amyotrophic lateral sclerosis-frontotemporal dementia (ALS-FTD)

^[1]^[2]

Pathology

pathological phosphorylation of MAPT at residue Thr175 which in vitro is associated with activation of pTyr216 GSK-3beta, phosphorylation of MAPT Thr231 & formation of cytoplasmic inclusions & cell death^[1]

↑ ^1.0 ^1.1 Moszczynski AJ, Hintermayer MA, Strong MJ. Phosphorylation of Threonine 175 Tau in the Induction of Tau Pathology in Amyotrophic Lateral Sclerosis-Frontotemporal Spectrum Disorder (ALS-FTSD). A Review. Front Neurosci. 2018 Apr 20;12:259. PMID: https://pubmed.ncbi.nlm.nih.gov/29731706 PMCID: PMC5919950 Free PMC article. Review.
↑ DeJesus-Hernandez M et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 2011 Oct 20; 72:245. PMID: https://pubmed.ncbi.nlm.nih.gov/21944778
Renton AE et al A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron. 2011 Oct 20;72(2):257-68. Epub 2011 Sep 21. PMID: https://pubmed.ncbi.nlm.nih.gov/21944779