Biomaterial Database

[Niemann-Pick disease type C]. 1995

S Akaboshi, and K Ohno

Division of Child Neurology, Faculty of Medicine, Tottori University.

Niemann-Pick disease type C (NPC) is an autosomal recessive neurovisceral lipid storage disorder, but the basic defect has not yet been clarified. Diagnostic biochemical makers are intracellular accumulation of free cholesterol or the decreased esterification of exogenous cholesterol. The differences in the severity of defective esterification are related to the onset of the disease. Genetically, an abnormal gene is located on the human chromosome 18. Biochemically, many drugs, i.e. imipraine, progesterone and bafilomycin A1 are known to interfere with cholesterol esterification. Clinically, vertical supranuclear gaze palsy and cataplexy are specific symptoms. The filipin stain of the foamy cell in bone marrow is available for rapid diagnosis. Many therapies, i.e. dimethyl sulfoxide, low-cholesterol diet and transplantations, have been challenged but improvement of neurological symptoms have not been reported.

UI	MeSH Term	Description	Entries
D009542	Niemann-Pick Diseases	A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. They can be caused by deficiencies of enzyme activities (SPHINGOMYELIN PHOSPHODIESTERASE) or defects in intracellular transport, resulting in the accumulation of SPHINGOMYELINS and CHOLESTEROL. There are various subtypes based on their clinical and genetic differences.	ASM Deficiency,ASM-Deficient Niemann-Pick Disease,Acid Sphingomyelinase Deficiency,Acid Sphingomyelinase-deficient Niemann-Pick Disease,Niemann-Pick Disease,ASM Deficiencies,ASM Deficient Niemann Pick Disease,ASM-Deficient Niemann-Pick Diseases,Acid Sphingomyelinase deficient Niemann Pick Disease,Deficiencies, ASM,Deficiencies, Acid Sphingomyelinase,Deficiency, ASM,Deficiency, Acid Sphingomyelinase,Disease, ASM-Deficient Niemann-Pick,Diseases, ASM-Deficient Niemann-Pick,Niemann Pick Disease,Niemann Pick Diseases,Niemann-Pick Disease, ASM-Deficient,Niemann-Pick Diseases, ASM-Deficient,Sphingomyelinase Deficiencies, Acid,Sphingomyelinase Deficiency, Acid
D002385	Cataplexy	A condition characterized by transient weakness or paralysis of somatic musculature triggered by an emotional stimulus or physical exertion. Cataplexy is frequently associated with NARCOLEPSY. During a cataplectic attack, there is a marked reduction in muscle tone similar to the normal physiologic hypotonia that accompanies rapid eye movement sleep (SLEEP, REM). (From Adams et al., Principles of Neurology, 6th ed, p396)	Henneberg Syndrome,Status Cataplexicus,Tonelessness Syndrome,Cataleptic Attacks,Attack, Cataleptic,Attacks, Cataleptic,Cataleptic Attack,Syndrome, Henneberg,Syndrome, Tonelessness,Syndromes, Tonelessness,Tonelessness Syndromes
D002784	Cholesterol	The principal sterol of all higher animals, distributed in body tissues, especially the brain and spinal cord, and in animal fats and oils.	Epicholesterol
D002887	Chromosomes, Human, Pair 18	A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.	Chromosome 18
D004951	Esterification	The process of converting an acid into an alkyl or aryl derivative. Most frequently the process consists of the reaction of an acid with an alcohol in the presence of a trace of mineral acid as catalyst or the reaction of an acyl chloride with an alcohol. Esterification can also be accomplished by enzymatic processes.	Esterifications
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000818	Animals	Unicellular or multicellular, heterotrophic organisms, that have sensation and the power of voluntary movement. Under the older five kingdom paradigm, Animalia was one of the kingdoms. Under the modern three domain model, Animalia represents one of the many groups in the domain EUKARYOTA.	Animal,Metazoa,Animalia
D013494	Supranuclear Palsy, Progressive	A degenerative disease of the central nervous system characterized by balance difficulties; OCULAR MOTILITY DISORDERS (supranuclear ophthalmoplegia); DYSARTHRIA; swallowing difficulties; and axial DYSTONIA. Onset is usually in the fifth decade and disease progression occurs over several years. Pathologic findings include neurofibrillary degeneration and neuronal loss in the dorsal MESENCEPHALON; SUBTHALAMIC NUCLEUS; RED NUCLEUS; pallidum; dentate nucleus; and vestibular nuclei. (From Adams et al., Principles of Neurology, 6th ed, pp1076-7)	Ophthalmoplegia, Progressive Supranuclear,Progressive Supranuclear Ophthalmoplegia,Progressive Supranuclear Palsy 1,Steele-Richardson-Olszewski Syndrome,Palsy, Progressive Supranuclear,Progressive Supranuclear Palsy,Richardson's Syndrome,Steele-Richardson-Olszewski Disease,Supranuclear Palsy, Progressive, 1,Progressive Supranuclear Palsies,Richardson Syndrome,Steele Richardson Olszewski Disease,Steele Richardson Olszewski Syndrome,Supranuclear Ophthalmoplegia, Progressive,Supranuclear Palsies, Progressive