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Pupil response biomarkers distinguish amyloid precursor protein mutation carriers from non-carriers
Journal article   Open access   Peer reviewed

Pupil response biomarkers distinguish amyloid precursor protein mutation carriers from non-carriers

S. Frost, Y. Kanagasingam, H. Sohrabi, K. Taddei, R. Bateman, J. Morris, T. Benzinger, A. Goate, C. Masters and R. Martins
Current Alzheimer Research, Vol.10(8), pp.790-796
2013
DOI: https://doi.org/10.2174/15672050113109990154
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Abstract

Context: Alzheimer’s disease (AD) is usually only diagnosed many years after pathology begins. Earlier detection would allow emerging interventions to have a greater chance to preserve healthy brain function. A rare form of Alzheimer’s disease, caused by autosomal-dominant mutations, affects carriers with 100% certainty and at a younger age specific to their mutation. Studying families with these mutations allows a unique investigation of the temporal sequence of biomarker changes in Alzheimer’s disease. Objective: To determine whether the pupil flash response (PFR), previously reported to be altered in sporadic Alzheimer’s disease, is different in pre-symptomatic mutation carriers. Design: Researchers blinded to participant mutation status collected pupil response data from cognitively normal participants in the Dominantly Inherited Alzheimer's Network (DIAN) Study during 2010-2011. Setting: The pupil response was examined at the McCusker Alzheimer’s Research Foundation in Perth, Western Australia. Participants: Participants were from a single family harboring an Amyloid-Beta Precursor Protein genetic mutation (APPGlu693Gln). Six carriers and six non-carriers were available for pupil testing (age 43.0±8.3 years old, 2 males and 10 females, 4 with hypertension). Main Outcome Measure: Pupil response parameter comparison between mutation carriers and non-carriers. Results: 75% recovery time was longer in mutation carriers (p<0.0003, ROC AUC 1.000, Sensitivity 100%, Specificity 100%) and percentage recovery 3.5 seconds after stimulus was less in mutation carriers (p<0.006, ROC AUC 1.000, Sensitivity 100%, Specificity 100%). Conclusions: PFR changes occur pre-symptomatically in autosomal dominant AD mutation carriers, supporting further investigation of PFR for early detection of AD.

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