| Term | Definition |
|---|---|
| Amyloid precursor protein | APP; protein from which beta-amyloid (the main component of neuritic plaques in Alzheimer’s disease) is derived by proteolysis |
| Ascites | Abnormal accumulation of serous fluid between tissues and organs |
| Ataxia | Inability to coordinate voluntary muscular movements |
| Atonia | Lack of physiological (muscular) tone |
| Autophagy | Digestion of cellular constituents by enzymes of the same cell |
| Cataplexy | Sudden loss of muscle control/tone while conscious, following emotional stimulus |
| Dysarthria | Difficulty in articulating words |
| Dysphagia | Difficulty in swallowing |
| Dystonia | Abnormal tonicity of muscle with involuntary sustained muscle contractions |
| Ectopic dendritogenesis | Formation/outgrowth of new, malformed (ectopic) dendrites from neurones |
| Endoplasmic reticulum | Membranous/vesicular network involved in intracellular transport of materials |
| Filipin | Antifungal agent used in fluorescent diagnostic staining of cultured NPC fibroblasts |
| Foam cell | A swollen reticuloendothelial cell filled with lipid-laden vacuoles |
| Gelastic [cataplexy] | Cataplexy associated with mirthless laughter due to strong emotional stimulus |
| Glycoprotein | Conjugated protein in which the non-protein group is a carbohydrate |
| Glycosphingolipid | Carbohydrate-attached lipids (glycolipids) containing sphingosine |
| Hypocretins (orexins) | Excitatory neuropeptide hormones involved in sleep regulation |
| Hypotonia | A state involving general or localised low muscle tone |
| Lipoprotein | Conjugated protein with lipid portion; transports ingested lipids from food |
| Lysosome | Sac-like intracellular organelle that contains various hydrolytic enzymes |
| Meganeurite | Swollen, distended portion of a neurone occurring in neuropathological conditions |
| Miglustat | NB-DNJ, N-butyldeoxynojirimycin, OGT918; a small iminosugar molecule that inhibits glycosphingolipid synthesis |
| Neurofibrillary tangles | Pathological protein aggregates found in neurones in neurological disease |
| NPC (or NPA or NPB) | Niemann–Pick disease type C (or A or B) |
| NPC1 and NPC2 | Genes in which mutations give rise to NPC |
| Sphingomyelinases | Group of enzymes that catalyse the hydrolysis of sphingomyelin |
| Saccades (saccadic) | Small, rapid movements of the eye as it jumps from one fixation point to another |
© 2007 Blackwell Publishing Limited. Reproduced by permission.