遗传性凝胶淀粉样变:与D187N和Y447H替换相关的颅、外周和自主神经病变的罕见病因。

IF 5.2 2区 医学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY
Lisa Mendelson, Tatiana Prokaeva, K H Vincent Lau, Vaishali Sanchorawala, Kristen McCausland, Brian Spencer, Surendra Dasari, Ellen D McPhail, Michelle C Kaku
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引用次数: 0

摘要

简介:遗传性凝胶淀粉样变是一种全身性疾病,以神经、眼科、皮肤和其他器官受累为特征。我们描述的临床特征,重点是神经系统的表现,在队列患者的AGel淀粉样变性参考淀粉样变性中心在美国。方法:经机构审查委员会批准,在2005年至2022年期间纳入了15例AGel淀粉样变患者。数据收集自预期维持的临床数据库、电子病历和电话访谈。结果:15例患者表现为神经系统病变,颅神经病变占93%,周围神经和自主神经病变占57%,双侧腕管综合征占73%。一种新的p.Y474H凝胶蛋白变体具有独特的临床表型,与最常见的AGel淀粉样变性变体不同。讨论:我们报道了在全身性AGel淀粉样变患者中颅脑和周围神经病变、腕管综合征和自主神经功能障碍的高发率。这些特征的认识将使早期诊断和及时筛选终末器官功能障碍。病理生理学的特征将有助于AGel淀粉样变的治疗选择的发展。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Hereditary gelsolin amyloidosis: a rare cause of cranial, peripheral and autonomic neuropathies linked to D187N and Y447H substitutions.

Introduction: Hereditary gelsolin (AGel) amyloidosis is a systemic disease that is characterised by neurologic, ophthalmologic, dermatologic, and other organ involvements. We describe the clinical features with a focus on neurological manifestations in a cohort of patients with AGel amyloidosis referred to the Amyloidosis Centre in the United States.

Methods: Fifteen patients with AGel amyloidosis were included in the study between 2005 and 2022 with the permission of the Institutional Review Board. Data were collected from the prospectively maintained clinical database, electronic medical records and telephone interviews.

Results: Neurologic manifestations were featured in 15 patients: cranial neuropathy in 93%, peripheral and autonomic neuropathy in 57% and bilateral carpal tunnel syndrome in 73% of cases. A novel p.Y474H gelsolin variant featured a unique clinical phenotype that differed from the one associated with the most common variant of AGel amyloidosis.

Discussion: We report high rates of cranial and peripheral neuropathy, carpal tunnel syndrome and autonomic dysfunction in patients with systemic AGel amyloidosis. The awareness of these features will enable earlier diagnosis and timely screening for end-organ dysfunction. The characterisation of pathophysiology will assist the development of therapeutic options in AGel amyloidosis.

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来源期刊
Amyloid-Journal of Protein Folding Disorders
Amyloid-Journal of Protein Folding Disorders 生物-生化与分子生物学
CiteScore
10.60
自引率
10.90%
发文量
48
审稿时长
6-12 weeks
期刊介绍: Amyloid: the Journal of Protein Folding Disorders is dedicated to the study of all aspects of the protein groups and associated disorders that are classified as the amyloidoses as well as other disorders associated with abnormal protein folding. The journals major focus points are: etiology, pathogenesis, histopathology, chemical structure, nature of fibrillogenesis; whilst also publishing papers on the basic and chemical genetic aspects of many of these disorders. Amyloid is recognised as one of the leading publications on amyloid protein classifications and the associated disorders, as well as clinical studies on all aspects of amyloid related neurodegenerative diseases and major clinical studies on inherited amyloidosis, especially those related to transthyretin. The Journal also publishes book reviews, meeting reports, editorials, thesis abstracts, review articles and symposia in the various areas listed above.
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