表现为帕金森综合征的脊髓小脑性共济失调2型两家系并文献复习

目的 总结表现为帕金森综合征的脊髓小脑性共济失调2型(SCA2)的临床、影像学和基因突变特点.方法与结果 纳入2019年5月至2020年12月在北京大学第一医院就诊的经基因检测诊断明确的表现为帕金森综合征的常染色体显性遗传性SCA2型两家系.两家系2例先证者均可见肌张力铅管样增高,症状与体征提示存在小脑性共济失调.眼震电图家系1先证者表现为凝视性眼震、扫视欠射、平稳跟踪能力下降和视动性眼震消失;家系2先证者表现为慢扫视、平稳跟踪能力下降和视动性眼震减少.头部MRI均显示第三脑室轻度扩张,家系2先证者还可见小脑和脑干萎缩.全外显子组测序未见帕金森病相关致病性变异;Sanger测序均显示ATXN2...

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Published in中国现代神经疾病杂志 Vol. 22; no. 8; pp. 723 - 728
Main Authors 万雅兰, 蒋岩岩, 周红, 郑艺明, 吕鹤, 赵桂萍, 陈静, 孙葳, 王朝霞
Format Journal Article
LanguageChinese
Published 100034 北京大学第一医院神经内科 01.08.2022
Subjects
突变
系谱
基因
三核苷酸重复扩增
帕金森障碍
脊髓小脑共济失调
Online AccessGet full text
ISSN1672-6731
DOI10.3969/j.issn.1672-6731.2022.08.012

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Abstract 目的 总结表现为帕金森综合征的脊髓小脑性共济失调2型(SCA2)的临床、影像学和基因突变特点.方法与结果 纳入2019年5月至2020年12月在北京大学第一医院就诊的经基因检测诊断明确的表现为帕金森综合征的常染色体显性遗传性SCA2型两家系.两家系2例先证者均可见肌张力铅管样增高,症状与体征提示存在小脑性共济失调.眼震电图家系1先证者表现为凝视性眼震、扫视欠射、平稳跟踪能力下降和视动性眼震消失;家系2先证者表现为慢扫视、平稳跟踪能力下降和视动性眼震减少.头部MRI均显示第三脑室轻度扩张,家系2先证者还可见小脑和脑干萎缩.全外显子组测序未见帕金森病相关致病性变异;Sanger测序均显示ATXN2基因CAG序列重复次数为37次.2例先证者最终诊断为SCA2型,两家系诊断为SCA2型家系.结论 SCA2型可以表现为帕金森综合征,左旋多巴治疗有效,易误诊为帕金森病.眼震电图有助于发现亚临床小脑病变.对有阳性家族史的帕金森综合征患者,合并小脑病变时建议行ATXN2基因检测.
AbstractList 目的 总结表现为帕金森综合征的脊髓小脑性共济失调2型(SCA2)的临床、影像学和基因突变特点.方法与结果 纳入2019年5月至2020年12月在北京大学第一医院就诊的经基因检测诊断明确的表现为帕金森综合征的常染色体显性遗传性SCA2型两家系.两家系2例先证者均可见肌张力铅管样增高,症状与体征提示存在小脑性共济失调.眼震电图家系1先证者表现为凝视性眼震、扫视欠射、平稳跟踪能力下降和视动性眼震消失;家系2先证者表现为慢扫视、平稳跟踪能力下降和视动性眼震减少.头部MRI均显示第三脑室轻度扩张,家系2先证者还可见小脑和脑干萎缩.全外显子组测序未见帕金森病相关致病性变异;Sanger测序均显示ATXN2基因CAG序列重复次数为37次.2例先证者最终诊断为SCA2型,两家系诊断为SCA2型家系.结论 SCA2型可以表现为帕金森综合征,左旋多巴治疗有效,易误诊为帕金森病.眼震电图有助于发现亚临床小脑病变.对有阳性家族史的帕金森综合征患者,合并小脑病变时建议行ATXN2基因检测.
Author 周红
赵桂萍
孙葳
王朝霞
陈静
万雅兰
吕鹤
蒋岩岩
郑艺明
AuthorAffiliation 100034 北京大学第一医院神经内科
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Author_FL CHEN Jing
ZHENG Yi-ming
WAN Ya-lan
JIANG Yan-yan
SUN Wei
WANG Zhao-xia
ZHOU Hong
Lü He
ZHAO Gui-ping
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Keywords 突变
系谱
基因
三核苷酸重复扩增
帕金森障碍
脊髓小脑共济失调
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