Treatment of Charcot-Marie-Tooth neuropathies

被引：7

作者：

Beloribi-Djefaflia, S. ^{[1
]}

Attarian, S. ^{[1
,2
,3
,4
]}

机构：

[1] CHU Timone, AP HM, Reference Ctr Neuromuscular Disorders & ALS, Marseille, France

[2] European Reference Network Rare Dis ERN, FILNEMUS, Marseille, France

[3] Aix Marseille Univ, Med Genet, INSERM, UMR 1251, F-13005 Marseille, France

[4] CHU Timone, Reference Ctr Neuromuscular Disorders & ALS, F-13005 Marseille, France

来源：

REVUE NEUROLOGIQUE | 2023年 / 179卷 / 1-2期

关键词：

Charcot Marie Tooth; Inherited neuropathy; Therapy; Gene therapy; Management; ANKLE-FOOT-ORTHOSES; QUALITY-OF-LIFE; PERIACETABULAR OSTEOTOMY; MOUSE MODELS; DISEASE; EXERCISE; REHABILITATION; DEFORMITIES; MYELINATION; MANAGEMENT;

D O I：

10.1016/j.neurol.2022.11.006

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Charcot-Marie-Tooth (CMT) is a heterogeneous group of inherited neuropathies that affect the peripheral nerves and slowly cause progressive disability. Currently, there is no effective therapy. Patients' management is based on rehabilitation and occupational therapy, fatigue, and pain treatment with regular follow-up according to the severity of the disease. In the last three decades, much progress has been made to identify mutations involved in the different types of CMT, decipher the pathophysiology of the disease, and identify key genes and pathways that could be targeted to propose new therapeutic strategies. Genetic therapy is one of the fields of interest to silence genes such as PMP22 in CMT1A or to express GJB1 in CMT1X. Among the most promising molecules, inhibitors of the NRG-1 axis and modulators of UPR or the HDACs enzyme family could be used in different types of CMT. # 2022 Elsevier Masson SAS. All rights reserved.

引用

页码：35 / 48

页数：14

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