Overview. Niemann-Pick is a rare, inherited disease that affects the body's ability to metabolize fat (cholesterol and lipids) within cells. These cells malfunction and, over time, die. Niemann-Pick disease can affect the brain, nerves, liver, spleen, bone marrow and, in severe cases, lungs.
Additional symptoms include weakness, an enlarged liver and spleen, swollen lymph nodes, and profound brain damage by six months of age. Children with this type rarely live beyond 18 months.
No cure exists for Niemann-Pick disease. No effective treatment is available to people with type A or B. For people with mild to moderate type C, a drug called miglustat (Zavesca) may be an option.
Individuals with Niemann-Pick disease types C1 and C2 have problems with speech and swallowing that worsen over time, eventually interfering with feeding. Affected individuals often experience progressive decline in intellectual function and about one-third have seizures.
People with FTD have abnormal substances (called tangles, Pick bodies, Pick cells, and tau proteins) inside nerve cells in the damaged areas of the brain. The exact cause of the abnormal substances is unknown. Many different abnormal genes have been found that can cause FTD.
Pick's disease affects people at younger ages than dementia or similar conditions. People diagnosed with Pick's disease are most likely in their 50s or 60s. But there are cases of this condition in people as young as 20 or as old as 80. There's also some evidence that Pick's disease can run in families.
Up to 25% of people with Pick's disease received a gene that causes it from a parent. Experts aren't sure why it happens in other cases.
The Niemann-Pick gene mutations are passed from parents to children in a pattern called autosomal recessive inheritance. This means that both the mother and the father must pass on the defective form of the gene for the child to be affected. Niemann-Pick is a progressive disease, and there is no cure.
Some cases of Pick disease are caused by heterozygous mutation in the presenilin-1 gene (PSEN1; 104311) on chromosome 14q24.
The German pediatrician Albert Niemann described the first NPD patient in 1914 in an Ashkenazi Jewish infant who presented with massive hepatosplenomegaly and a rapidly progressive neurodegenerative course that led to her death at 18 months of age [1].
Pick disease, also known as frontotemporal dementia, is the most common cause of dementia in patients under 60 years of age and is the third most common cause of dementia in patients over 65 years old.
Death usually occurs from complications of Pick's disease and the behavioral changes it causes.
NPC is estimated to occur in 1 in 100,000-120,000 live births. However, many cases go misdiagnosed or undiagnosed, making it difficult to determine the disorder's true frequency in the general population.
What causes Niemann-Pick disease type C in children? Niemann-Pick disease type C is caused by a mutation in either the NPC1 or NPC2 genes, which provide instructions for the production of special proteins in lysosomes that are responsible for the movement of cholesterol and other fats.
Niemann-Pick disease, type C is a lethal neurodegenerative disease resulting in premature death. A number of studies have looked at survival as a function of age of neurological disease onset. Imrie, et al.
The most common signs of frontotemporal dementia involve extreme changes in behavior and personality. These include: Increasingly inappropriate social behavior. Loss of empathy and other interpersonal skills, such as having sensitivity to another's feelings.
Niemann-Pick disease type C (NP-C) is a rare, progressive genetic lysosomal lipid storage disease caused by mutations in the NPC1 or NPC2 gene and incidence rate of 1/120000.
Frontotemporal dementia affects the front and sides of the brain (the frontal and temporal lobes). Dementia mostly affects people over 65, but frontotemporal dementia tends to start at a younger age. Most cases are diagnosed in people aged 45-65, although it can also affect younger or older people.
Low vitamin D levels were linked with an increased risk of both dementia and stroke over the following 11 years. Based on this observational study, people with low vitamin D levels were found to have a 54% greater chance of developing dementia compared with people whose levels were normal.
In this paper, I briefly describe the magnetic resonance imaging (MRI) findings in Pick disease, progressive nonfluent aphasia, semantic dementia, and dementia with grain. In Pick disease, so-called knife-blade atrophy is seen in the frontal and temporal lobes at a relatively early stage of the disease.
Frontotemporal dementia (FTD) is one of the less common types of dementia. It is sometimes called Pick's disease or frontal lobe dementia. The first noticeable FTD symptoms are changes to personality and behaviour and/or difficulties with language.
How Do You Prevent Pick Disease? There is no known way to prevent Pick disease. Being alert for symptoms and signs may allow earlier diagnosis and treatment. Appropriate treatment can slow or relieve symptoms and behavior problems in some people.
Over time, FTD predisposes an individual to physical complications such as pneumonia, infection, or injury from a fall. The most common cause of death is pneumonia. Average life expectancy is 7 to 13 years after the start of symptoms.