[Advances in genetic studies of Charcot-Marie-Tooth disease type 4 (CMT4)].
The Charcot-Marie-Tooth disease (CMT) is one of the most common human inherited peripheral neuropathies. The most common pattern of inheritance is autosomal dominant, with less often occurrence autosomal recessive and X-linked dominant/recessive inheritance. CMT is generally divided into three forms: demyelinating forms (CMT1), axonal forms (CMT2) and intermediate forms (DI-CMT). The autosomal recessive form (AR-CMT1 or CMT4) is accompanied by progressive distal muscle weakness and atrophy of the limbs, pes cavus and claw-like hands. In addition, CMT4 is also characterized by early onset, rapid progression, and varying degrees of sensory loss and spinal deformities (e.g. scoliosis). Recently, 11 subtypes of CMT4 have been identified. Some of these subtypes were clear in pathogenic mechanisms, some had founder mutation, but some still had limited clinical description and mutation analysis. In this review, we summarize the latest research progresses of CMT4, including genotypes and phenotypes, pathogenic mechanisms and mouse models.
School of Medicine, Shanghai Jiao Tong University Shanghai 200025, China.
Ye
Y
Xu
School of Medicine, Shanghai Jiao Tong University Shanghai 200025, China.
Jia-ying
JY
Zhang
School of Medicine, Shanghai Jiao Tong University Shanghai 200025, China.
Bo-yu
BY
Yang
School of Medicine, Shanghai Jiao Tong University Shanghai 200025, China.
Zhi-hong
ZH
He
School of Medicine, Shanghai Jiao Tong University Shanghai 200025, China.
Mu-chen
MC
Zhang
Department of Medical Genetics, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.
Zhen
Z
Yu
Department of Medical Genetics, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.
Ming-min
MM
Gu
D000818:Animals; D002607:Charcot-Marie-Tooth Disease / Q000145:classification / Q000235:genetics*; D004195:Disease Models, Animal; D005838:Genotype; D006801:Humans; D051379:Mice; D010641:Phenotype