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典型文献
Novel insights into the pathogenesis of DYT1 dystonia from induced patient-derived neurons
文献摘要:
Dystonia is a common movement disorder characterized by sustained or intermittent muscle contractions causing abnormal movements and/or postures (Keller Sarmiento and Mencacci, 2021). The dystonic syndromes are classified as primary dystonia (dystonia is the only motor feature without tremor) and the secondary dystonia (dystonia is combined with other movement disorders, such as Parkinsonism). Based on the age of onset, dystonias are also dichotomously classified as childhood onset or adulthood onset. The distribution of affected body parts may change over time and progressively spread of dystonia to previously uninvolved sites. Because the clinical characteristics and underlying causes of dystonia are very heterogeneous, the pathological mechanisms of dystonia remain largely unknown. The diagnosis and etiological definition of this disorder remain challenges. The current therapies, such as anticholinergics, intramuscular botulinum toxin injection and deep brain stimulation, are largely symptom-based and only partially satisfactory (Balint et al., 2018). The childhood-onset torsin dystonia, also called DYT1 dystonia, represents the most frequent and severe form of hereditary primary dystonia, providing an excellent example to understand the pathogenesis of this disease (Gonzalez-Alegre, 2019; Keller Sarmiento and Mencacci, 2021).
文献关键词:
作者姓名:
Baojin Ding
作者机构:
Department of Biology,University of Louisiana at Lafayette,Lafayette,LA,USA
引用格式:
[1]Baojin Ding-.Novel insights into the pathogenesis of DYT1 dystonia from induced patient-derived neurons)[J].中国神经再生研究(英文版),2022(03):561-562
A类:
DYT1,Dystonia,Mencacci,dystonias,dichotomously,uninvolved,anticholinergics,Balint,torsin
B类:
Novel,insights,into,pathogenesis,from,induced,patient,derived,neurons,common,characterized,by,sustained,intermittent,muscle,contractions,causing,abnormal,movements,postures,Keller,Sarmiento,dystonic,syndromes,are,classified,primary,only,motor,feature,without,tremor,secondary,combined,other,disorders,such,Parkinsonism,Based,age,onset,also,childhood,adulthood,distribution,affected,body,parts,may,change,over,progressively,spread,previously,sites,Because,clinical,characteristics,underlying,causes,very,heterogeneous,pathological,mechanisms,remain,largely,unknown,diagnosis,etiological,definition,this,challenges,current,therapies,intramuscular,botulinum,toxin,injection,deep,brain,stimulation,symptom,partially,satisfactory,called,represents,most,frequent,severe,form,hereditary,providing,excellent,example,understand,disease,Gonzalez,Alegre
AB值:
0.532211
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