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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"

Variants (also called mutations) in the TREM2 gene or the TYROBP gene can cause PLOSL. The proteins produced from these two genes work together to activate certain kinds of cells. These proteins appear to be particularly important in osteoclasts, which are specialized cells that break down and remove (resorb) bone tissue that is no longer needed. Osteoclasts are involved in bone remodeling, which is a normal process that replaces old bone tissue with new bone. The TREM2 and TYROBP proteins are also critical for the normal function of microglia, which are a type of immune cell in the brain and spinal cord (central nervous system). Although these proteins play essential roles in osteoclasts and microglia, their exact function in these cells is unclear.

Variants in the TREM2 or TYROBP gene disrupt normal bone remodeling and lead to progressive brain abnormalities in people with PLOSL. Researchers believe that the bone changes seen in people with this disorder are related to malfunctioning osteoclasts, which are less able to resorb bone tissue during bone remodeling. In the central nervous system, TREM2 or TYROBP gene variants cause widespread abnormalities of microglia. Researchers are working to determine how these abnormalities lead to the neurological problems associated with PLOSL.

MedlinePlus Genetics: Causes

","key":"forms","title":"What causes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy?"},{"bodyHtml":"

The bone abnormalities associated with PLOSL usually become apparent in a person's twenties.  In most affected individuals, pain and tenderness in the ankles and feet are the first symptoms of the disease.  Several years later, broken bones (fractures) begin to occur frequently, particularly in the bones of the ankles, feet, wrists, and hands.  Bone pain and fractures are caused by thinning of the bones (osteoporosis) and cysts in the bones.  These abnormalities weaken bones and make them more likely to break.

The brain abnormalities characteristic of PLOSL typically appear in a person's thirties. Personality changes are among the first noticeable problems, followed by a loss of judgment, feelings of intense happiness (euphoria), a loss of inhibition, and poor concentration. These neurologic changes cause significant problems in an affected person's social and family life.  As the disease progresses, it causes a severe decline in thinking and reasoning abilities (dementia). Affected people ultimately become unable to walk, speak, or care for themselves. People with this disease usually live only into their thirties or forties.

Source: MedlinePlus Genetics

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