Neuropathy

Handbook of Clinical Neurology
Chiara Pisciotta, Michael Shy

Abstract

The genetic neuropathies are a clinically and genetically heterogeneous group of diseases that can broadly be classified into two groups: those in which the neuropathy is the sole or primary part of the disorder (Charcot-Marie-Tooth disease, CMT) and those in which the neuropathy is part of a more generalized neurologic or multisystem disorder (e.g., familial amyloid polyneuropathy, neuropathies associated with mitochondrial diseases, with hereditary ataxias, porphyrias). The former is the most common group, with a prevalence of 1 in 2500 people, and this chapter will concentrate on CMT. CMT is, however, an umbrella term that encompasses a wide variety of inherited sensory and/or motor neuropathies. The number of disease genes identified in CMT has expanded rapidly over the past few decades, making an accurate genetic diagnosis more challenging, although increasingly possible. Although no specific therapies are yet available, research into their pathogenesis has increased our understanding of the disease and allowed the development of rational approaches to therapy. In this chapter, the authors review the clinical features of CMT, suggest genetic testing strategies, and provide an update on new-generation sequencing techniques ...Continue Reading

Citations

Jul 13, 2018·CNS Neuroscience & Therapeutics·Josef Finsterer, Sinda Zarrouk-Mahjoub
Jan 7, 2020·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Luca GentileAnna Mazzeo
Mar 9, 2019·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Giuseppe VitaAnna Mazzeo
Jul 25, 2019·International Journal of Molecular Sciences·Jonathan MorenaJ Chad Hoyle
Aug 28, 2020·Frontiers in Cellular Neuroscience·James N SleighGiampietro Schiavo
Jan 19, 2021·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Diego LopergoloFabio Giannini
Feb 14, 2021·Neuroscience and Biobehavioral Reviews·Anthony Tucker-BartleyJaymin Upadhyay
Aug 24, 2020·Biochimica Et Biophysica Acta. Molecular and Cell Biology of Lipids·Anna Maria GiudettiCecilia Bucci
Apr 27, 2021·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Stefano TozzaFiore Manganelli
May 15, 2021·Journal of the Peripheral Nervous System : JPNS·Francesco ArutaStefano Tozza
May 26, 2021·Expert Review of Neurotherapeutics·Chiara PisciottaDavide Pareyson
Sep 26, 2021·Molecular Genetics & Genomic Medicine·Bianca de Aguiar Coelho Silva MadeiroCarolina da Cunha Correia
Nov 24, 2021·Journal of the Peripheral Nervous System : JPNS·Da Eun NamKi Wha Chung

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