Shamiram Melhem

7 T MRI: Changes in cortical iron are visible on ex vivo 7 T MRI Finally, we compared histological changes in cortical iron with ex vivo ultrahigh field MRI images of adjacent tissue blocks in four FTLD-MAPT and two FTLD-C9orf72 cases (Figure 7). On histology, two out of these four FTLD-MAPT cases had no iron accumulation in neither frontal nor temporal cortex.

Abstract Objective Despite the strong genetic component of frontotemporal dementia (FTD), a substantial proportion of patients remain genetically unresolved. We performed an in-depth study of a family with an autosomal dominant form of FTD to investigate the underlying genetic cause. Methods Following clinical and pathologic characterization of the family, genetic studies included haplotype sharing analysis and exome sequencing.

Clinical and pathologic phenotype of a large family with heterozygous STUB1 mutation Merel O. Mol, Jeroen G.J. van Rooij, Esther Brusse, Annemieke J.M.H. Verkerk, Shamiram Melhem, Wilfred F.A. den Dunnen, Patrizia Rizzu, Chiara Cupidi, John C. van Swieten, Laura Donker Kaat Neurol Genet Jun 2020, 6 (3) e417; DOI: 10.1212/NXG.0000000000000417