Chance Discovery Of Normal Cognition In Patient Without Apolipoprotein E Could Point To New Alzheimer Treatments

Chance Discovery Of Normal Cognition In Patient Without Apolipoprotein E Could Point To New Alzheimer Treatments
A new free access paper published online before print in the journal JAMA Neurology, entitled, "Effects of the Absence of Apolipoprotein E on Lipoproteins, Neurocognitive Function, and Retinal Function" (JAMA Neurol. Published online August 11, 2014. DOI: 10.1001/.jamaneurol.2014.2011) documents a 40-year-old African American man referred to the Lipid Clinic, University of California, San Francisco. The patient was unresponsive to treatment of a rare form of severe dysbetalipoproteinemia (abnormally high levels of cholesterol and triglycerides in the blood), and severe hyperlipidemia, in which cholesterol levels spike to a degree that pools of fatty tissue form under his skin. However, this patient, who exhibits normal cognitive function, was also discovered to have no apolipoprotein E (a poE) -- a protein made by the APOE gene believed to be important for brain function, but a mutation of which is also a known major risk factor for the most common form of Alzheimer's disease (AD). The researchers observed that the patient involved showed no signs or symptoms of any neurological deficit, ophthalmological disease, or cardiovascular disease (CVD). And while the patient was delayed in talking until age 3 years, at school he performed better in mathematics than reading, finishing 11th grade with a C+/B average. His parents and four maternal half siblings have no evidence of CVD. His father, not available for study, is known to be of good health and to have a normal lipid panel. The patient has three healthy children aged four, five, and seven years, and they and his 57-year-old mother have no xanthomas. The 20 percent of the population who carry one copy of APOE4 have up to five times the risk of developing Alzheimer’s, as do people without that variant,
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