New and emerging treatments of Charcot–Marie–Tooth disease

Abstract

Introduction: Inherited neuropathies known collectively as Charcot–Marie–Tooth (CMT) disease are one of the most common inherited neurological conditions affecting ∼ 1 in 2500 people. Despite the clinical similarities among patients with CMT, it is recognized that this group of disorders is both genetically and phenotypically heterogeneous, which results in the need for therapeutic strategies based on specific pathogenic mechanisms.

Areas covered: Improvements in genetic testing techniques have contributed to identification of specific genes, proteins and molecular pathways that provide the basis for developing rational approaches to therapy, genetic counseling and family planning. Therapeutic approaches should also include day-to-day management issues such as orthotic use, exercise approaches and the development of standards of care for patients with inherited neuropathies.

Expert opinion: Identification of genetic causes of neuropathy has made it possible to identify specific disease causing molecular pathways that cause demyelination or axonal degeneration. It also makes it possible to develop and test rational therapies to reduce disability although many challenges exist including development of sensitive reproducible outcome measures and markers of disease progression.

Keywords:

• Charcot–Marie–Tooth disease
• inherited neuropathies
• myelin protein zero
• pluripotent stem cells
• peripheral myelin protein 22
• unfolded protein response

Declaration of interest

Funding has been received from National Institute of Neurological Disorders and Stroke, Office of Rare Disease Research, National Center for Advancing Translational Sciences, the Muscular Dystrophy Association and the Charcot–Marie–Tooth Association. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Notes

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