Rapidly Progressive Atypical Parkinsonism as a Presenting Feature of ATX- (SCA42).
作者信息
Martínez-Villota Viviana A, Castillo-Torres Sergio A, Rossi Malco, Merello Marcelo
机构信息
Servicio de Movimientos Anormales, Departamento de Neurología, Fleni Buenos Aires Argentina.
Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET) Buenos Aires Argentina.
出版信息
Mov Disord Clin Pract. 2023 Mar 16;10(4):713-715. doi: 10.1002/mdc3.13704. eCollection 2023 Apr.
Abstract
摘要
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本文引用的文献
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NGS in Hereditary Ataxia: When Rare Becomes Frequent.遗传性共济失调中的 NGS：从罕见变为常见。
Int J Mol Sci. 2021 Aug 6;22(16):8490. doi: 10.3390/ijms22168490.
2
Abnormal DaTSCAN and Atypical Parkinsonism in SCA12.SCA12中的异常DaTSCAN与非典型帕金森综合征
Mov Disord Clin Pract. 2019 Mar 28;6(5):400-402. doi: 10.1002/mdc3.12751. eCollection 2019 Jun.
3
Ataxic phenotype with altered Ca3.1 channel property in a mouse model for spinocerebellar ataxia 42.小脑共济失调 42 型小鼠模型的钙通道特性改变导致的共济失调表型。
Neurobiol Dis. 2019 Oct;130:104516. doi: 10.1016/j.nbd.2019.104516. Epub 2019 Jun 20.
4
Movement Disorders in Autosomal Dominant Cerebellar Ataxias: A Systematic Review.常染色体显性遗传性小脑共济失调中的运动障碍：一项系统综述。
Mov Disord Clin Pract. 2014 Jun 6;1(3):154-160. doi: 10.1002/mdc3.12042. eCollection 2014 Sep.
5
De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.对儿童期起病小脑萎缩症进行从头突变筛查，鉴定出 CACNA1G 钙通道基因突变导致功能获得。
Brain. 2018 Jul 1;141(7):1998-2013. doi: 10.1093/brain/awy145.
6
SCA42 mutation analysis in a case series of Japanese patients with spinocerebellar ataxia.对一组日本脊髓小脑性共济失调患者的 SCA42 突变进行分析。
J Hum Genet. 2017 Sep;62(9):857-859. doi: 10.1038/jhg.2017.51. Epub 2017 May 11.
7
A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia.低电压门控钙通道CACNA1G中的一种突变改变了通道的生理特性，导致脊髓小脑共济失调。
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A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia.CACNA1G基因的复发性突变改变Cav3.1 T型钙通道传导并导致常染色体显性遗传性小脑共济失调。
Am J Hum Genet. 2015 Nov 5;97(5):726-37. doi: 10.1016/j.ajhg.2015.09.007. Epub 2015 Oct 8.
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