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  • Title: Emerging understanding of the genotype-phenotype relationship in amyotrophic lateral sclerosis.
    Author: Goutman SA, Chen KS, Paez-Colasante X, Feldman EL.
    Journal: Handb Clin Neurol; 2018; 148():603-623. PubMed ID: 29478603.
    Abstract:
    Amyotrophic lateral sclerosis (ALS) is a progressive, noncurable neurodegenerative disorder of the upper and lower motor neurons causing weakness and death within a few years of symptom onset. About 10% of patients with ALS have a family history of the disease; however, ALS-associated genetic mutations are also found in sporadic cases. There are over 100 ALS-associated mutations, and importantly, several genetic mutations, including C9ORF72, SOD1, and TARDBP, have led to mechanistic insight into this complex disease. In the clinical realm, knowledge of ALS genetics can also help explain phenotypic heterogeneity, aid in genetic counseling, and in the future may help direct treatment efforts.
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