Friedreich ataxia: clinical features and new developments.

IF 2.3 Q3 CLINICAL NEUROLOGY Neurodegenerative disease management Pub Date : 2022-10-01 Epub Date: 2022-06-29 DOI:10.2217/nmt-2022-0011
Medina Keita, Kellie McIntyre, Layne N Rodden, Kim Schadt, David R Lynch
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引用次数: 13

Abstract

Friedreich's ataxia (FRDA), a neurodegenerative disease characterized by ataxia and other neurological features, affects 1 in 50,000-100,000 individuals in the USA. However, FRDA also includes cardiac, orthopedic and endocrine dysfunction, giving rise to many secondary disease characteristics. The multifaceted approach for clinical care has necessitated the development of disease-specific clinical care guidelines. New developments in FRDA include the advancement of clinical drug trials targeting the NRF2 pathway and frataxin restoration. Additionally, a novel understanding of gene silencing in FRDA, reflecting a variegated silencing pattern, will have applications to current and future therapeutic interventions. Finally, new perspectives on the neuroanatomy of FRDA and its developmental features will refine the time course and anatomical targeting of novel approaches.

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弗里德里希共济失调:临床特点和新进展。
弗里德里希共济失调(FRDA)是一种以共济失调和其他神经系统特征为特征的神经退行性疾病,在美国,每5-10万人中就有1人患有这种疾病。然而,FRDA还包括心脏、骨科和内分泌功能障碍,从而产生许多继发性疾病特征。临床护理的多方面方法使得制定针对特定疾病的临床护理指南成为必要。FRDA的新进展包括靶向NRF2途径和frataxin修复的临床药物试验的进展。此外,对FRDA中基因沉默的新理解,反映了一种多样化的沉默模式,将在当前和未来的治疗干预中得到应用。最后,对FRDA的神经解剖学及其发育特征的新观点将完善新方法的时间进程和解剖学靶向。
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来源期刊
CiteScore
4.30
自引率
0.00%
发文量
35
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