Date of Award
Master of Science
Dr. Michael J. Strong
Amyotrophic lateral sclerosis [ALS] is a neurological disease characterized by the selective loss of motor neurons [MNs] and death due to respiratory failure usually occurs within 3-5 years of symptom onset. Mutations in the genes encoding TAR DNA binding protein of 43 kDa [TDP-43], fused in sarcoma/translocated in liposarcoma [FUS/TLS] and Cu/Zn superoxide dismutase [SOD1] have all been associated with ALS. Never before has a link been made between the variant of ALS and intraneuronal pathology. This thesis has sought to (1) analyze the immunohistochemical expression of TDP-43, FUS/TLS, SOD1, Rho Guanine nucleotide exchange factor [RGNEF], and 5 other ALS-associated proteins across multiple variants of ALS, and (2) characterize the immunohistochemical expression of RGNEF for the first time. Here, I show that mutant SOD1-ALS is a pathologically unique variant of ALS. This finding may be used in the identification of novel families that may be at risk for developing ALS.
Keller, Brian Andrew, "Evidence for the unique pathological classification of mutant S0D1-ALS" (2011). Digitized Theses. 3351.