Niemann-Pick disease (NPD) is a rare lysosomal storage disease (LSD) with multisystemic
involvement. The disease is heterogeneous and classified into three subtypes: type A and B …

Niemann-Pick type C (NPC) disease, sometimes called childhood Alzheimer's, is a rare
neurovisceral lipid storage disease with progressive neurodegeneration leading to …

Abstract Background Niemann-Pick type C disease (NPC) is an autosomal recessive,
neurovisceral, lysosomal storage disorder with protean and progressive clinical …

There is a group of less‐common movement disorders in which a clear cognitive phenotype
coexists alongside the motor abnormality, and the recognition of this co‐occurrence is …

Niemann-Pick type C disease (NPC) is a fatal autosomal recessive disorder characterized
by a defect in the intracellular transport of lipoproteins leading to the accumulation of lipids …

Niemann-Pick Type C1 (NPC1, MIM 257220) is a rare, progressive, lethal, inherited
autosomal-recessive endolysosomal storage disease caused by mutations in the NPC1 …

Aim Cognitive impairments have been established as part of the non‐motor phenomenology
of adult dystonia. In childhood dystonia, the extent of cognitive impairments is less clear …

Aim The study aims to describe cerebral MRI in different onset forms of Niemann-Pick type C
(NPC). Systematic MRI analyses in this rare lysosomal storage disease are lacking in the …

Metabolic disorders, whether hereditary or acquired, affect the brain, and abnormalities of
the brain are related to cellular integrity; particularly in regard to neurons and astrocytes as …

Abstract Background Niemann-Pick disease type C (NP-C) is an inherited
neurodegenerative disease (1 per 100 000 newborns) caused by NPC proteins impairment …