Chapter 24 - Neuropathies—Translating Causes into Treatments

Abstract

Neuropathy refers to any disease of peripheral nerves. This chapter focuses on causes of neuropathy and the treatment approaches based upon them. The causes can be separated according to whether they are inherited or acquired, part of a syndrome, and “axonal” or “demyelinating.” Non-syndromic inherited neuropathies are called Charcot-Marie-Tooth disease (CMT) or hereditary motor and sensory neuropathy (HMSN). If the neuropathy is congenital, it is often called congenital hypomyelinating neuropathy (CHN). If it is recognized later in infancy, it is called Dejerine-Sottas syndrome (DSS). Furthermore, this chapter also summarizes molecular causes of many inherited neuropathies. Knowing the molecular basis of inherited diseases prompts immediate consideration of gene therapy. The potential roles of gene therapy include replacing genes in diseases caused by loss-of-function mutations, and modifying the levels of expression in dominantly inherited neuropathies caused by altered gene dosage. Many obstacles needs to be overcome to make gene therapy a feasible strategy, including an efficient means of targeting genes to myelinating Schwann cells and/or neurons without significant cellular toxicity.