渐冻人ppt

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。
The onset of the crown of als
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ALS的简介
ALS的案例
ALS的治疗与预防
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2.2、2.3 ALS的病因
（2）About 5–10% of cases are directly inherited from a person‘s parents.Overall, firstdegree relatives of an individual with ALS have a 1% risk of developing ALS.
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
ALS的治疗与预防
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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。
Causes of ALS 4
ALS的简介
Stephen William hawking
ALS的案例
ALS的治疗与预防
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The caΒιβλιοθήκη e of ALS 1Stephen 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, Einstein's theory of relativity and quantum theory of the Max Planck out important one step.
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ALSFTD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
Causes of ALS 2、3
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ALS简介
2.4 ALS的病因
ALS的案例
（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。
（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 ALSFTD,and accounts for some 6% of cases of ALS among white Europeans.The gene is also found in people of Filipino descent
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 world's 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.
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ALS的简介
ALS的案例
ALS的治疗与预防
The case of ALS 2
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 move, finally he got a rare disease diagnosis, "frozen". Later, he with the help of relatives and friends insist on creation, more than 60 kinds of graphic design, also non-stop blog, inspiring myself, also in moved online.
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。[3]ALS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。
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
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。[32][33][34]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。
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.
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ALS简介
2.1 ALS的病因
ALS的案例
ALS的治疗与预防
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（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.[32][33][34] This
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ALS的简介
ALS的案例
ALS的发病人群
ALS的治疗与预防
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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.