F Squitieri

TL;DR: Studying neurological phenotype at diagnosis, and long-term effect of vitamin E supplementation in 16 patients from 12 Italian families found that Vitamin E supplementation therapy allowed a stabilization of the neurological conditions in most of the patients, however, development of spasticity and retinitis pigmentosa was noted in a few patients during therapy.

TL;DR: The cholesterol precursors lanosterol and lathosterol, the levels of the bile acid precursor 27-hydroxycholesterol, and of the brain specific 24OHC were all significantly reduced in manifest HD patients, suggesting that whole-body and brain cholesterol homeostasis are both impaired in HD.

TL;DR: The data argue in favor of a greater similarity across the same generation than across successive generations, and an excess of parents with later than expected age of onset was observed, paralleled by a CAG-independent anticipation of onset in parent-child transmissions.

TL;DR: Pre-onset studies are of crucial importance in understanding the temporal sequence of the clinical events and are also very important for future therapeutic strategies in those diseases initiating late in the life, such as HD.

TL;DR: MRI is used to examine iron content in premanifest gene carriers and in early HD patients compared with healthy controls, which provides an indirect measure of ferritin/iron deposition in the brain.