Neimann-Pick Type C is a Rare Genetic Disease

Neimann-Pick Type C is a rare genetic disorder that is sometimes referred to as “Childhood Alzheimer’s”. In April of 2017, a toddler named Marian McGlocklin was in the news because she had been diagnosed with Neimann-Pick Type C. The rare genetic disease is believed to affect 1 in 150,000 live births in the United States. The exact number is unknown because it is often misdiagnosed.

Neimann-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 leads to an abnormal accumulation of lipids within various tissues in the body (including brain tissue). The accumulation of lipids damages the affected areas.

Most cases of Neimann-Pick Type C are detected during childhood and progress to cause life-threatening complications by the second or third decade of life. NPC is caused by mutations in the NPC1 gene (NPC type 1C) or the NPC2 gene (NPC type 2C). The disease is inherited in an autosomal recessive manner.

Autosomal recessive means two copies of an abnormal gene must be present in order for the disease or trait to develop. In other words, the mother would have to pass a specific mutated gene onto a child, and the father would also have to pass the same specific mutated gene onto a child, in order for the child to have a genetic disease like NPC.

Parents who have a mutated NPC1 gene, or a mutated NPC2 gene, probably don’t know they have it. The parents would not have any of the symptoms Neimann-Pick disease themselves (because it takes two mutated genes for the disease to be expressed).

NPC is a highly variable disorder. This means that people who have it could have some, but not all, of the symptoms that are associated with it. One symptom that appears in infants who have NPC is an abnormal enlargement of the liver or spleen.

Another symptom is the slowly progressive impairment of intellectual ability (cognitive impairment). This is probably why some call NPC “Childhood Alzheimer’s”. The two genetic diseases are not the same, though. People who have early-onset Alzheimer’s inherited a mutated gene from one of their parents. Specifically, a single-gene mutation on chromosomes 21, 14, and 1. A certain form of the APOE gene appears to increase a person’s risk of developing late-onset Alzheimer’s.

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