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Possible mechanisms connecting cerebellar ataxias and bilateral vestibular weakness: diagnostic and therapeutic implications.

作者信息

Cherchi Marcello

机构信息

Department of Neurology, University of Chicago, Chicago, IL, USA.

出版信息

J Neurol. 2024 Dec 12;272(1):14. doi: 10.1007/s00415-024-12794-3.

DOI:10.1007/s00415-024-12794-3
PMID:39666156
Abstract
摘要

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本文引用的文献

1
Clinical, Radiological and Pathological Features of a Large American Cohort of Spinocerebellar Ataxia (SCA27B).美国大型脊髓小脑性共济失调(SCA27B)队列的临床、放射学和病理学特征。
Ann Neurol. 2024 Dec;96(6):1092-1103. doi: 10.1002/ana.27060. Epub 2024 Sep 12.
2
Oculomotor and Vestibular Deficits in Friedreich Ataxia - Systematic Review and Meta-Analysis of Quantitative Measurements.Friedreich 共济失调的眼球运动和前庭功能障碍——定量测量的系统评价和荟萃分析。
Cerebellum. 2024 Dec;23(6):2269-2284. doi: 10.1007/s12311-024-01716-8. Epub 2024 Jul 27.
3
GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort.
GAA-FGF14 病:在一个大型摆动性眼球震颤队列中确定其频率、分子基础和 4-氨基吡啶反应。
EBioMedicine. 2024 Apr;102:105076. doi: 10.1016/j.ebiom.2024.105076. Epub 2024 Mar 19.
4
Effectiveness of Vestibular Rehabilitation for Patients with Degenerative Cerebellar Ataxia: A Retrospective Cohort Study.退行性小脑共济失调患者的前庭康复疗效:一项回顾性队列研究
Brain Sci. 2023 Oct 28;13(11):1520. doi: 10.3390/brainsci13111520.
5
Clinical value of vestibulo-ocular reflex in the differentiation of spinocerebellar ataxias.前庭眼反射在脊髓小脑共济失调鉴别诊断中的临床价值。
Sci Rep. 2023 Sep 7;13(1):14783. doi: 10.1038/s41598-023-41924-6.
6
Frequency and Phenotype of Repeat Expansions in Bilateral Vestibulopathy.双侧前庭病中重复扩展的频率和表型。
Neurology. 2023 Sep 5;101(10):e1001-e1013. doi: 10.1212/WNL.0000000000207553. Epub 2023 Jul 17.
7
Intronic GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy.内含子 GAA 重复扩展是伴有周围神经病和双侧前庭病的共济失调综合征的常见病因。
J Neurol Neurosurg Psychiatry. 2024 Jan 11;95(2):175-179. doi: 10.1136/jnnp-2023-331490.
8
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14.FGF14基因内含子中的GAA重复序列扩增导致常染色体显性成年起病型共济失调SCA27B/ATX-FGF14。
Am J Hum Genet. 2023 Jun 1;110(6):1018. doi: 10.1016/j.ajhg.2023.05.005.
9
-Related Disease: Molecular and Clinical Insights.相关疾病:分子与临床见解
Neurol Genet. 2022 Aug 29;8(5):e200016. doi: 10.1212/NXG.0000000000200016. eCollection 2022 Oct.
10
Expanding the Clinical Spectrum of RFC1 Gene Mutations.扩展 RFC1 基因突变的临床谱
J Mov Disord. 2022 May;15(2):167-170. doi: 10.14802/jmd.21117. Epub 2022 Mar 22.