Dementia genetic cause

Watts GD, Wymer J, Kovach Ml et al. (2004) Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Nat Genet 36, 377-381. 

Cardiovascular and cerebrovascular disorders associated with lipid metabolism disturbance and atherosclerosis represent major risk factors for dementia (3,25,59). Atherosclerosis is the primary cause of heart disease and stroke in which genetic and environmental factors converge (553). More than 90% of patients older than 70-80 yr with dementia show signs of atherosclerosis in their arteries and a clear cerebrovascular component in their dementia process. It is very likely that pure AD is practically absent in octogenarians, in whom the prevalent diagnosis is vascular or mixed dementia (3,25,59), in which the APOE-4 allele also accumulates (18-20,554). 

The cause of Alzheimer s disease is unknown, but genetic factors clearly play a role. One clue supporting this view is provided by the observation that individuals with Down syndrome, a common cause of mental retardation, frequently develop a dementia similar to Alzheimer s disease during early adulthood. Vascular dementia, which is also called multi-infarct dementia, results from the accumulation of tiny strokes. Individually, these strokes or infarcts are too small to cause any noticeable problem, but as they accumulate, they produce deficits similar to Alzheimer s disease. Other neurological diseases such as Parkinson s disease, Pick s disease, and Huntington s disease cause slow deterioration of the brain that ultimately leads to a degenerative dementia. 

Although chelation is not helpful for Alzheimer s disease patients, it is the key to treating patients with dementia due to Wilson s disease. Wilson s disease is a genetically inherited disorder that usually strikes before age 30. The disease causes toxic levels of copper to accumulate in the liver, brain, eyes, and kidney. Untreated, Wilson s disease leads to tremors, cirrhosis, depression, psychosis, dementia, and ultimately death. Chelation with penicillamine (Cuprimine) can stop and even reverse the accumulation of copper. 

Dementia has reached epidemic proportions with an estimated 4.6 million new cases worldwide each year... it is a true disease, cause by exposure to several genetic and non-genetic risk factors. 

Alzheimer s disease, which is characterized by a loss of memory, occurs in elderly patients and was initially thought of as presenile dementia. The incidence of the disease drastically increases with age (from approximately 5% at 65 to 90% or more at 95 years of age). Studies have revealed a specific molecular and genetic mechanism in causing Alzheimer s disease.58,59... 

Alois Alzheimer first described Alzheimer s disease in Germany in 1907. There are approximately 3-4 million people in the United States with Alzheimer s disease, about 10% of all those over 70 years of age. The health care cost of treatment is more than 80 billion per year, and the cost of caring for one patient with Alzheimer s disease is more than 50,000 per year when the disease is advanced. Alzheimer s disease is one of the most common reasons that a person is placed in a nursing home. Several genetic factors have been tied to Alzheimer s disease and other dementias, but very often there seems to be no family history, and the cause of Alzheimer s disease is unknown at this time. 

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