Amyotrophic lateral sclerosis - Amyotrophic lateral sclerosis(ALS a fatal progressive neurodegenerative disorder is the most common motor neuron disease

Amyotrophic lateral sclerosis - Amyotrophic lateral...

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Amyotrophic lateral sclerosis (ALS), a fatal progressive neurodegenerative disorder, is the most common motor neuron disease in European populations. Approximately 10% of ALS cases are familial (FALS) and the other patients are considered as sporadic ALS (SALS). Among many ALS causing genes that have been identified, mutations in SOD1 and C9orf72 are the most common genetic causes of the disease. In Iranian patients, it has been shown that SOD1 , as compared to C9orf72 , plays a much more prominent role. To date, more than 170 mutations have been reported in SOD1 . Genotype/phenotype correlation with respect to either different causative genes or different mutations of a specific gene has not been well established. The inheritance of FALS in many families is atypical with one proband and one or two first/second degree relatives who also have the disease (Valdmanis & Rouleau 2008). The first big breakthrough in the genetics of FALS came in 1993 with the discovery of pathological mutations in the Cu-Zn superoxide dismutase (SOD1) gene in ALS patients (Rosen et al 1993).
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  • Summer '15
  • Genetics, Sex linkage, Autosomal dominant traits, recessive traits

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