Novel mutations in FLVCR1 cause tremors, sensory neuropathy with retinitis pigmentosa.

IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY
Neuropathology Pub Date : 2024-04-01 Epub Date: 2023-07-19 DOI:10.1111/neup.12936
Zhenyu Li, Yize Li, Xujun Chu, Kang Du, Yuwei Tang, Zhiying Xie, Meng Yu, Jianwen Deng, He Lv, Wei Zhang, Zhaoxia Wang, Lingchao Meng, Yun Yuan
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引用次数: 0

Abstract

The mutations of the feline leukemia virus subgroup C receptor-related protein 1 (FLVCR1) cause ataxia with retinitis pigmentosa. Recent studies indicated a large variation in the phenotype of FLVCR1-associated diseases. In this report, we describe an adult male who manifested first with tremors in his third decade, followed by retinitis pigmentosa, sensory ataxia, and sensory neuropathy in his fourth decade. While retinitis pigmentosa and sensory ataxia are well-recognized features of FLVCR1-associated disease, tremor is rarely described. Whole-exome sequencing revealed novel compound heterozygous pathogenic FLVCR1 variants: c.498 G > A; p.(Trp166*) and c.369 T > G; p.(Phe123Leu). In addition, we have highlighted the ultrastructural abnormalities of the sural biopsy in this patient.

FLVCR1 的新型突变导致震颤、感觉神经病变和视网膜色素变性。
猫白血病病毒 C 亚群受体相关蛋白 1(FLVCR1)的突变会导致共济失调和视网膜色素变性。最近的研究表明,FLVCR1 相关疾病的表型差异很大。在本报告中,我们描述了一名成年男性,他在第三个十年首先表现为震颤,随后在第四个十年出现视网膜色素变性、感觉共济失调和感觉神经病变。虽然视网膜色素变性和感觉共济失调是FLVCR1相关疾病的公认特征,但震颤却很少被描述。全外显子组测序发现了新型复合杂合致病性 FLVCR1 变体:c.498 G > A; p.(Trp166*) 和 c.369 T > G; p.(Phe123Leu) 。此外,我们还强调了该患者硬膜活检的超微结构异常。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Neuropathology
Neuropathology 医学-病理学
CiteScore
4.10
自引率
4.30%
发文量
105
审稿时长
6-12 weeks
期刊介绍: Neuropathology is an international journal sponsored by the Japanese Society of Neuropathology and publishes peer-reviewed original papers dealing with all aspects of human and experimental neuropathology and related fields of research. The Journal aims to promote the international exchange of results and encourages authors from all countries to submit papers in the following categories: Original Articles, Case Reports, Short Communications, Occasional Reviews, Editorials and Letters to the Editor. All articles are peer-reviewed by at least two researchers expert in the field of the submitted paper.
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