面发感觉-运动神经病变,罕见的亨廷顿氏病变种还是偶然关联?

R. Juntas-Morales, E. D. L. Cruz, F. Esselin, N. Pageot, G. Taieb, W. Camu
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摘要

目的:描述一名面部发病的感觉-运动神经病变(FOSMN)后来发展为亨廷顿病(HD)的患者。病例报告:一名62岁妇女在转诊前8年主诉进行性吞咽困难。在最初的评估中,有过多的唾液,吞咽困难和感觉-运动三叉神经损伤。上肢和舌头的神经支配缺失。眨眼反射被取消。肌萎缩性侧索硬化症(ALS)相关基因遗传研究正常。她被诊断为FOSMN综合征。她的临床状况逐渐恶化,角膜麻醉,严重营养不良,右臂和轴向无力。转诊7年后,她不能行走并发展为全身性舞蹈病。异常亨廷顿基因重复扩增证实了HD的诊断。她在出现吞咽困难16年后去世。结论:据我们所知,已报道了HD和ALS的病例,但尚未报道FOSMN和HD。一些FOSMN病例与als相关的基因突变有关,HD表型与C9ORF72重复扩增有关。最近,在ALS人群中发现了亨廷顿蛋白重复扩增。虽然不能排除偶然关联,但文献数据支持FOSMN和HD在这一特殊病例中的致病关系。我们建议对FOSMN患者的亨廷顿蛋白基因进行更系统的研究。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Facial-onset sensory-motor neuronopathy, a rare variant of Huntington’s disease or chance association?
Objectives: To describe a patient with facial-onset sensory-motor neuronopathy (FOSMN) that later developed Huntington’s disease (HD). Case report: A 62-year-old woman complained of progressive dysphagia 8 years before referral. At initial evaluation, there was excessive salivation, dysphagia, and sensory-motor trigeminal impairment. Denervation was noted on the upper limbs and the tongue. Blink reflexes were abolished. Genetic study of amyotrophic lateral sclerosis (ALS)-related genes was normal. She was diagnosed with FOSMN syndrome. Her clinical state progressively worsened with corneal anesthesia, severe denutrition, right arm and axial weakness. Seven years after referral, she was unable walk and developed generalized chorea. Abnormal huntingtin gene repeat expansion confirmed the diagnosis of HD. She died 16 years after onset of dysphagia. Conclusion: Cases with both HD and ALS have already been reported but not FOSMN and HD, to our knowledge. Some FOSMN cases have been linked to ALS-related gene mutations and HD phenocopies have been associated with C9ORF72 repeat expansions. Recently, huntingtin repeat expansions were described in the ALS population. Although a chance association cannot be excluded, data from the literature are in favor of a pathogenic relationship between FOSMN and HD in this particular case. We suggest that huntingtin gene be more systematically studied in patients with FOSMN.
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