S Dupont
S Dupont
Late-onset epilepsy (LOE) of unknown etiology accounts for 15-30% of all LOE cases. A critical question is whether these unexplained seizures represent a prodromal manifestation of an underlying neurological disorder - most notably, stroke ...
C Guémy,C Lefeuvre,E Berling et al.
C Guémy et al.
Late-onset Pompe disease (LOPD) is a genetic myopathy causing severe limb girdle and diaphragmatic weakness. Pre-symptomatic diagnosis of LOPD is increasing. Enzyme replacement therapy (ERT) has shown dramatic efficacy in infantile-onset fo...
Diagnostic & therapeutic challenges of presymptomatic hereditary transthyretin amyloidosis [0.03%]
术前遗传性转甲状腺素蛋白淀粉样变性的诊断及治疗挑战
A Echaniz-Laguna,V Algalarrondo
A Echaniz-Laguna
Hereditary transthyretin amyloidosis (ATTRv) is a rare, lethal, autosomal dominant adult-onset genetic disorder provoked by mutations in the TTR gene. Until recently, therapeutic options were limited to liver transplantation and TTR stabili...
Presymptomatic detection of spinal muscular atrophy: Ongoing revolution for a devastating disorder [0.03%]
脊肌萎缩症的无症状期检测：一场正在进行的革命性变化针对一种毁灭性疾病发声
V Laugel
V Laugel
Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder characterized by progressive degeneration of motoneurons, which used to lead in many cases to severe motor impairment and early death without treatment. In recent year...
Markers of presymptomatic amyotrophic lateral sclerosis: State of the art, practical implications and perspectives [0.03%]
无症状期肌萎缩侧索硬化标志物：现状、实际影响及未来展望
M-H Soriani,H Blasco,P Corcia et al.
M-H Soriani et al.
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with an identified genetic origin in 10-15% of cases, mainly involving C9orf72 and SOD1 mutations. The increasing number of genetically confirmed ALS cases has led to a grow...
D Wallon,A Garnier-Crussard
D Wallon
Alzheimer's disease (AD) is increasingly recognized as a decades-long process that begins before any first cognitive symptoms. Neuropathology and in vivo biomarker studies have revealed a silent preclinical phase. However, its precise defin...
Prodromal Parkinson's disease [0.03%]
帕金森病前驱期
L Grass,S Grimaldi,P Damier
L Grass
The neurodegenerative process responsible for Parkinson's disease (PD) begins years before the level of dopamine denervation of the basal ganglia leads to the characteristic clinical phenotype of the disease. During the past 20years, numero...
Lessons learned from 30 years of presymptomatic testing in Huntington Disease [0.03%]
亨廷顿舞蹈病前症状检测三十年经验教训
L Pierron,M Hébert,M Gargiulo et al.
L Pierron et al.
Presymptomatic testing allows individuals to undergo genetic testing for inherited diseases before symptoms manifest. While valuable in conditions with available preventive strategies, no therapeutic prevention currently exists for Huntingt...
In vivo molecular imaging of brain tissue pathology in presymptomatic multiple sclerosis [0.03%]
无症状多发性硬化脑组织病理的分子影像学在体研究
V A G Ricigliano,B Stankoff
V A G Ricigliano
The presence of focal lesions suggestive of multiple sclerosis (MS) seen with magnetic resonance imaging (MRI) in asymptomatic individuals defines the radiologically isolated syndrome (RIS). Pathologically, tissue changes in RIS subjects re...
Tracing Neurological Diseases in the presymptomatic phase: moving forward a detection panel [0.03%]
无症状期神经系统疾病的发生发展及检测标志物的筛选面板
M Rival,E Thouvenot
M Rival
Neurodegenerative diseases such as Alzheimer's disease (AD), Parkinson's disease (PD), frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), and multiple sclerosis (MS) often exhibit a prolonged presymptomatic phase during whi...