检索结果-南通市图书馆

Clinical feature difference between juvenile amyotrophic lateral sclerosis with sptlc1 and FUS mutations

Chinese Medical Journal 2023年第2期136卷 176-183页

作者： Peishan Wang Qiao Wei Hongfu Li Zhi-Ying Wu Department of Neurology Second Affiliated HospitalZhejiang University School of Medicineand Key Laboratory of Medical Neurobiology of Zhejiang ProvinceHangzhouZhejiang 310009China Department of Medical Genetics Second Affiliated HospitalZhejiang University School of MedicineHangzhouZhejiang 310009China

Background: Juvenile amyotrophic lateral sclerosis (JALS) is an uncommon form of amyotrophic lateral sclerosis whose age at onset (AAO) is defined as prior to 25 years. FUS mutations are the most common cause of JALS. sptlc1 was recently identified as a disease-causative gene for JALS, which has rarely been reported in Asian populations. Little is known regarding the difference in clinical features between JALS patients carrying FUS and sptlc1 mutations. This study aimed to screen mutations in JALS patients and to compare the clinical features between JALS patients with FUS and sptlc1 mutations. Methods: Sixteen JALS patients were enrolled, including three newly recruited patients between July 2015 and August 2018 from the Second Affiliated Hospital, Zhejiang University School of Medicine. Mutations were screened by whole-exome sequencing. In addition, clinical features such as AAO, onset site and disease duration were extracted and compared between JALS patients carrying FUS and sptlc1 mutations through a literature review. Results: A novel and de novo sptlc1 mutation (c.58G>A, p.A20T) was identified in a sporadic patient. Among 16 JALS patients, 7/16 carried FUS mutations and 5/16 carried respective sptlc1 , SETX , NEFH , DCTN1 , and TARDBP mutations. Compared with FUS mutation patients, those with sptlc1 mutations had an earlier AAO (7.9 ± 4.6 years vs. 18.1 ± 3.9 years, P 1), much longer disease duration (512.0 [416.7-607.3] months vs. 33.4 [21.6-45.1] months, P 1), and no onset of bulbar. Conclusion: Our findings expand the genetic and phenotypic spectrum of JALS and help to better understand the genotype-phenotype correlation of JALS.

关键词： FUS Juvenile amyotrophic lateral sclerosis Phenotype sptlc1

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

sptlc1基因突变所致遗传性感觉自主神经病1例

引用

中国神经精神疾病杂志 2020年第12期46卷 745-747页

作者：陈光栾兴华曹立张梅安徽理工大学医学院淮南232001 上海交通大学附属第六人民医院神经内科安徽理工大学第一附属医院淮南市第一人民医院

遗传性感觉自主神经病(hereditary sensory autonomic neuropathy,HSAN),是一组以感觉障碍为主的遗传性周围神经病,具有临床及遗传异质性。临床表现为四肢对称性感觉减退、肌无力和肌肉萎缩,伴有自主神经功能障碍[1-2]。遗传性感觉自主... 详细信息

遗传性感觉自主神经病(hereditary sensory autonomic neuropathy,HSAN),是一组以感觉障碍为主的遗传性周围神经病,具有临床及遗传异质性。临床表现为四肢对称性感觉减退、肌无力和肌肉萎缩,伴有自主神经功能障碍[1-2]。遗传性感觉自主神经病1型(HSAN1)是一种罕见的常染色体显性遗传病,为HSAN最常见的类型,主要表现为肢体远端感觉功能障碍[3-4]。本文探讨一例sptlc1(serine palmitoyltransferase long chain base subunit 1)基因突变所致HSAN1的临床、病理、电生理和遗传学特点,给予L-丝氨酸口服及足部正畸治疗随访观察,对其基因突变进行分析。

关键词： sptlc1 遗传性感觉自主神经病 L-丝氨酸马蹄内翻足矫形术

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

Identifying Unique Protein Alterations Caused by sptlc1 Mutations in a Transfected Neuronal Cell Model

引用

World Journal of Neuroscience 2016年第4期6卷 325-347页

作者： Scott E. Stimpson Anu Shanu Jens R. Coorssen Simon J. Myers Neuro-Cell Biology Laboratory Western Sydney University Penrith Australia Molecular Medicine Research Group Western Sydney University Penrith Australia School of Science and Health Western Sydney University Penrith Australia School of Medicine Western Sydney University Penrith Australia Molecular Physiology Western Sydney University Penrith Australia

Hereditary sensory neuropathy type I is an autosomal dominant disorder that affects the sensory neurons. Three missense mutations in serine palmitoyltransferase long chain subunit 1 cause hereditary sensory neuropathy type I. The endoplasmic reticulum, where the serine palmitoyltransferase long chain subunit 1 protein resides, and mitochondria are both altered in hereditary sensory neuropathy type I mutant cells. Employing a transfected neuronal cell line (ND15), we have identified and confirmed altered protein expression levels of ubiquinol cytochrome C, Hypoxia Up regulated Protein 1, Chloride Intracellular Channel Protein 1, Ubiqutin-40s Ribosomal Protein S27a, and Coactosin. Additionally, further 14 new proteins that exhibited altered expression within V144D, C133W and C133Y mutants were identified. These data have shown that mutations in sptlc1 alter the expression of a set of proteins that may help to establish a causal link between the mitochondria and ER and the “dying back” process of dorsal root ganglion neurons that occurs in HSN-I.

关键词： Hereditary Sensory Neuropathy Type 1 ND15 sptlc1 ER Stress Coactosin

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

显性遗传性和特发性感觉神经病的sptlc1和RAB7突变分析

引用

世界核心医学期刊文摘（神经病学分册） 2005年第10期1卷 34-34页

作者： Klein C.J. Kruckeberg K.E. 周永 Mayo Clinic 200 First Street SW Rochester MN 55905 United States Dr.

Background: The variable clinical features of hereditary sensory and autonomi c neuropathy (HSAN I) suggest heterogeneity. Some cases of idiopathic sensory ne uropathy could be caused by missense mutations of sptlc1 and RAB7 and not be rec ognised as familial. Objective: To screen persons with dominantly inherited HSAN I and others with idiopathic sensory neuropathies for known mutations of sptlc1 and RAB7. Patients: DNA was examined from well characterised individuals of 25 kindreds with adult onset HSAN I for mutations of sptlc1 and RAB7; 92 patients w ith idiopathic sensory neuropathy were also screened for known mutations of thes e genes. Results: Of the 25 kindreds, only one had a mutation (sptlc1 399T→ G). This kindred, and 10 without identified mutations, had prominent mutilating foo t injuries with peroneal weakness. Of the remainder, 12 had foot insensitivity w ith injuries but no weakness, one had restless legs and burning feet, and one ha d dementia with hearing loss. No mutation of RAB7 was found in any of these. No known mutations of sptlc1 or RAB7 were found in cases of idiopathic sensory neur opathy. Conclusions: Adult onset HSAN I is clinically and genetically heterogene ous and further work is required to identify additional genetic causes. Known SP TLC1 or RAB7 mutations were not found in idiopathic sensory neuropathy.

关键词：突变分析 RAB7 sptlc1 听力丧失显性遗传腓骨肌基因突变异质性族性遗传学机制

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

欢迎您,

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

在线全文

请选择保存的检索档案：

请选择收藏分类：

通借通还

欢迎您,

建议与咨询 留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

在线全文

请选择保存的检索档案： 新增检索档案 确定 取消

请选择收藏分类： 新增自定义分类 确定 取消

通借通还

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

请选择保存的检索档案：

请选择收藏分类：