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Comment & Response
December 2014

Congenital Absence of Apolipoprotein E and Neurological Function

Author Affiliations
  • 1Department of Neurobiology, Duke University Medical Center, Durham, North Carolina
  • 2Department of Neurology, Duke University Medical Center, Durham, North Carolina
JAMA Neurol. 2014;71(12):1578-1579. doi:10.1001/jamaneurol.2014.3342

To the Editor We read with interest the article by Mak et al,1 which reported a lack of obvious neurological or retinal abnormalities in a 40-year-old patient with severe dysbetalipoproteinemia associated with the absence of functional apolipoprotein E (apoE). Although these observations would appear to contradict the compelling clinical and preclinical evidence implicating an isoform-specific role for apoE in the development of neurodegenerative disease and response to central nervous system (CNS) injury, perhaps we should not be surprised.

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