Neurological disorders are still one of the major causes of death,and the vast need to find efficacious therapy is nowadays an essential goal of the scientific community.For Parkinson's disease(PD),amyotrophic lat...Neurological disorders are still one of the major causes of death,and the vast need to find efficacious therapy is nowadays an essential goal of the scientific community.For Parkinson's disease(PD),amyotrophic lateral sclerosis(ALS),spinal cord injury,and intracerebral hemorrhage.展开更多
Amyotrophic lateral sclerosis(ALS)is a highly aggressive adult-onset neurodegenerative disease caused by the progressive loss of upper and lower motor neurons.Clinically,it causes irreversible muscle atrophy and spast...Amyotrophic lateral sclerosis(ALS)is a highly aggressive adult-onset neurodegenerative disease caused by the progressive loss of upper and lower motor neurons.Clinically,it causes irreversible muscle atrophy and spasticity,leading to death due to respiratory failure,usually within 2–5 years after the first symptom onset.Approximately 85%of ALS cases are classified as sporadic,while the remaining 15%are of familial origin,but the overall clinical and molecular features of the disease are almost undistinguishable in the two forms.The majority of familial ALS cases are caused by pathogenic variants of C9orf72,SOD1,TARDBP,FUS,ANG and OPTN genes that are inherited by a Mendelian pattern and display high penetrance(Kiernan et al.,2020).展开更多
基金“Re Nic ALS” grant from Ari SLA–Fondazione Italiana di ricerca per la SLA to SA。
文摘Neurological disorders are still one of the major causes of death,and the vast need to find efficacious therapy is nowadays an essential goal of the scientific community.For Parkinson's disease(PD),amyotrophic lateral sclerosis(ALS),spinal cord injury,and intracerebral hemorrhage.
文摘Amyotrophic lateral sclerosis(ALS)is a highly aggressive adult-onset neurodegenerative disease caused by the progressive loss of upper and lower motor neurons.Clinically,it causes irreversible muscle atrophy and spasticity,leading to death due to respiratory failure,usually within 2–5 years after the first symptom onset.Approximately 85%of ALS cases are classified as sporadic,while the remaining 15%are of familial origin,but the overall clinical and molecular features of the disease are almost undistinguishable in the two forms.The majority of familial ALS cases are caused by pathogenic variants of C9orf72,SOD1,TARDBP,FUS,ANG and OPTN genes that are inherited by a Mendelian pattern and display high penetrance(Kiernan et al.,2020).
