Drazich-Taylor, Erin Halley Squillacote;
Todd, Emily;
Convery, Rhian;
Bocchetta, Martina;
Clarke, Mica;
Warren, Jason D;
Fox, Nick C;
... Rohrer, Jonathan Daniel; + view all
(2023)
Q351R MAPT mutation is associated with a mixed 3R/4R tauopathy and a slowly progressive cognitive, behavioural and parkinsonian syndrome.
Journal of Neurology, Neurosurgery and Psychiatry
, 94
(2)
pp. 169-171.
10.1136/jnnp-2022-329330.
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Abstract
We have previously reported the initial clinical and imaging findings of a woman with a novel MAPT Q351R mutation.1 2 We continued to assess her following these case reports until she died and have now analysed her brain at postmortem. Her case was of unique interest due to the novelty of the mutation and its clinical features1 as well as the strong binding seen on flortaucipir positron emission tomography (PET) imaging,2 which was suggestive of a very specific pathological finding, that of a mixed 3R/4R tauopathy, similar to that seen in other MAPT mutations (V337M and R406W),3 4 and consistent with the same type of paired helical filament tau pathology seen in Alzheimer’s disease (AD). She is the first patient with this mutation to come to autopsy and we report the findings in this study.
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