期刊
CLINICAL GENETICS
卷 86, 期 5, 页码 422-431出版社
WILEY-BLACKWELL
DOI: 10.1111/cge.12393
关键词
axonal dysfunction; Charcot-Marie-Tooth; CMT1A duplication; Schwann cell dynamics; symmetric distal polyneuropathy; whole-exome sequencing
The discovery in 1991 that chromosome 17p12 duplication is associated with Charcot-Marie-Tooth (CMT) disease marked the beginning of an era of molecular insight into this disorder, which encompasses the peripheral motor and sensory neuropathies. A mere two decades later, over 40 subtypes of CMT have been molecularly defined and many have been extensively studied in vitro and in animal models, providing the framework for a more comprehensive understanding of the biological pathways dictating myelination, axonal dynamics, and axon-glia interactions. The advent of next-generation sequencing technologies offers opportunities in both research and clinical settings for gene discovery, further molecular understanding and diagnosis, and calls for modifications of the existing algorithms guiding genetic testing. Although treatment is mainly supportive at this time, advances in this field are anticipated as the molecular basis of CMT is unraveled.
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