Niemannpick type c npc disease is an autosomal recessive neurodegenerative disorder which is. Niemann pick disease type b is an inherited condition involving lipid metabolism. Apr 17, 2014 niemann pick disease is an inherited condition involving lipid metabolism, which is the breakdown, transport, and use of fats and cholesterol in the body. Niemannpick disease, type c definition of niemannpick. In niemannpick disease type c npc, a genetic heterogeneity with two complementation groupsnpc1, comprising. Niemannpick disease type a genetic and rare diseases. Niemannpick disease type b genetic and rare diseases. Niemannpick disease type c npc is an autosomal recessive lipidosis with protean clinical. Harmful quantities of lipids accumulate in the spleen, liver, lungs, bone marrow, and, in some patients, the brain. Niemann pick disease type c npc is a fatal neurovisceral lipid storage disease of autosomal inheritance resulting from mutations in either the npc1 95% of families or npc2 gene. He1 was recently identified as the gene underlying the very rare npc2. Niemannpick disease type c npc is a fatal neurovisceral lipid storage. A study using somatic cell hybridization and linkage analysis m.
Marc patterson a pediatric neurologist at mayo clinic discusses niemannpick disease type c. In people with this condition, abnormal lipid metabolism causes harmful amounts of lipids to accumulate in the spleen, liver, lungs, bone marrow, and brain. Niemannpick disease type c study featured news rush. Niemann pick type c npc disease is associated with accumulation of cholesterol and other lipids in late endosomeslysosomes in virtually every organ. Niemannpick disease type c also known as npc is a fatal, neurodegenerative disease that affects 1 in 120,000 however these numbers are growing. Harmful quantities of lipids accumulate in the spleen, liver. Mutations in the npc1 gene have now been well characterized. Sonographic evaluation of niemannpick disease type c. Niemannpick disease type c npc, mim 257220 is a neurovisceral lysosomal lipid storage disorder of autosomal recessive inheritance characterized at the cellular level by accumulation of unesterified cholesterol and glycolipids in the endosomallysosomal system patterson et al. Metton eps erasme, 143, avenue armandguillebaud, bp 50085, 92161 antony cedex, france rec. Niemannpick type c npc is a lysosomal storage disease associated with mutations in npc1 and npc2 genes. Jun 03, 2010 niemann pick diseases thus oppose two clearly distinct groups. Which of the following regarding various types of niemannpick disease is incorrect. The niemann pick diseases page provides a brief description of the genetics and clinical features of these related lysosomal storage diseases that is due to defects in either sphingomyelinase asm gene types a and b or the npc1 gene type c.
The metabolic and molecular bases of inherited disease. Niemannpick disease type c definition of niemannpick. The niemannpick type c1 npc1 gene is responsible for most 95% cases of npc disease1 npc1 is located on chromosome 18 at cytogenetic band 18q11122,3 npc2 is mapped at chromosome. Type a and b are both caused by biallelic mutations in smpd1 gene. Niemannpick disease, type c synonyms, niemannpick disease, type c pronunciation, niemannpick disease, type c translation. The adult form of niemannpick disease type c oxford academic. The niemannpick diseases page provides a brief description of the genetics and clinical features of these related lysosomal storage diseases that is due to defects in either sphingomyelinase asm. The authors report electron microscopic findings in brain, bone marrow and liver biopsies in a case of juvenile niemannpick disease crockers type c. Np disease encompasses a set of autosomal recessive hereditary abnormalities 1 characterized by the accumulation of lipids, ce sphingomyelin and cholesterol, in different organs such as.
Niemannpick disease type c npc is a fatal neurovisceral lipid storage disease of autosomal inheritance resulting from mutations in either the npc1 95% of families or npc2 gene. Here we report the first comprehensive study of eight unrelated families with npc2. Niemannpick type c disease npc is a rare hereditary disease, which psychia trists do not face often in france. Niemannpick disease, type c niemannpicks sjukdom, typ c svensk definition. Niemannpick disease is one of a group of lysosomal storage diseases that affect metabolism and those are caused by genetic mutations. It affects people of all ages from newborns to adults. Niemannpick type c npc disease is an autosomal recessive neurodegenerative disorder which is caused in 95% by a mutation in the npc1 gene on chromosome 18 or by npc2 mutation, encoding for 2 different lysosomal lipid transport proteins. Niemannpick diseases thus oppose two clearly distinct groups. Niemann pick disease type c also known as npc is a fatal, neurodegenerative disease that affects 1 in 120,000 however these numbers are growing. This leads to the abnormal accumulation of these substances within various tissues of the body, including brain tissue. Kanoun n, trabelsi m, oueslati a, damergi r, ben dridi mf, boudhina r, bennaceur b.
The diagnosis was supported by clinical data increase of blood sphingomyelin and vacuolated histiocytes in bone marrow and liver. However, type c can appear anytime in a persons life, from birth to adulthood. Pulmonary infiltration in niemannpick disease type c. The most commonly recognized forms are niemannpick types a. Niemannpick disease type c is sometimes referred to as childhood alzheimers, because it often is diagnosed in. Pentchev pg, vanier mt, suzuki k, patterson mc 1995 niemannpick disease type c. Spectrum of phenotypic variability in niemannpick type c. Niemannpick disease type c npc is an autosomal, recessive lipid storage disease that can present in infants, children, and adults. Study seeks lifesaving therapy for rare pediatric disease. The full text of this article is available in pdf format. Niemannpick disease is an inherited condition involving lipid metabolism, which is the breakdown, transport, and use of fats and cholesterol in the body. Niemann pick disease type c nord national organization for. Niemannpick disease type b is an inherited condition involving lipid metabolism.
Niemann pick disease type c npc is an autosomal, recessive lipid storage disease that can present in infants, children, and adults. Niemannpick disease metabolism a rapidly progressive ar storage disease with progressive neurologic damage due to sphingomyelinase deficiency. Symptoms of the type c form of niemannpick disease usually begin to appear in children around 5 years old. Carstea3 department of biochemistry, insermcnrs 189, lyonsud school of medicine, oullins, france. Kruth hs, comly me, butler jd, vanier mt, fink jk, wenger da, patel s, pentchev pg. Partly conceived as a single arm, noncontrolled, multicentre, open label clinical trial and partly as an observational study. Cholesterol in niemannpick type c disease springerlink. The niemannpick type c1 npc1 gene is responsible for most 95% cases of npc disease1 npc1 is located on chromosome 18 at cytogenetic band 18q11122,3 npc2 is mapped at chromosome 14q24.
Approximately 50% of cases present before 10 years of age, but manifestations may first be recognized as late as the sixth decade. Type d as a distinct entity is no longer justified. Marc patterson a pediatric neurologist at mayo clinic discusses niemann pick disease type c. Niemann pick disease type c npc is a rare progressive genetic disorder characterized by an inability of the body to transport cholesterol and other fatty substances lipids inside of cells. The authors report electron microscopic findings in brain, bone marrow and liver biopsies in a case of juvenile niemann pick disease crockers type c. Niemannpick type c npc disease is associated with accumulation of cholesterol and other lipids in late endosomeslysosomes in virtually every organ. Niemann pick disease metabolism a rapidly progressive ar storage disease with progressive neurologic damage due to sphingomyelinase deficiency. Radiological findings in niemannpick disease radiology. Npd type a is ar, more common in ashkenazi jews and. Npd type a is ar, more common in ashkenazi jews and is characterized by accumulation of excess sphingomyelin and cholesterol in the brain, bm, liver, spleen clinical early infancy onset with feeding problems and delayed or regressing motor development.
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