PDF(Pubmed)
Abstract：
BACKGROUND: Vestibular migraine (VM) is one of the most common causes of recurrent vertigo and presents with a history of spontaneous or positional vertigo with a history of migraine headaches. While research has identified a high prevalence of migraine headaches and vestibular deficits among fragile X premutation carriers, there has been no discussion about VM within this population.
OBJECTIVE: This case series and review seeks to describe the clinical characteristics and pathophysiology of VM among individuals with the fragile X premutation. We also seek to discuss treatment and future steps in addressing VM in this population.
METHODS: A review of the literature regarding vestibular migraine and presentation of migraine headaches and vestibular deficits among premutation carriers was performed. A detailed clinical history of migraine headaches and vertigo was obtained from three patients with the fragile X premutation seen by the senior author (RJH).
RESULTS: All three cases first developed symptoms of migraine headaches earlier in life, with the development of VM near menopause. Two of the three cases developed progressive balance issues following the development of VM. All three cases found that their VM episodes were improved or resolved with pharmacological and/or lifestyle interventions.
CONCLUSIONS: It is important to recognize VM among premutation carriers because beneficial treatments are available. Future studies are needed regarding the prevalence of VM and the relationship to subsequent FXTAS. The pathophysiology of VM remains uncertain but possibilities include mitochondrial abnormalities, cranial nerve VIII toxicity secondary to neurotoxic protein accumulation, and calcitonin gene-related peptide (CGRP) signaling dysfunction due to altered levels of fragile X messenger ribonucleoprotein (FMRP).
OBJECTIVE: This case series and review seeks to describe the clinical characteristics and pathophysiology of VM among individuals with the fragile X premutation. We also seek to discuss treatment and future steps in addressing VM in this population.
METHODS: A review of the literature regarding vestibular migraine and presentation of migraine headaches and vestibular deficits among premutation carriers was performed. A detailed clinical history of migraine headaches and vertigo was obtained from three patients with the fragile X premutation seen by the senior author (RJH).
RESULTS: All three cases first developed symptoms of migraine headaches earlier in life, with the development of VM near menopause. Two of the three cases developed progressive balance issues following the development of VM. All three cases found that their VM episodes were improved or resolved with pharmacological and/or lifestyle interventions.
CONCLUSIONS: It is important to recognize VM among premutation carriers because beneficial treatments are available. Future studies are needed regarding the prevalence of VM and the relationship to subsequent FXTAS. The pathophysiology of VM remains uncertain but possibilities include mitochondrial abnormalities, cranial nerve VIII toxicity secondary to neurotoxic protein accumulation, and calcitonin gene-related peptide (CGRP) signaling dysfunction due to altered levels of fragile X messenger ribonucleoprotein (FMRP).
摘要：
背景：前庭性偏头痛（VM）是复发性眩晕的最常见原因之一，并伴有自发性或位置性眩晕史，并伴有偏头痛史。虽然研究发现，在脆弱的X前突变携带者中，偏头痛和前庭缺陷的患病率很高，在这个人群中没有关于VM的讨论。
目的：本病例系列和综述旨在描述脆性X前突变个体中VM的临床特征和病理生理学。我们还寻求讨论在这一人群中解决VM的治疗和未来步骤。
方法：对前变携带者中关于前庭性偏头痛和偏头痛和前庭缺陷表现的文献进行综述。从高级作者（RJH）看到的三名具有脆性X前突变的患者中获得了偏头痛和眩晕的详细临床病史。
结果：所有3例患者在生命早期首先出现偏头痛症状，随着VM的发展接近更年期。在VM开发之后，这三个案例中的两个出现了渐进式平衡问题。所有三例病例均发现，通过药物和/或生活方式干预，其VM发作得到改善或解决。
结论：识别前突变携带者中的VM很重要，因为可以获得有益的治疗方法。需要进一步研究VM的患病率以及与后续FXTAS的关系。VM的病理生理学仍不确定，但可能性包括线粒体异常，神经毒性蛋白积累继发的颅神经VIII毒性，和降钙素基因相关肽（CGRP）信号传导功能障碍是由于脆性X信使核糖核蛋白（FMRP）水平的改变。
目的：本病例系列和综述旨在描述脆性X前突变个体中VM的临床特征和病理生理学。我们还寻求讨论在这一人群中解决VM的治疗和未来步骤。
方法：对前变携带者中关于前庭性偏头痛和偏头痛和前庭缺陷表现的文献进行综述。从高级作者（RJH）看到的三名具有脆性X前突变的患者中获得了偏头痛和眩晕的详细临床病史。
结果：所有3例患者在生命早期首先出现偏头痛症状，随着VM的发展接近更年期。在VM开发之后，这三个案例中的两个出现了渐进式平衡问题。所有三例病例均发现，通过药物和/或生活方式干预，其VM发作得到改善或解决。
结论：识别前突变携带者中的VM很重要，因为可以获得有益的治疗方法。需要进一步研究VM的患病率以及与后续FXTAS的关系。VM的病理生理学仍不确定，但可能性包括线粒体异常，神经毒性蛋白积累继发的颅神经VIII毒性，和降钙素基因相关肽（CGRP）信号传导功能障碍是由于脆性X信使核糖核蛋白（FMRP）水平的改变。
