Resistance to autosomal dominant Alzheimer's disease in an APOE3 Christchurch homozygote: a case report
JF Arboleda-Velasquez, F Lopera, M O'Hare… - Nature medicine, 2019 - nature.com
Nature medicine, 2019•nature.com
We identified a PSEN1 (presenilin 1) mutation carrier from the world's largest autosomal
dominant Alzheimer's disease kindred, who did not develop mild cognitive impairment until
her seventies, three decades after the expected age of clinical onset. The individual had two
copies of the APOE3 Christchurch (R136S) mutation, unusually high brain amyloid levels
and limited tau and neurodegenerative measurements. Our findings have implications for
the role of APOE in the pathogenesis, treatment and prevention of Alzheimer's disease.
dominant Alzheimer's disease kindred, who did not develop mild cognitive impairment until
her seventies, three decades after the expected age of clinical onset. The individual had two
copies of the APOE3 Christchurch (R136S) mutation, unusually high brain amyloid levels
and limited tau and neurodegenerative measurements. Our findings have implications for
the role of APOE in the pathogenesis, treatment and prevention of Alzheimer's disease.
Abstract
We identified a PSEN1 (presenilin 1) mutation carrier from the world’s largest autosomal dominant Alzheimer’s disease kindred, who did not develop mild cognitive impairment until her seventies, three decades after the expected age of clinical onset. The individual had two copies of the APOE3 Christchurch (R136S) mutation, unusually high brain amyloid levels and limited tau and neurodegenerative measurements. Our findings have implications for the role of APOE in the pathogenesis, treatment and prevention of Alzheimer’s disease.
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