A new form of niemannpick disease characterised by. Niemannpick disease type c1 is a fatal genetic disease characterized by a failure to metabolize and dispose of cholesterol and lipids, causing progressively impaired movement and intellectual function. Case report 2 an afghan girl was growing normally till 1 year of age. Pdf parkinsonism syndrome in heterozygotes for niemann pick c1. 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. This site is an educational service of the national niemannpick disease foundation and. Niemann pick type c disease is an autosomal recessive neurovisceral lipid storage disorder which leads to systemic and neurological abnormalities including ataxia, seizures, and loss of speech. Niemann pick disease npd, also called sphingomyelincholesterol lipidosis, is a group of autosomal recessive disorders associated with splenomegaly, variable neurologic deficits, and the storage of lipids including sphingomyelin and cholesterol. No specific treatment is known for type a, but symptoms are treated. Niemannpick disease is divided into four main types. In 1914 albert niemann, a german pediatrician who primarily studied infant metabolism, published a description of an ashkenazi jewish infant with jaundice, nervous system and brain impairments, swollen lymph nodes lymphadenopathy, and an enlarged liver and spleen hepatosplenomegaly.
Niemannpick disease np information cleveland clinic. Bird 3,4 1 department of psychiatry, university of regensburg. The clinical course in type a niemannpick disease is similar. Niemann pick disease metabolism a rapidly progressive ar storage disease with progressive neurologic damage due to sphingomyelinase deficiency. The international niemann pick disease registry inpdr is a diseasespecific patient registry. Niemann pick type c npc is markedly different from the other types of the disease. Niemannpick diseases are a subgroup of lipid storage disorders called sphingolipidoses in. Niemann pick disease market global industry analysis and. Approximately 1 in 90 persons of ashkenazi jewish descent are carriers for niemannpick disease.
Consensus clinical management guidelines for niemannpick. Pdf niemann pick disease a case report researchgate. In people with this condition, abnormal lipid metabolism causes harmful amounts of lipids to accumulate in the spleen, liver, lungs, bone marrow, and brain. Expected diseases according to above information 1 gaucher disease 2 tay sachs disease 3 hurlers syndrome 4niemannpick disease further enzymatic and gene studies revealed the presence of niemannpick type a disease. Niemannpick disease np refers to a group of inherited metabolic disorders known as lipid storage diseases.
Niemannpick disease type c is an autosomal recessive disorder vanier and millat, 2003. At npuk we are dedicated to supporting the individuals and families affected by these conditions. Niemannpick disease npd, also called sphingomyelincholesterol lipidosis, is a group of autosomal recessive disorders associated with splenomegaly, variable neurologic deficits, and the storage of lipids including sphingomyelin and cholesterol. Niemannpick disease npd is a group of diseases passed down through families inherited in which fatty substances called lipids collect in the cells of the spleen, liver, and brain. This term now encompasses the historical niemannpick disease type d referring to the nova scotia isolate, later shown to be a genetic npc1 variant. Niemannpick disease leads to the irregular and harmful accumulation of fatty substances within various tissues of the body, including liver, spleen, and brain tissue. Niemannpick disease is an inherited condition involving lipid metabolism, which is the breakdown, transport, and use of fats and cholesterol in the body. All types of niemannpick disease are autosomal recessive, which means that children with the disease have two copies of the abnormal gene.
This site is an educational service of the national niemann pick disease foundation and is not meant to provide diagnostic or treatment advice. We report here the unique occurence of three adult heterozygous carriers of mutations in the npc1 gene who also have a parkinsonism syndrome. The national niemann pick disease foundation nnpdf does not engage in the practice of medicine. Niemannpick disease information page national institute. Cyclodextrin for niemannpick type c1 disease national. It is named for german pediatricians albert niemann 18801921 and ludwig pick 18981935. The three most commonly recognized forms are niemannpick types a and b asmd or acid sphingomyelinase deficiency and niemannpick disease type c npc. At least 5 forms of niemannpick disease have been distinguished. Genes for niemannpick type c disease office of technology.
The niemannpick disease group uk was formed in 1991, as the niemann pick support group with assistance from contact a family and the research trust for metabolic disease in children now climb. At present there are only trials investigating the treatment of np disease type c. Niemannpick disease types a and b is caused by mutations in the smpd1 gene. Parkinsonism syndrome in heterozygotes for niemann pick c1 hans h. It has a wide range of symptoms that vary in severity. Conversely, the level of 50% to 60% of normal in the fibroblasts of our case 2 is higherthan one expects with type niemannpick disease.
Niemannpick disease type a genetic and rare diseases. See the fictitious family tree, on page 4 what is the history of the disease. National niemannpick disease foundation, incpromoting. Niemannpick disease type c npc is a devastating neurodegenerative disease caused by an accumulation of lipids fats in the liver, brain and spleen. Niemannpick learn more about this inherited disease that mainly affects children, causing malfunction of the nerves, brain and other organs. Niemannpick disease definition of niemannpick disease by. Dec 27, 2018 at least 5 forms of niemann pick disease have been distinguished. Niemannpick disease type c or niemann pick c disease, often abbreviated as npc or npc, is currently the generic name widely used to designate the condition, irrespective of which gene, npc1 or npc2, is mutated. Niemannpick disease npc is a rare advanced genetic cholesterol storage disorder. Niemannpick is actually a term for a group of diseases which affect the bodys chemical make up and which are caused by specific genetic faults. Jul 12, 2016 expected diseases according to above information 1 gaucher disease 2 tay sachs disease 3 hurlers syndrome 4niemannpick disease further enzymatic and gene studies revealed the presence of niemannpick type a disease. Niemannpick diseases are a subgroup of lipid storage disorders called sphingolipidoses in which harmful quantities of fatty substances, or lipids, accumulate in the spleen, liver, lungs, bone marrow, and brain. Niemannpick disease type d is an obsolete term for a condition in a group of. Lipids fatty materials such as waxes, fatty acids, oils, and cholesterol and proteins are usually broken down into smaller components to provide energy for the body.
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. This enzyme is found in lysosomes, which are compartments within cells that break down and recycle different types of molecules. Gaucher disease nord national organization for rare disorders. Niemannpick type c, npc, guidelines, diagnosis, management background niemannpick type c npc disease is a rare genetic disease whose clinical spectrum ranges from a fatal antenatal disorder to an adultonset chronic neurodegenerative disease. Furthermore, there is no uniformity among studies in treatment outcomes or in data analysis and presentation of results. Full text get a printable copy pdf file of the complete article 727k, or click on a page image below to browse page by page. Mayo clinic doctors are wellacquainted with this complicated disease and are experienced at distinguishing niemannpick from other diseases with similar symptoms. Jul 19, 2016 niemann pick disease type b is an inherited condition involving lipid metabolism. As for cholesterollowering drugs, the combination of lovastatin, cholestyramine and nicotinic acid is the most effective one for lowering cholesterolemia. This leads to the abnormal accumulation of these substances within various tissues of the body, including brain tissue. Dec 15, 20 niemann pick c npc disease is a rare autosomal recessive lipid storage disorder.
Niemannpick diseases are a group of fatal inherited metabolic diseases of. Niemannpick disease overview national niemannpick disease. Apr 09, 2018 niemann pick disease is divided into four main types according to the altered mutated gene and the signs and symptoms. He reported that these anatomical disturbances resulted in the premature. Symptoms may include lack of muscle coordination, brain degeneration, learning problems, loss of muscle tone, increased sensitivity to touch, spasticity, feeding and swallowing difficulties, slurred. It is not a medical authority nor does it claim to have medical knowledge. At least some types are characterized by foamy reticular cells containing phospholipids. Niemann pick disease type c nord national organization for. Niemannpick disease is a class of inherited lipid storage diseases. Pdf parkinsonism syndrome in heterozygotes for niemann. Niemann pick disease type c1 is a fatal genetic disease characterized by a failure to metabolize and dispose of cholesterol and lipids, causing progressively impaired movement and intellectual function. Niemannpick disease originally was defined in terms of its histology as a reticuloendotheliosis. The international niemannpick disease registry inpdr is a diseasespecific patient registry.
Niemannpick disease the embryo project encyclopedia. Niemann pick disease is divided into four main types. The disease is named for the german physicians albert niemann 18801921 and ludwig pick 18681944. People with this condition experience a build up of lipids in the spleen, liver, lungs, bone marrow, and brain. Niemann pick c disease npc is a neurovisceral atypical lysosomal lipid storage disorder with an estimated minimal incidence of 1120 000 live births. 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. At the time of the previous report,3 the patient, a 24yearold woman, was being examined because of a large spleen that had been present since child hood gauchers disease was at one time suspected. One of these groups aims is to raise awareness among doctors of a disorder most have never heard of 1, so they can diagnose it sooner and put families in touch with support groups for help.
Conversely, the level of 50% to 60% of normal in the fibroblasts of our case 2 is higherthan one expects with type niemann pick disease. It can result from a deficiency of the acid sphingomyelinase enzyme, leading to type a or b disease, or the npc1 or npc2 also called he1 proteins involved. Understanding niemannpick disease type c and its potential treatment. Niemann pick type c npc disease is an autosomal recessive lipid storage disorder characterized by progressive neurodegeneration. Natural history of type a niemann pick disease neurology. Niemann pick c npc disease is a rare autosomal recessive lipid storage disorder. Gaucher disease nord national organization for rare. Niemannpick disease type c npc 1, 4, 5 npc is a lysosomal storage disease in which impaired intracellular lipid trafficking leads to excess storage of cholesterol and glycosphingolipids in the brain and other tissues. Isabel and toni now lead the niemann pick support groups in spain fundacion niemann pick and the uk niemann pick disease group respectively. Niemann pick disease alex gavlin and brad kligman niemann pick is an autosomal recessive genetic disorder resulting in abnormal lipid metabolism. Approximately onethousand twohundred people have niemann pick disease around the world today, with most of these people experiencing npb, or an intermediate form of the disease. Parkinsonism syndrome in heterozygotes for niemann pick c1.
Read and know what niemannpick disease is as well as its causes, symptoms, diagnosis and treatment. Niemannpick disease genetic and rare diseases information. Niemannpick disease type b is an inherited condition involving lipid. The niemann pick type c1 npc1 is a rare genetic disease characterized by the accumulation of endocytosed cholesterol and other lipids in the endosomelysosome compartments. Two poorly characterized forms of niemannpick disease have also been described as types e and f. Niemannpick disease is an inherited disease that affects lipid metabolism, or the way fats, lipids, and cholesterol are stored in or removed from your body. Niemannpick disease npd is a group of inherited metabolic disorders in which harmful quantities of a fatty substance lipids accumulate in the spleen, liver, lungs, bone marrow, and brain. Sep 10, 2018 niemann pick disease npd is a lipid storage disorder that results from the deficiency of a lysosomal enzyme, acid sphingomyelinase. Niemann pick disease is a form of sphingolipidosis, a subgroup of lysosomal storage. The presentation in these patients differs from that seen in the classical juvenile form of the disease. Registered charity number england and wales 1175311. Niemannpick disease alex gavlin and brad kligman niemannpick is an autosomal recessive genetic disorder resulting in abnormal lipid metabolism.
Niemann pick disease is an inherited disease that affects lipid metabolism, or the way fats, lipids, and cholesterol are stored in or removed from your body. Niemann pick disease originally was defined in terms of its histology as a reticuloendotheliosis. The neurological involvement defines the disease severity in most patients but is typically preceded by systemic. Niemannpick disease type c npc is a hugely lifelimiting neurodegenerative disease caused by an accumulation of lipids fats in the liver, brain and spleen. Niemannpick type c npc is markedly different from the other types of the disease. It also extends support services for npd sufferers as well as their families. Winsor and welch 1978 gave a full genetic discussion of the nova scotian or type d niemannpick disease. The niemannpick type c1 npc1 is a rare genetic disease characterized by the accumulation of endocytosed cholesterol and other lipids in the endosomelysosome compartments. It strikes in early childhood and is lethal within a decade of diagnosis.
Although it is often perceived as a paediatric disorder, significant numbers of patients with niemannpick disease type c present for the first time in adult life or survive into adult life. These pages provide information about npd, its diagnosis and treatment, and the work that nnpdf is conducting to fund research and support families affected by niemannpick disease. She was being reexamined to determine whether the spleen would. To reduce the time needed for niemannpick type c npc diagnosis. Niemannpick disease types a and b integrated genetics. Progressive development of treatmentresistant symptoms. Niemann pick disease npd is a group of diseases passed down through families inherited in which fatty substances called lipids collect in the cells of the spleen, liver, and brain. Mayo clinic doctors with expertise in niemannpick work together to provide exactly the care you need. Niemann pick disease np refers to a group of inherited metabolic disorders known as lipid storage diseases. 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. The three main types of niemannpick are types a, b and c. The national niemannpick disease foundation nnpdf does not engage in the practice of medicine.
Niemannpick disease type c orphanet journal of rare. This suggests the possibility that mutations in npc1 could be a risk factor for parkinson disease similar to the phenomenon that is now recognized with gaucher disease. The the of the of patients was consistent with md, john the halo syndrome. They are known as lysosomal storage disorders and are inherited as autosomal recessive diseases. Approximately onethousand twohundred people have niemannpick disease around the world today, with most of these people experiencing npb, or an intermediate form of the disease. Niemannpick disease is one of a group of lysosomal storage diseases that affect metabolism and that are caused by genetic mutations. Diagnosis of niemannpick diseasenational niemannpick. Niemann pick disease type c npc is a hugely lifelimiting neurodegenerative disease caused by an accumulation of lipids fats in the liver, brain and spleen.
The symptoms of niemannpick disease type a npda are. Adult patients are often referred to clinicians with psychosis or other major psychiatric problems. Treatment is focused on helping people live with their symptoms. Niemannpick disease type d or nova scotia form is now believed to be the same condition as niemannpick disease type c. The national niemann pick disease foundation is an organization that supports as well as promotes research related to finding cures for all forms of niemann pick disease. Gaucher disease is a rare, inherited metabolic disorder in which deficiency of the enzyme glucocerebrosidase results in the accumulation of harmful quantities of certain fats lipids, specifically the glycolipid glucocerebroside, throughout the body especially within the bone marrow, spleen and liver. Niemann pick disease is a condition that affects many body systems. Treatment of npc may require the coordinated efforts of a team of specialists.
Niemann pick disease is a class of inherited lipid storage diseases. Niemannpick disease definition of niemannpick disease. Isabel and toni now lead the niemannpick support groups in spain fundacion niemannpick and the uk niemannpick disease group respectively. Approximately 95% of cases are caused by mutations in the npc1 gene, referred to as type c1. Type a is the infantile form that generally leads to death in early childhood. Niemannpick disease is a condition that affects many body systems. Type b is often called the chronic or nonneuropathic form in which affected individuals have absence of neurologic involvement and prolonged survival.
A company limited by guarantee and registered in england and wales number 10646129. Niemannpick disease npd is a lipid storage disorder that results from the deficiency of a lysosomal enzyme, acid sphingomyelinase. It is the most severe form, occurs in early infancy and is seen primarily in jewish families. Niemannpick disease is a rare hereditary condition that affects 1 in 15,000 people but can be extremely lifethreatening. Excessive muscle contractions dystonia or eye movements. Niemannpick type c disease lvhn scholarly works lehigh.
In 1996 the group was granted charitable status as an independent charity the niemannpick disease group uk. What are the symptoms of niemannpick disease, types a and b, and what treatment is available. The clinical presentation and heatlabile sphingomyelinase activity of this type f niemann pick disease distinguishes it from other types of niemann pick disease. Niemann pick disease npd is a disorder of fat metabolism that causes abnormalities of the skin, eyes, musculoskeletal system, nervous system, liver, and lymphoid organs. Niemann pick type c, npc, guidelines, diagnosis, management background niemann pick type c npc disease is a rare genetic disease whose clinical spectrum ranges from a fatal antenatal disorder to an adultonset chronic neurodegenerative disease. This gene provides instructions for producing an enzyme called acid sphingomyelinase. The signs and symptoms you experience depend on the type and severity of your condition.
Niemannpick type c disease is an autosomal recessive neurovisceral lipid storage disorder which leads to systemic and neurological abnormalities including ataxia, seizures, and loss of speech. Niemannpick disease type c or niemannpick c disease, often abbreviated as npc or npc, is currently the generic name widely used to designate the condition, irrespective of which gene, npc1 or npc2, is mutated. Niemannpick disease is one of a group of lysosomal storage diseases that affect. Niemannpick disease type b genetic and rare diseases. The neurologic symptomatology in 22 patients with niemannpick disease type c have been analyzed and reported from the developmental and metabolic neurology branch, national institute of neurological disorders and stroke, national institutes of health, bethesda, md. The original description of npd referred to what is currently termed npd type a, which is a fatal disorder of early childhood characterized by failure to thrive, hepatosplenomegaly, and a rapidly progressive ne. Aug 29, 2011 national niemann pick disease foundation. Niemannpick type c npc disease is a neurovisceral disorder. The broad clinical spectrum ranges from a neonatal rapidly fatal disorder to an adultonset chronic neurodegenerative disease. It is characterized by the bodys inability to transport cholesterol and other fatty substances lipids into the cells. Niemannpick disease information page national institute of. Niemannpick disease, smpd1associated refers to two different types of niemannpick disease which are associated with the smpd1 gene there are approximately 1,200 cases of npa and npb worldwide with the majority of cases being type b or an intermediate form.
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