Hot Cross Bun Sign in Progressive Ataxia with ELOVL4 Mutation-Case Report.
作者信息
Moreno-Escobar Maria, Tripathi Richa
机构信息
Department of Neurology West Virginia University Morgantown West Virginia USA.
Rockefeller Neuroscience Institute Morgantown West Virginia USA.
出版信息
Mov Disord Clin Pract. 2022 Apr 22;9(8):1114-1115. doi: 10.1002/mdc3.13447. eCollection 2022 Nov.
Abstract
摘要
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本文引用的文献
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2
Spinocerebellar ataxias (SCAs) caused by common mutations.常染色体显性小脑共济失调（SCAs）。
Neurogenetics. 2021 Oct;22(4):235-250. doi: 10.1007/s10048-021-00662-5. Epub 2021 Aug 16.
3
Congenital Ichthyosis in a Case of Spinocerebellar Ataxia Type 34: A Novel Presentation for a Known Mutation.34型脊髓小脑共济失调病例中的先天性鱼鳞病：一种已知突变的新表现。
Mov Disord Clin Pract. 2021 Jan 11;8(2):275-278. doi: 10.1002/mdc3.13123. eCollection 2021 Feb.
4
Characterization of the phenotype with cognitive impairment and protein mislocalization in SCA34.SCA34中伴有认知障碍和蛋白质错误定位的表型特征
Neurol Genet. 2020 Feb 20;6(2):e403. doi: 10.1212/NXG.0000000000000403. eCollection 2020 Apr.
5
Neuroradiological Findings in the Spinocerebellar Ataxias.脊髓小脑共济失调的神经放射学表现
Tremor Other Hyperkinet Mov (N Y). 2019 Sep 26;9. doi: 10.7916/tohm.v0.682. eCollection 2019.
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Novel Cellular Functions of Very Long Chain-Fatty Acids: Insight From ELOVL4 Mutations.超长链脂肪酸的新型细胞功能：来自ELOVL4突变的见解
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7
Prevalence and clinicoradiological features of spinocerebellar ataxia type 34 in a Japanese ataxia cohort.日本共济失调队列中脊髓小脑性共济失调 34 型的患病率和临床放射学特征。
Parkinsonism Relat Disord. 2019 Aug;65:238-242. doi: 10.1016/j.parkreldis.2019.05.019. Epub 2019 May 13.
8
A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia: A Broadened Spectrum of SCA34.ELOVL4 基因新突变导致的具有“热十字面包征”而无红皮角化病的脊髓小脑共济失调（SCA）：SCA34 的谱拓宽。
JAMA Neurol. 2015 Jul;72(7):797-805. doi: 10.1001/jamaneurol.2015.0610.
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