https://t.co/DEOGq5xY5a "We conclude that both C9orf72 and GRN mutations are associated with disrupted lysosomal homeostasis and white matter lipid loss, but GRN mutations cause a more pronounced disruption to myelin lipid metabolism."
https://t.co/DEOGq5xY5a "Both FTD-GRN and FTD-C9orf72 cases showed significantly increased lysosomal and phagocytic protein markers, however galactocerebrosidase activity, required for lysosomal catabolism of galactosylceramide and sulfatide, was selective
https://t.co/DEOGq5xY5a "and marked accumulation of cholesterol esters in both frontal and parietal white matter, indicative of myelin break-down."
https://t.co/DEOGq5xY5a "A less-pronounced, yet statistically significant, loss of sphingolipids was also observed in FTD-C9orf72. FTD-GRN was distinguished from FTD-C9orf72 and control cases by increased acylcarnitines in frontal grey matter"