Charcot-Marie-Tooth 型 1A 病与复发缓解型多发性硬化之间的特殊关联。
A special association between Charcot-Marie-Tooth type 1A disease and relapsing remitting multiple sclerosis.
机构信息
Hacettepe University Medical School, Department of Physical and Rehabilitation Medicine, Ankara, Turkey.
Hacettepe University Medical School, Department of Physical and Rehabilitation Medicine, Ankara, Turkey.
出版信息
Mult Scler Relat Disord. 2019 Oct;35:83-85. doi: 10.1016/j.msard.2019.07.015. Epub 2019 Jul 22.
BACKGROUND
Central nervous system involvement has been reported in different subtypes of Charcot-Marie-Tooth (CMT) diseases. The increasing number of cases with CMT and MS may provide further information about the common pathway of demyelination and MS pathogenesis.
CASE PRESENTATION
We report the case of a 21-year-old woman with CMT1A and MS. Bilateral rest and intention tremor, steroid associated psychotic episodes, and severe disability at an early age were unexpected aspects of this case.
CONCLUSION
PMP22, the target protein in CMT1A, shares partial homology with other CNS proteins. PMP22 gene might be relevant to a common pathway of the demyelinating process.
背景
中枢神经系统受累已在不同类型的夏科-马里-图什病（CMT）中报道。CMT 和 MS 的病例越来越多，这可能为脱髓鞘和 MS 发病机制的共同途径提供更多信息。
病例介绍
我们报告了一例 CMT1A 和 MS 合并的 21 岁女性病例。双侧静止性和意向性震颤、类固醇相关的精神病发作以及早期严重残疾是该病例的意外方面。
结论
CMT1A 的靶蛋白 PMP22 与其他中枢神经系统蛋白具有部分同源性。PMP22 基因可能与脱髓鞘过程的共同途径有关。
Zotero 插件