,Design by Joker,What is Als,目录,ALS的案例,ALS的简介,ALS的治疗与预防,1,1.1 ALS的大致介绍,Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrigs disease and Charcot disease, is a specific disorder that involves the death of neurons.1 In the United Kingdom the term motor neurone disease (MND) is commonly used,2 while others use that term for a group of five conditions of which ALS is the most common.3 ALS is characterized by stiff muscles, muscle twitching, and gradually worsening weakness due to muscle wasting. This results in difficulty speaking, swallowing, and eventually breathing.,What is ALS,肌萎缩性脊髓侧索硬化症(ALS),也被称为卢伽雷氏症,夏科氏病,是一个特定的疾病,涉及到神经元的死亡。1在英国运动神经元病(MND)这一术语常用,2而其他人使用这个词一群五条件ALS是最常见的。3ALS的特点是僵硬的肌肉,肌肉抽搐,逐步恶化的弱点由于肌肉萎缩。这导致难度来说,吞咽,最终呼吸衰竭。,ALS的案例,ALS简介,ALS的治疗与预防,2,2.1 ALS的病因,（1）A defect on chromosome 21, which codes for superoxide dismutase, is associated with about 20% of familial cases of ALS, or about 2% of ALS cases overall.323334 This mutation is believed to be transmitted in an autosomal dominant manner, and has over a hundred different forms of mutation. The most common ALS-causing mutation is a mutant SOD1 gene, seen in North America; this is characterized by an exceptionally rapid progression from onset to death. The most common mutation found in Scandinavian countries, D90A-SOD1, is more slowly progressive than typical ALS, and people with this form of the disorder survive for an average of 11 years,An MRI with increased signal in the posterior part of the internal capsule which can be tracked to the motor cortex consistent with the diagnosis of ALS. Classification and external resources,21号染色体上的一个缺陷,这对超氧化物歧化酶代码,与家族例ALS的20%左右,或ALS案件总数的2%左右。323334这种突变被认为是传播的一种常染色体显性遗传方式,并有超过一百个不同形式的突变。最常见的ALS-causing突变SOD1基因突变是一个,在北美,这是特点是异常迅速发展从发病到死亡。最常见的突变在斯堪的纳维亚国家,D90A-SOD1,比典型的ALS,慢慢进步,这种形式的障碍患者生存时间平均为11年。,ALS的案例,ALS的简介,ALS的治疗与预防,2,2.2、2.3 ALS的病因,（2）About 510% of cases are directly inherited from a persons parents.Overall, first-degree relatives of an individual with ALS have a 1% risk of developing ALS.,约5 - 10%的病例是直接继承自一个人的父母。总的来说,一个人的直系亲属与ALS有1%患ALS的风险,MRI (axial FLAIR) demonstrates increased T2 signal within the posterior part of the internal capsule, consistent with the diagnosis of ALS.,（3）In 2011, a genetic abnormality known as a hexanucleotide repeat was found in a region called C9orf72, which is associated with ALS combined with frontotemporal dementia ALS-FTD,and accounts for some 6% of cases of ALS among white Europeans.The gene is also found in people of Filipino descent,2011年,一个基因异常称为hexanucleotide重复被发现在一个叫做C9orf72区域,这是与ALS与额颞痴呆ALS-FTD相结合,并占一些例ALS欧洲白人的6%。的基因也在菲律宾血统的人,ALS的案例,ALS简介,ALS的治疗与预防,2,2.4 ALS的病因,（4）The UBQLN2 gene encodes production of the protein ubiquilin 2 in the cell, which is a member of the ubiquilin family and controls the degradation of ubiquitinated proteins. Mutations in UBQLN2 interfere with protein degradation, leading to neurodegeneration and causing dominantly inherited, chromosome X-linked ALS and ALS/dementia。,An MRI with increased signal in the posterior part of the internal capsule which can be tracked to the motor cortex consistent with the diagnosis of ALS. Classification and external resources,UBQLN2基因编码蛋白的生产ubiquilin 2细胞中,这是一个ubiquilin家族的成员和控制ubiquitinated蛋白质的降解。突变UBQLN2干扰蛋白质降解,导致神经细胞退化和导致继承居多,染色体x ALS和ALS /痴呆。,ALS的案例,ALS的简介,ALS的治疗与预防,3,ALS的发病人群,从遗传角度来看，通常有10%-20%的ALS患者是家族性的，有80%-90%是散发性的。有明确的家族史的就是家族性的ALS；家族史不明确的可看做是散发性的，但是通过基因检测，这其中还是会有近11%最终查出是家族遗传性的ALS。,From the genetic perspective, there are usually 10% to 20% of patients with ALS is familial, 80% to 90% is sporadic. There is a clear family history is familial ALS. Unclear family history can be seen as a sporadic, but through genetic testing, which accounts for nearly 11% will eventually find out is familial transmissibility of ALS.,ALS的案例,ALS的简介,ALS的治疗与预防,1,The case of ALS,Stephen William hawking, on January 8, 1942 -), the famous British physicist, is known as one of the most outstanding theoretical physicist since Einstein. He proposed that the universe since the big bang singularity, time to start from now and black holes eventually evaporate, in unified the two basic theories of 20 th-century physics, Einsteins theory of relativity and quantum theory of the Max Planck out important one step. With amyotrophic amyotrophic lateral sclerosis, he almost completely paralyzed, not pronunciation, but still in 1988 published “a brief history of time, has sold more than 10 million copies, one of the popular science books to become the worlds best selling. The university of Cambridge on April 20, 2009, the famous physicist Stephen Hawking was very ill. The 67 - year - old hawking has respiratory system infection for weeks, and was sent to a local hospital.,Stephen William hawking,4,ALS的案例,ALS的简介,ALS的治疗与预防,2,The case of ALS,Wang Jia, male, Korea. Alive after he was a big boy, in 2008, all Wang Jia found the body, until only the eyes and the right hand fingers