Hereditary leukodystrophy with spheroids (HLDS) and Nasu-Hakola disease (NHD): Reports of seven Italian cases to highlight key diagnostic features

Abstract

HLDS, an autosomal-dominant CSF1R-related leukoencephalopathy, and NHD, an autosomal-recessive TREM2- or TYROBP-related leukoencephalopathy, are ultra-rare adult-onset inherited microgliopathies. Based on their pathophysiology, hematopoietic stem cell transplantation (HSCT) might be a realistic therapy if performed at early stage. Aim of our work was to highlight diagnostic hints to promote prompt identification of affected subjects by reporting our experience.