RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome.,Brain

当前位置： X-MOL 学术 › Brain › 论文详情

Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)

RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome.
Brain ( IF 10.6 ) Pub Date : 2020-09-19 , DOI: 10.1093/brain/awaa244
Kishore R Kumar _{1,

2,

3,

4} , Andrea Cortese _{5,

6} , Susan E Tomlinson _{3,

7} , Stephanie Efthymiou ₅ , Melina Ellis ₈ , Danqing Zhu ₁ , Marion Stoll ₁ , Natalia Dominik ₅ , Stephen Tisch _{7,

9} , Michel Tchan _{3,

10} , Kathy H C Wu _{9,

11,

12} , Sophie Devery ₁₁ , Penelope J Spring ₂ , Simon Hawke _{3,

13,

14} , Phillip Cremer _{3,

15} , Karl Ng _{3,

15} , Mary M Reilly ₅ , Garth A Nicholson _{1,

2,

3,

8} , Henry Houlden ₅ , Marina Kennerson _{1,

3,

8}

Affiliation

Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, NSW, Australia.
Neurology Department, Concord Repatriation General Hospital, Sydney, NSW, Australia.
Sydney Medical School, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.
Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
Department of Neurology, St Vincent's Hospital, Darlinghurst, Sydney, Australia.
Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, NSW, Australia.
School of Medicine, University of New South Wales, Sydney, Australia.
Department of Genetic Medicine, Westmead Hospital, Westmead, NSW, 2145, Australia.
St Vincent's Clinical Genomics, St Vincent's Hospital, Sydney, Australia.
Discipline of Genetic Medicine, University of Sydney, Sydney, Australia.
Vascular Immunology Unit Department of Pathology, The University of Sydney, Sydney, NSW Australia.
Central West Neurology and Neurosurgery, Orange, NSW Australia.
Royal North Shore Hospital, Pacific Hwy, St Leonards, NSW 2065, Australia.

We read with great interest the article by Cortese and colleagues (2020) describing 100 carriers of the RFC1 expansion. This study explores the phenotypic spectrum of RFC1 expansions, identified as a cause of cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) and late onset ataxia (Cortese et al., 2019; Rafehi et al., 2019). They concluded that RFC1 should be considered in all cases of sensory ataxic neuropathy, especially if there are manifestations of cerebellar impairment, vestibular dysfunction, and cough.

中文翻译：

RFC1 扩展可以模拟具有咳嗽和干燥综合征的遗传性感觉神经病。

我们饶有兴趣地阅读了 Cortese 及其同事（2020 年）描述RFC1扩展的100 个运营商的文章。本研究探索了RFC1扩增的表型谱，被确定为小脑共济失调、神经病变和前庭反射消失综合征 (CANVAS) 和迟发性共济失调的原因（Cortese等人，2019 年；Rafehi等人，2019 年）。他们得出的结论是，在所有感觉性共济失调性神经病病例中都应考虑RFC1，特别是如果有小脑损伤、前庭功能障碍和咳嗽的表现。

更新日期：2020-10-26

点击分享查看原文

点击收藏

阅读更多本刊最新论文本刊介绍/投稿指南11