Mechanism, Prevalence, and More Severe Neuropathy Phenotype of the Charcot-Marie-Tooth Type 1A Triplication
نویسندگان
چکیده
منابع مشابه
Utility of Charcot-Marie-Tooth Neuropathy Score in children with type 1A disease.
The aim of this study was to evaluate the utility of the Charcot-Marie-Tooth Neuropathy Score (CMTNS) for evaluation of disease severity in young children with Charcot-Marie-Tooth type 1A. Current validated scoring scales for Charcot-Marie-Tooth are the CMTNS and the Neuropathy Impairment Score (NIS). Both work well for adult patients, and usually also for children over 10 years of age. There i...
متن کاملDNA duplication associated with Charcot-Marie-Tooth disease type 1A.
Charcot-Marie-tooth disease type 1A (CMT1A) was localized by genetic mapping to a 3 cM interval on human chromosome 17p. DNA markers within this interval revealed a duplication that is completely linked and associated with CMT1A. The duplication was demonstrated in affected individuals by the presence of three alleles at a highly polymorphic locus, by dosage differences at RFLP alleles, and by ...
متن کاملImpaired expression of ciliary neurotrophic factor in Charcot-Marie-Tooth type 1A neuropathy.
We investigated the contribution of Schwann cell-derived ciliary neurotrophic factor (CNTF) to the pathogenesis of Charcot-Marie-Tooth disease type 1A (CMT1A) and addressed the question as to whether it plays a role in the development of axonal damage observed in the disease, with aging. Ciliary neurotrophic factor was underexpressed in experimental CMT1A but not in other models of hereditary n...
متن کاملCharcot-Marie-Tooth type 1A disease from patient to laboratory.
Charcot-Marie-Tooth (CMT) disease is a well-known neural or spinal type of muscular atrophy. It is the most familiar disease within a group of conditions called Hereditary Motor and Sensory Neuropathies (HMSN). The disease was discovered by three scientists several years ago. Several genes are involved as the causative agents for the disease. Hundreds of causative mutations have been found and ...
متن کاملNerve excitability properties in Charcot-Marie-Tooth disease type 1A.
Charcot-Marie-Tooth disease type 1A (CMT1A) is commonly considered a prototype of a hereditary demyelinating polyneuropathy. Apart from the myelin involvement, there has been little information on axonal membrane properties in this condition. Taking advantage of the uniform nature of the disease process, we undertook the in vivo assessment of multiple axonal excitability properties at the media...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2014
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2014.01.017