral Nervous System Diseases / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology