Amyotrophic Lateral Sclerosis Genetic Studies
نویسندگان
چکیده
منابع مشابه
Epidemiologic Studies of Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disorder characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. The causes of ALS remain largely unknown more than 140 years after the disease was first described. The overall aims of this thesis were to describe t...
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We performed a genome-wide association study in sporadic ALS (2,323 patients and 9,013 controls) and evaluated all SNPs with P < 1.0 x 10-4 in a second, independent cohort of 2,532 patients and 5,940 controls. Analysis of the genome-wide data revealed genome-wide signifi cance for one SNP, rs12608932 with P = 1.30 x 10-9. This SNP demonstrated robust replication in the second cohort (P = 1.86 x...
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Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by the selective death of motor neurons in the motor cortex, brainstem, and spinal cord. A large number of rodent models are available that show motor neuron death and a progressive motor phenotype that is more or less reminiscent of what occurs in patients. These rodent models contain genes with spontaneous or in...
متن کاملAmyotrophic Lateral Sclerosis
Touch MEdical MEdia 53 Fasciculation, which is observed in various peripheral motor neuron disorders, is most frequently found in nonprogressive benign fasciculation syndrome (BFS). Patients with BFS never exhibit muscle atrophy or pathologic weakness and not all such patients visit hospitals; therefore, the prevalence and characteristics of BFS still need to be established. However, among the ...
متن کامل[Amyotrophic lateral sclerosis].
Amyotrophic lateral sclerosis (ALS) is a progressive, degenerative disease of the motor system characterized by signs and symptoms of upper and lower motor dysfunction. This results in the presence of focal amyotrophies and pareses affecting voluntary muscles. Patients die after a few years, in most cases by respiratory failure. ALS is the most frequent motor neuron disease; however, its etiolo...
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ژورنال
عنوان ژورنال: The Neuroscientist
سال: 2014
ISSN: 1073-8584,1089-4098
DOI: 10.1177/1073858414555404