Artificial intelligence in presymptomatic neurological diseases: Bridging normal variation and prodromal signatures [0.03%]
人工智能在前症状期神经疾病中的应用：连接正常变异和前驱标志物
T Soulier,N Burgos,R Hassanaly et al.
T Soulier et al.
Presymptomatic neurological diseases are marked by early pathological changes that occur before overt clinical symptoms. These stages, which include prodromes such as REM sleep behavior disorder in Parkinson's or mild cognitive impairment i...
M Cohen
M Cohen
Most of widely available consumer devices like smartphones and tablets are equipped with various sensors that allow for detection of subtle and undetectable neurological impairment of various neurological functions like motricity, coordinat...
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...