Selective neuronal vulnerability is common to most degenerative disorders, including
Niemann-Pick C (NPC), a rare genetic disease with altered intracellular trafficking of …

Mucopolysaccharidosis IIIB (MPS IIIB) is an inherited metabolic disease due to deficiency of
α-N-Acetylglucosaminidase (NAGLU) enzyme with subsequent storage of undegraded …

We report a 67-year-old woman with a 5-year history of progressive walking and balance
difficulties with near-fall episodes. Gradually she also developed fine motor and speech …

Parkinsonism in liver diseases or dysfunction, mainly including neurological manifestations
in hereditary liver diseases and neurological complications of advanced liver diseases …

The Niemann-Pick type C1 (NPC1) is a rare genetic disease characterized by the
accumulation of endocytosed cholesterol and other lipids in the endosome/lysosome …

Abstract Background Niemann-Pick type C (NPC) is an autosomal recessive progressive
neurodegenerative disorder caused by mutations in the NPC1 or NPC2 genes. Patients with …

Niemann-Pick disease is an autosomal recessive lipid storage disease, characterized with
differentiating levels of hepatosplenomegaly and progressive psychomotor retardation …

At the end of February and the beginning of March, two main important manifestations occur:
a) The Rare Disease Day, taking place on the last day of February each year. The main …