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.
Laskowitz DT, Kernagis DN. Congenital Absence of Apolipoprotein E and Neurological Function. JAMA Neurol. 2014;71(12):1578-1579. doi:10.1001/jamaneurol.2014.3342