Amyotrophic lateral sclerosis: a clinical review.
Amyotrophic lateral sclerosis: a clinical review.
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DOI：
10.1111/ene.14393
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发表时间：
2020-10
影响因子：
5.1
通讯作者：
Van Damme P
中科院分区：
文献类型：
--
作者：
Masrori P;Van Damme P
肌萎缩侧索硬化症（ALS）是一种主要影响运动系统的神经退行性疾病，但其中运动外表现越来越多地被认识到。运动皮层、脑干核和脊髓前角中的上下运动神经元的丧失引起进行性肌肉无力和消瘦。ALS通常是局灶性发病，但随后会扩散到不同的身体区域，其中呼吸肌衰竭通常会限制疾病发作后2-5年的生存期。在高达50%的病例中，有额外的运动表现，如行为变化，执行功能障碍和语言问题。在10%-15%的患者中，这些问题严重到足以满足额颞叶痴呆（FTD）的临床标准。在10%的ALS患者中，家族史提示常染色体显性遗传模式。其余90%没有受影响的家庭成员，被归类为散发性ALS。ALS的原因似乎是异质性的，只有部分理解。到目前为止，已经有20多个基因与ALS相关。最常见的遗传原因是C9 orf 72基因中的六核苷酸重复扩增，导致30%-50%的家族性ALS和7%的散发性ALS。这些扩展也是额颞叶痴呆的常见原因，强调ALS和FTD之间的分子重叠。直到今天，ALS还没有治愈或有效的治疗方法，治疗的基石仍然是多学科护理，包括营养和呼吸支持以及症状管理。本文就ALS的流行病学、病因学、发病机制、临床特点、鉴别诊断、研究、治疗及展望等方面进行综述。
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder affecting primarily the motor system, but in which extra‐motor manifestations are increasingly recognized. The loss of upper and lower motor neurons in the motor cortex, the brain stem nuclei and the anterior horn of the spinal cord gives rise to progressive muscle weakness and wasting. ALS often has a focal onset but subsequently spreads to different body regions, where failure of respiratory muscles typically limits survival to 2–5 years after disease onset. In up to 50% of cases, there are extra‐motor manifestations such as changes in behaviour, executive dysfunction and language problems. In 10%–15% of patients, these problems are severe enough to meet the clinical criteria of frontotemporal dementia (FTD). In 10% of ALS patients, the family history suggests an autosomal dominant inheritance pattern. The remaining 90% have no affected family members and are classified as sporadic ALS. The causes of ALS appear to be heterogeneous and are only partially understood. To date, more than 20 genes have been associated with ALS. The most common genetic cause is a hexanucleotide repeat expansion in the C9orf72 gene, responsible for 30%–50% of familial ALS and 7% of sporadic ALS. These expansions are also a frequent cause of frontotemporal dementia, emphasizing the molecular overlap between ALS and FTD. To this day there is no cure or effective treatment for ALS and the cornerstone of treatment remains multidisciplinary care, including nutritional and respiratory support and symptom management. In this review, different aspects of ALS are discussed, including epidemiology, aetiology, pathogenesis, clinical features, differential diagnosis, investigations, treatment and future prospects.
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DOI：
10.1093/brain/awx370
发表时间：
2018-03-01
期刊：
Brain : a journal of neurology
影响因子：
--
作者：
Brenner D;Yilmaz R;Müller K;Grehl T;Petri S;Meyer T;Grosskreutz J;Weydt P;Ruf W;Neuwirth C;Weber M;Pinto S;Claeys KG;Schrank B;Jordan B;Knehr A;Günther K;Hübers A;Zeller D;Kubisch C;Jablonka S;Sendtner M;Klopstock T;de Carvalho M;Sperfeld A;Borck G;Volk AE;Dorst J;Weis J;Otto M;Schuster J;Del Tredici K;Braak H;Danzer KM;Freischmidt A;Meitinger T;Strom TM;Ludolph AC;Andersen PM;Weishaupt JH;German ALS network MND-NET
通讯作者：
German ALS network MND-NET
DOI：
10.1126/science.aaa3650
发表时间：
2015-03-27
期刊：
Science (New York, N.Y.)
影响因子：
--
作者：
Cirulli ET;Lasseigne BN;Petrovski S;Sapp PC;Dion PA;Leblond CS;Couthouis J;Lu YF;Wang Q;Krueger BJ;Ren Z;Keebler J;Han Y;Levy SE;Boone BE;Wimbish JR;Waite LL;Jones AL;Carulli JP;Day-Williams AG;Staropoli JF;Xin WW;Chesi A;Raphael AR;McKenna-Yasek D;Cady J;Vianney de Jong JM;Kenna KP;Smith BN;Topp S;Miller J;Gkazi A;FALS Sequencing Consortium;Al-Chalabi A;van den Berg LH;Veldink J;Silani V;Ticozzi N;Shaw CE;Baloh RH;Appel S;Simpson E;Lagier-Tourenne C;Pulst SM;Gibson S;Trojanowski JQ;Elman L;McCluskey L;Grossman M;Shneider NA;Chung WK;Ravits JM;Glass JD;Sims KB;Van Deerlin VM;Maniatis T;Hayes SD;Ordureau A;Swarup S;Landers J;Baas F;Allen AS;Bedlack RS;Harper JW;Gitler AD;Rouleau GA;Brown R;Harms MB;Cooper GM;Harris T;Myers RM;Goldstein DB
通讯作者：
Goldstein DB
影响因子：
14.5
作者：
Burrell, James R.;Kiernan, Matthew C.;Hodges, John R.
通讯作者：
Hodges, John R.
影响因子：
5.4
作者：
Buratti, Emanuele;De Conti, Laura;Baralle, Francisco
通讯作者：
Baralle, Francisco
影响因子：
11
作者：
De Schaepdryver, Maxim;Jeromin, Andreas;Poesen, Koen
通讯作者：
Poesen, Koen