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Niemann-Pick disease (NPD) is a group of rare inherited disorders of fat metabolism. At least five types of Niemann-Pick disease have been identified (NPD types A, B, C, D, and E). Symptoms of types A and B occur as a result of a deficiency of the enzyme acid sphingomyelinase (ASM), which is needed to break down sphingomyelin, a fatty substance found mostly in the brain and nervous system. This deficiency results in abnormal accumulation of excessive amounts of sphingomyelin in many organs of the body such as the liver, spleen, and brain. Symptoms of type C occur because of impaired trafficking of large molecules within cells, which results in the accumulation of excessive amounts of cholesterol and other lipids (glycosphingolipids) tissues throughout the body. The metabolic defect in type C can lead to a secondary reduction in ASM activity in some cells.
The division of Niemann Pick disease into groups A, B, C and D was proposed by Allan Crocker in 1961 after he and Sidney Farber had expanded the category of Niemann-Pick disease by applying the diagnosis to all patients with "foam cells" and lipid storage in the tissues. This had led to the inclusion of older and less severely affected people than those originally described by Niemann and Pick.
Symptoms common to all types of Niemann-Pick disease include yellow discoloration of the skin, eyes, and/or mucous membranes (jaundice), progressive loss of motor skills, feeding difficulties, learning disabilities, and an abnormally enlarged liver and/or spleen (hepatosplenomegaly). The different types of Niemann-Pick disease are inherited as autosomal recessive traits.
Certain characteristics are common to all types of Niemann-Pick disease. Symptoms may include poor feeding habits, failure to grow and gain weight at the expected rate (failure to thrive), physical and mental impairment, swelling (distention) of the abdomen, and/or vomiting. Abnormal enlargement of the liver and spleen (hepatosplenomegaly) occurs in all types of this disorder, but the severity of the symptoms varies greatly. In some cases, swelling of the lymph nodes may also occur (lymphadenopathy). Some children with Niemann-Pick disease have yellow discoloration of the skin, eyes, and/or mucous membranes (jaundice). Abnormal amounts of sphingomyelin, cholesterol, glycosphingolipids, and bis (monoacylglycero)-phosphate accumulate in the organs of the chest and abdomen. In some cases, affected individuals may experience neurological impairment including loss of speech, impairment of voluntary muscle movements (myoclonus), convulsions, and/or dementia.
Niemann-Pick disease type A is the most common form of the disease. Activity of the acid sphingomyelinase (ASM) enzyme ranges from none to 1% of normal. The abnormal accumulation of fats in various parts of the body occurs in the developing fetus. Between the ages of six months to 12 months, low levels of the enzyme sphingomyelinase results in the abnormal enlargement of the liver and spleen (hepatosplenomegaly) and abnormalities of the nervous system. Affected infants may experience poor feeding habits and failure to thrive, which may become apparent during the first few weeks of life.
Additional symptoms may include abdominal swelling (distention), vomiting, diarrhea, fever (pyrexia), bright red spots in the eyes (macula), and/or a brownish-yellow skin discoloration. Abnormal enlargement of the liver occurs more often than enlargement of the spleen. A gradual decline of motor and intellectual function resulting in a degenerative muscle weakness and floppiness may also occur. An affected infant may lose the ability (regression) to hold his or her head up, sit up, or manipulate objects. In some cases, seizures and uncontrolled involuntary muscle movements (spasticity) may also occur. The severity of the symptoms increases rapidly and life-threatening complications usually occur early during childhood.
Individuals with Niemann Pick disease Type B have ASM enzyme activity that is approximately 10% of normal. Symptoms of Niemann-Pick disease type B begin during infancy or early childhood and typically include an abnormally enlarged liver and spleen (hepatosplenomegaly). Bright red spots in the eyes may be present in some affected individuals. The symptoms of this type of Niemann-Pick disease progress more slowly than other types. Nervous system impairment in type B is minimal in comparison to other types. Affected children have an abnormally slow growth rate and may have an increased susceptibility to repeated lung (respiratory) infections. The severity of Niemann-Pick disease type B varies greatly from case to case.
The onset of Niemann-Pick disease Type C (NPC) usually occurs in children between the ages of three and 10. However, NPC can present at any time from fetal life to late adulthood. Life threatening complications may occur at any time. The liver and spleen are often enlarged (hepatosplenomegaly) in infants and children, but many affected individuals do not have enlarged organs, particularly those who present later in life. Other symptoms include a yellowish discoloration of the skin, eyes, and/or mucous membranes (jaundice), progressive impairment of voluntary movements (because of ataxia, dystonia or ataxia), seizures, and/or tremors. Additional symptoms include an inability to form words and speak clearly (dysarthria); difficulty swallowing (dysphagia), and sudden loss of muscle tone, manifest as head drops or falls, brought on by emotional excitement, particularly laughter (gelastic cataplexy).
A characteristic symptom associated with Niemann-Pick disease type C is difficulty or loss of rapid up and down eye movements (vertical supranuclear gaze palsy). Over time, horizontal rapid eye movements are also impaired, and are eventually lost.
Individuals with Niemann-Pick disease type C are unable to transport lipids efficiently within cells. As a result, excessive amounts of cholesterol and glycosphingolipids accumulate in the liver, spleen, and brain. The slow progression of symptoms generally leads to the loss of mental and motor function in early adulthood. Death usually occurs in the late second or third decade from aspiration pneumonia, but patients have survived into their seventh decade.
Niemann-Pick disease type D (Nova Scotia variant) is biochemically and clinically inseparable from type C, and results from mutations in NPC1 gene. The group was created to define patients who shared a common ancestor from Nova Scotia.
Niemann-Pick disease type E is a variant of Type C but typically does not begin until adulthood. Symptoms may include a moderately enlarged liver and spleen. In most cases, no neurological impairment is present. In rare cases, neurological symptoms may include the impaired ability to coordinate movement (ataxia), progressive dementia, and impaired eye movements (ophthalmoplegia).
Another possible form of the disease, which affects people of Spanish descent, has been named Niemann-Pick disease type F or sea-blue histiocyte disease. The disorder is characterized by abnormal (sea blue) cells in the blood and/or bone marrow. Symptoms may include an abnormally enlarged liver or spleen, scarring of the liver (cirrhosis), and bright red spots in the eyes (macula). Impairment of the neurological system is minimal. It is not clear if this is a mild form of Niemann-Pick disease type B, a separate form of Niemann-Pick disease, or a completely different disorder altogether.
Niemann Pick disease is a group of rare disorders that are inherited as autosomal recessive genetic traits.
Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother. Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%. The risk is the same for males and females.
Type A and B
Niemann Pick disease types A and B are caused by an abnormality in the gene for acid sphingomyelinase (ASM) that leads to a deficiency of this enzyme.
Symptoms of Niemann-Pick disease types A and B develop due to a deficiency of ASM. This results in the abnormal accumulation of a fatty substance (i.e., sphingomyelin) in various organs of the body including the brain, liver, and/or spleen. In Niemann-Pick disease type B, sphingomyelin rarely accumulates in the brain, which is why Niemann-Pick disease type B is rarely associated with neurological abnormalities.
The defective gene responsible for Niemann Pick disease types A and B has been mapped to the short arm (p) of chromosome 11 (11p15.4-p15.1). Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22, and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated "p" and a long arm designated "q". Chromosomes are further sub-divided into many bands that are numbered. For example, "chromosome 11p15.4-p15.1" refers to band 15.4-15.1 on the short arm of chromosome 11. The numbered bands specify the location of the thousands of genes that are present on each chromosome.
Type C and D
Niemann Pick disease types C and D are caused by an abnormality in one of two specific genes for cholesterol metabolism (NPC1 and NPC2) that leads to a reduction in cholesterol metabolism. The majority of affected individuals have a mutation in the NPC1 gene. Fewer than 15 patients have been identified with mutations in the NPC2 gene.
The symptoms of Niemann-Pick disease type C develop as a consequence of impaired trafficking of cholesterol and other lipids within cells. Free cholesterol accumulates in peripheral tissues (liver, spleen and bone marrow), whereas complex fats (glycosphingolipids) are the predominant stored compounds in the brain. Cholesterol accumulation often leads to a secondary deficiency of acid sphingomyelinase.
The defective genes responsible for Niemann-Pick disease type C, termed NPC1 and NPC2, have been mapped to the long arm (q) of chromosome 18 (18q11-q12) and the long arm (q) of chromosome 14 (14q24.3), respectively. More than 150 different gene mutations have been identified in NPC1. The most frequent mutation, occurring in 15% of cases in Western Europe, is I1061T. Another mutation (G992W) has been found almost uniformly in persons with the Nova Scotia variant (Niemann-Pick disease D). Two affected persons have been identified with gene mutations in the NPC2 gene.
Niemann-Pick disease affects males and females in equal numbers. These diseases have been identified in people of all races.
The number of individuals affected by Niemann-Pick disease type A appears to be higher in families of Ashkenazi Jewish ancestry with one in 80 potentially being carriers for the disease. Type B is also more common in Tunisia, Morocco, and Algeria. According to one estimate, Niemann-Pick disease type B affects approximately 1,000 individuals worldwide.
The prevalence of Niemann-Pick disease type C in Western Europe has been estimated to be 1 in 150,000. More than 300 individuals are affected by Niemann-Pick disease type C in the United States. Type C occurs more frequently in the Spanish-American population of southern New Mexico and Colorado. The term Niemann-Pick disease type D is used to describe a specific population of Acadians from Nova Scotia, Canada, and their descendants.
Symptoms of the following disorders can be similar to those of Niemann-Pick disease. Comparisons may be useful for a differential diagnosis:
Refsum syndrome is a slowly progressive rare disorder of fat metabolism. It is characterized by the abnormal accumulation of phytanic acid in the blood and other tissues of the body. The major features include progressive inflammation and pigmentation of the retina of the eyes (retinitis pigmentosa), burning or tingling sensations in the arms and legs (peripheral neuropathy), the impaired ability to coordinate movement (ataxia), and elevated protein in the fluid that surrounds the spinal cord and brain. Refsum syndrome is inherited as an autosomal recessive trait. (For more information on this disorder, choose "Refsum" as your search in the Rare Disease Database.)
Tay-Sachs disease is a rare inherited disorder that results in the progressive destruction of the central nervous system. In affected individuals, the body is unable to properly metabolize certain fats (lipids) because of the absence of the enzyme hexosaminidase A. This disease is generally found in children of Eastern European Jewish heritage. Symptoms may include an abnormal startle response (reflex), muscle weakness (hypotonia), restlessness, and/or abnormal eye movements. Eventually a child with Tay-Sachs disease experiences a loss of cognitive skills. Tay-Sachs disease is inherited as an autosomal recessive trait. (For more information on this disorder, choose "Tay-Sachs" as your search term in the Rare Disease Database.)
Sandhoff disease is a rare inherited lipid storage disorder resulting in the progressive deterioration of the central nervous system. A deficiency of the enzymes hexosaminidase A and B results in the accumulation of certain fats (lipids) in the brain and other organs of the body. Symptoms in infants may include feeding problems, general weakness, and an exaggerated startle reflex in response to sudden loud noise. Motor delays and mental impairment are progressive. Sandhoff disease is inherited as an autosomal recessive trait. (For more information on this disorder, choose "Sandhoff" as your search term in the Rare Disease Database.)
Gaucher's disease is a rare inherited lipid storage disease that results in the abnormal accumulation of fats (lipid) in the body. The symptoms of this disorder may include bone deterioration, abnormal enlargement of the liver (hepatomegaly) and spleen (splenomegaly), and/or low levels of circulating red blood cells (anemia). People with Gaucher's disease typically have a swollen abdomen due to enlargement of the internal organs. People with Type II Gaucher's disease also experience central nervous system symptoms that may include overextension of the neck, tiredness, and/or the lack of response to outside stimulus (catatonia). Most types of Gaucher disease are inherited as an autosomal recessive trait. (For more information on this disorder, choose "Gaucher" as your search term in the Rare Disease Database.)
Sialidosis is a very rare inherited metabolic disorder characterized by a deficiency of the enzyme alpha-neuraminidase. This disorder belongs to a group of diseases known as lysosomal disorders. Lysosomes are particles bound in membranes within cells that break down certain fats and carbohydrates. The deficiency of alpha-neuraminidase that characterizes sialidosis leads to the abnormal accumulation of certain complex carbohydrates (mucopolysaccharides) and certain fatty substances (mucolipids) in many tissues of the body. The symptoms of sialidosis Type I, which typically begin during the 2nd decade of life, may include sudden involuntary muscle contractions (myoclonus), the appearance of red spots (cherry-red macules) in the eyes, and/or other neurological findings. Sialidosis Type II may begin during infancy or later. It is characterized by the same visual characteristics as sialidosis Type I, as well as other symptoms, such as mildly coarse facial features, skeletal malformations, and/or mild mental retardation. Sialidosis is inherited as an autosomal recessive trait. (For more information on this disorder, choose "Sialidosis" as your search term in the Rare Disease Database.)
The diagnosis of Niemann-Pick disease is made based upon a thorough clinical evaluation, a detailed patient history, and a variety of specialized tests.
The diagnosis of Niemann-Pick disease types A or B is confirmed by a blood test that reveals low levels of the acid sphingomyelinase (ASM) enzyme in white blood cells. DNA testing can be used to identify ASM gene mutations. Carrier testing and prenatal diagnosis are available if a specific ASM gene mutation is identified in an affected family member.
The diagnosis of Niemann-Pick disease type C is made by testing a sample of cells obtained by skin biopsy for their ability to transport cholesterol and other lipids. Transport of cholesterol is determined by measuring the conversion of one form of cholesterol (free cholesterol) to another (cholesterol ester). The process is known as esterification. Storage of cholesterol is demonstrated by staining the cells with a compound that glows under ultraviolet light (filipin). DNA testing can be used to identify over 90% of individuals with a NPC1 gene mutation. DNA testing for NPC2 gene mutations is available on a research basis only. Carrier testing and prenatal diagnosis are available if a NPC1 mutation has been identified in an affected family member.
Treatment for individuals with Niemann-Pick disease is symptomatic and supportive. No specific treatment is available for any type of this disease. Supportive care from these specialists may be helpful: pulmonologist for respiratory problems; cardiologist for heart problems; liver and spleen specialist; nutritionist; physical therapist; gastroenterologist and learning specialist.
Individuals with types C and D are often placed on low cholesterol diets. However, such diets and drugs that lower cholesterol levels in the body have not been effective in halting the progress of the disease.
Genetic counseling will be of benefit for affected individuals and their families.
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government website.
For information about clinical trials being conducted at the National Institutes of Health (NIH) in Bethesda, MD, contact the NIH Patient Recruitment Office:
Tollfree: (800) 411-1222
TTY: (866) 411-1010
For information about clinical trials sponsored by private sources, contact:
Paul Orchard, MD, is the principal investigator for a study being carried out at the University of Minnesota Medical Center of treatment of several inborn errors of metabolism, including Niemann-Pick disease, by bone marrow transplantation. For information, visit the ClinicalTrials.gov web site or contact Dr. Orchard at: (612) 626-2961 or email@example.com.
Actelion Ltd., a Swiss biopharmaceutical company, is studying the drug miglustat (Zavesca) as a possible treatment for people with Niemann Pick type C. Initial research demonstrated that miglustat is crossing the blood-brain barrier and suggests that the drug may be restoring function of brain cells (neurons) affected by the disease process. The study includes both adult and juvenile patients. Further study is necessary to determine the long-term safety and effectiveness of this potential treatment for individuals with Niemann Pick type C. The research is being carried out at Columbia University in the United States and The Royal Manchester Children's Hospital in the United Kingdom. For information, visit the company's web site (www.actelion.com) or contact the company at:
Bone marrow transplantation is being tested as a possible treatment for Niemann-Pick disease (NPD) types A and B. Bone marrow transplantation is not recommended for individuals who have severe neurological symptoms. More research is needed to determine the long-term safety and effectiveness of this procedure as a treatment for Niemann-Pick disease types A and B. For more information about bone marrow transplantation, contact:
Dr. Edward Schuchman
The Genzyme Corporation and Mount Sinai Medical Center have completed a clinical trial of enzyme replacement therapy. For more information about this trial, contact:
Dr. Robert Desnick
Phone: (212) 659-6700
Genzyme manufactures acid sphingomyelinase, which was granted FDA orphan drug status in 2000 for the treatment of Niemann- Pick disease type B.
Both Dr. Schuchman and Dr. Desnick are members of the staff of the International Center for Types A and B Niemann-Pick Disease, a newly formed organization that provides information and support for patients with Niemann-Pick disease types A and B, as well as support to scientists and physicians. Contact information is as follows:
Department of Human Genetics
Mount Sinai School of Medicine
1425 Madison Ave.
New York, NY 10029
Tollfree: (800) 673-4685
Phone: (212) 659-6779
Dr. Carole Oddoux is in the process of setting up a genetic test for Niemann-Pick disease type A. Blood samples are needed from individuals who are known to be carriers of NPD for use as controls in the validation of the test. Please contact Dr. Oddoux if you would be willing to donate such specimens.
Carole Oddoux, Ph.D.
NYU Medical Centre
Human Genetics Prog, MSB 136
550 First Avenue
New York, NY 10016
Fax: 212-562-2642; 212-263-7590
In 2003, the Second International Conference on NPD Type C was held in Tucson, Arizona. Several possible future therapeutic strategies were outlined and, in addition, there is a report on possible gene replacement or repair and other work, including information on continuing research by Dr. Peter Lobel. Dr. Lobel is credited with discovering the NPC2 C gene. This report can be accessed by contacting the National Niemann-Pick Disease Foundation. (See the Resources section of this report for contact information). This foundation's Web site provides other information on recent and current research.
Dr. Marc Patterson, the lead investigator for current research underway at Columbia University on Niemann-Pick disease type C, is available for inquiries from patients and their families. His information is as follows:
Marc C. Patterson, MD
Head, Division of Pediatric Neurology
Columbia University Medical Center
Harkness Pavilion, HP5-542
180 Fort Washington Avenue
New York NY 10032-3791
3530 E. Campo Abierto
Tucson, AZ 85718-3327 USA
Phone #: 520-577-5106
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Home page: http://www.parseghian.org
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Crewe, CW2 6BG United Kingdom
Phone #: 440-845-2412173
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Home page: http://www.CLIMB.org.uk
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Gaithersburg, MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
Home page: http://rarediseases.info.nih.gov/GARD/
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Phone #: 877-621-1122
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Home page: http://www.hideandseek.org
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Phone #: 301-496-5751
800 #: 800-352-9424
Home page: http://www.ninds.nih.gov/
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FROM THE INTERNET
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Report last updated: 2006/05/05 00:00:00 GMT+0