Identifying extracerebellar characteristics in a large cohort of 319 Chinese patients with spinocerebellar ataxia type 3.
作者信息
Li Donghui, Yu Jinyang, Zhu Chenhao, Du Yichu, Ma Yin, Dong Yi, Wu Zhiying
机构信息
Department of Medical Genetics and Center for Rare Diseases, and Department of Neurology in Second Affiliated Hospital, and Zhejiang Key Laboratory of Rare Diseases for Precision Medicine and Clinical Translation, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310009, China.
Nanhu Brain-Computer Interface Institute, Hangzhou, Zhejiang 311100, China.
出版信息
Chin Med J (Engl). 2024 Sep 5;137(17):2131-2133. doi: 10.1097/CM9.0000000000003218. Epub 2024 Jul 19.
Abstract
摘要
相似文献
1
Identifying extracerebellar characteristics in a large cohort of 319 Chinese patients with spinocerebellar ataxia type 3.在319例中国3型脊髓小脑共济失调患者的大型队列中识别小脑外特征。
Chin Med J (Engl). 2024 Sep 5;137(17):2131-2133. doi: 10.1097/CM9.0000000000003218. Epub 2024 Jul 19.
2
A prospective study of SCA3 gait ataxia described through a Markovian method.采用马尔可夫方法对 SCA3 步态共济失调进行前瞻性研究。
Neuroepidemiology. 2010;34(3):163-70. doi: 10.1159/000279333. Epub 2010 Feb 2.
3
Nonmotor and extracerebellar features in Machado-Joseph disease: a review.非运动和小脑外特征在 Machado-Joseph 病中的表现：综述。
Mov Disord. 2013 Aug;28(9):1200-8. doi: 10.1002/mds.25513. Epub 2013 Jun 17.
4
Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease.3型脊髓小脑共济失调与马查多-约瑟夫病的分子与临床关联
Ann Neurol. 1995 Jul;38(1):68-72. doi: 10.1002/ana.410380113.
5
Genetic Analysis of GCA Repeats in the GLS Gene: Implications for Undiagnosed Ataxia and Spinocerebellar Ataxia 3 in Mainland China.GLS基因中GCA重复序列的遗传分析：对中国大陆未确诊共济失调和脊髓小脑共济失调3型的意义
Mov Disord. 2025 Feb;40(2):324-334. doi: 10.1002/mds.30083. Epub 2024 Dec 19.
6
Spinocerebellar ataxia type 4 is not detected in a cohort from Hokkaido, the northernmost island of Japan.在日本最北部岛屿北海道的一个队列中未检测到4型脊髓小脑共济失调。
J Neurol Sci. 2024 May 15;460:122974. doi: 10.1016/j.jns.2024.122974. Epub 2024 Mar 20.
7
[Machado-Joseph disease].[马查多-约瑟夫病]
No To Shinkei. 1995 Oct;47(10):939-45.
8
Investigation on modulation of DNA repair pathways in Chinese MJD patients.中国 MJD 患者 DNA 修复途径的调控研究。
Neurobiol Aging. 2018 Nov;71:267.e5-267.e6. doi: 10.1016/j.neurobiolaging.2018.06.024. Epub 2018 Jun 28.
9
[Spinocerebellar ataxia type 3 (Machado-Joseph disease) and varenicline].[3型脊髓小脑共济失调（马查多-约瑟夫病）与伐尼克兰]
Rev Med Chil. 2015 Sep;143(9):1221-2. doi: 10.4067/S0034-98872015000900019.
10
Somatic mosaicism in the central nervous system in spinocerebellar ataxia type 1 and Machado-Joseph disease.脊髓小脑共济失调1型和马查多-约瑟夫病中枢神经系统中的体细胞镶嵌现象。
Ann Neurol. 1996 Aug;40(2):199-206. doi: 10.1002/ana.410400211.
本文引用的文献
1
Disease progression of spinocerebellar ataxia types 1, 2, 3 and 6 before and after ataxia onset.脊髓小脑共济失调 1、2、3 和 6 型在共济失调发作前后的疾病进展。
Ann Clin Transl Neurol. 2023 Oct;10(10):1833-1843. doi: 10.1002/acn3.51875. Epub 2023 Aug 17.
2
Genotype-phenotype correlation in 667 Chinese families with spinocerebellar ataxia type 3.3 型脊髓小脑共济失调 667 个中国家系的基因型-表型相关性。
Parkinsonism Relat Disord. 2020 Sep;78:116-121. doi: 10.1016/j.parkreldis.2020.07.024. Epub 2020 Aug 4.
3
Clinical Characteristics, Radiological Features and Gene Mutation in 10 Chinese Families with Spinocerebellar Ataxias.10个中国脊髓小脑共济失调家系的临床特征、影像学表现及基因突变
Chin Med J (Engl). 2015 Jul 5;128(13):1714-23. doi: 10.4103/0366-6999.159340.
4
Inventory of Non-Ataxia Signs (INAS): validation of a new clinical assessment instrument.非共济失调体征清单（INAS）：一种新的临床评估工具的验证。
Cerebellum. 2013 Jun;12(3):418-28. doi: 10.1007/s12311-012-0421-3.
5
Spinocerebellar ataxia types 1, 2, 3, and 6: disease severity and nonataxia symptoms.脊髓小脑共济失调1型、2型、3型和6型：疾病严重程度及非共济失调症状
Neurology. 2008 Sep 23;71(13):982-9. doi: 10.1212/01.wnl.0000325057.33666.72. Epub 2008 Aug 6.
Zotero 插件