Pathophysiology of Amyotrophic Lateral Sclerosis

摘要: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder character‐ ized by death of pyramidal neurons in the motor cortex (upper neurons) and brain stem central spinal cord (lower neurons). This results muscle weakness, disability, finally respiratory failure or an associated infection (Shook Pioro, 2009). There are two types ALS familiar (fALS) sporadic (sALS). They both clinically undistiguishale one from other; fALS accounts for 10% all cases being rest sALS (Pasinelli Brown, 2006). In last few years, there had been explosion genetic studies associating with several mutations genes codifying different proteins: Cu/Zn superoxide dismutase, (SOD1), transactive response binding protein 43 (TARDBP), fused sarcoma (FUS), valosin containing (VCP). Most recently, defect was identi‐ fied expansion noncoding GGGGCC hexanucleotide repeat chromo‐ some 9, open reading frame 72 (C9ORF72), without frontotemporal dementia (Boeve et al., 2012).