The hyperphosphorylation and proteolytic modification of the TAR DNA binding protein-43 (TDP-43) is a key finding in a number of neurodegenerative diseases including frontotemporal dementia with ubiquitin-positive inclusions (FTLD-U), amyotrophic lateral sclerosis (ALS), and most recently Alzheimer's disease (AD). To examine whether proteolytic modifications of TDP-43 is a relevant finding in P...

The neurodegenerative disease Niemann-Pick Type C2 (NPC2) results from mutations in the NPC2 (HE1) gene that cause abnormally high cholesterol accumulation in cells. We find that purified NPC2, a secreted soluble protein, binds cholesterol specifically with a much higher affinity (K(d) = 30-50 nM) than previously reported. Genetic and biochemical studies identified single amino acid changes tha...

Rare disease represents one of the most significant issues facing the medical community and health care providers worldwide, yet the majority of these disorders never emerge from their obscurity, drawing little attention from the medical community or the pharmaceutical industry. The challenge therefore is how best to mobilize rare disease stakeholders to enhance basic, translational and clinica...

BACKGROUND Niemann-Pick disease and β-thalassemia are distinct conditions with specific clinical and morphological manifestations. β-thalassemia is the most common inherited blood disorder in Iran whereas Niemann-Pick disease, a lysosomal storage disorder, is rarely found in this country. CASE PRESENTATION This 5-month old girl, a known case of β-thalassemia major was hospitalized for failure...

Histochemical analysis of frontal and temporal lobes from four patients with Pick presenile dementia indicated intracellular and extracellular deposits of gangliosides. Thin layer chromatography of gangliosides disclosed the presence of an unknown ganglioside, a decrease of N-acetylgalactosamine-GDla and an increase of GTla and/or GD2 in white matter of Pick brain. Chromatography of gray matter...

319 Olfaction in Parkin heterozygotes and compound heterozygotes: The CORE-PD study R.N. Alcalay, A. Siderowf, R. Ottman, E. Caccappolo, H. Mejia-Santana, M.-X. Tang, L. Rosado, E. Louis, D. Ruiz, C. Waters, S. Fahn, L. Cote, S. Frucht, B. Ford, M. Orbe-Reilly, B. Ross, M. Verbitsky, S. Kisselev, C. Comella, A. Colcher, D. Jennings, M. Nance, S. Bressman, W.K. Scott, C. Tanner, S. Mickel, M. Re...