Clinical, Electrophysiological, Pathological, And Genetic Study In Chinese Charcot-Marie-Tooth Disease Patients With Type 1A And X-linked

Part â… Clinical, Electrophysiological, Pathological, and Genetic Study inChinese Charcot-Marie-Tooth Disease Type 1APatients with 17p11.2 duplicationObjective: CMT1 A patients with the 17p11.2 duplication have the same genetic defect but present a wide range of clinical disability. Knowledge of the relationships between the phenotypic variations and other parameters, such as electro- physiological findings, such as onset of the age, disease duration, and disability may be important for understanding the physiopathology. And demyelinating versus axonal phenotypes are major issues in CMTl A associated treatment in the future. Materials and methods: 66 Charcot-Marie-Tooth disease type 1A patients proven 17p11.2 duplication by the polymorphic short tandem repeats of PCR-based. Patients were examined clinically, electrophysiologically and genetically, to evaluate the demyelinating and axonal feature. 11 of 66 patients from different families had light and electron microscopy examination of a sural nerve biopsy and quantitive analyses. Results: The study conclude that MNCV slowing is a reliable tool in identifying affected individuals; median nerve MNCV is invariably <34.2 m/s. which is uniformly phenotype even among members in the same family. Age at onset is a reliable to predict disease severity; the earlier the onset, the lower the MNCV and the higher the functional disability. Although CMTl A is a clinically progressive disorder, the MNCV and CMAP do not change significantly during the course of the disease. The main myelin and axon damage, responsible for nerveconduction slowing and CMAP reducing respectively. Considering PMP22 is the protein located in Schwann cells, over expression could affect function in Schwann cell, but how to the axon and induce the CMAP reducing unknown. Our study demonstrates that PMP22 duplication wide variety of demyelinating and axonal, but in major induced demyelinating changes features. These genetically determined axonal and demyelinating phenotypes corresponded well with median nerve MCVs, which remained constant despite disease advancement. In contrast, clinical manifestations of muscle wasting correlated well with decreases in CMAPs and axonal loss, which became more pronounced as disease progressed. Conclusion: Oue study demonstrates that PMP22 duplication resulted in demyelinating and axonal losing. The genetically determined demyelinating phenotypes corresponded well with median nerve MCVs, and then clinical manifestations correlated well with decreases in CMAPs and axonal loss. Part â…¡A Clinical, Electrophysiological, Pathological, and Genetic Study in X-Charcot-Marie-Tooth Disease with X-linkedObjective: X-linked Charcot-Marie-Tooth disease (CMTX) is a subtype of CMT, caused by mutations in the connexin 32 gene. Most of them with the dominant inheritance, relations between phenotypes and gender and type of neuropathy are quite different, by the study of this series of Chinese CMTX patients with proven Cx32 point mutations to identify features in Chinese patients. Methods: Thirty-seven patients from 12 families with proven Cx32 mutations were examined clinically, electrophysiologically and pathologicticlly. Mutations were characterized in index cases by automatic sequencing and detected in at-risk individuals by sequencing analysis. Three patients from different families had light and electron microscopy examination of a sural nerve biopsy and quantitive analyses. Results: Males (n = 21) were more severely affected than females (n = 16). In the majority of males, the median motor nerve conduction velocity (MNCV)...