TY - JOUR T1 - Q351R <em>MAPT</em> mutation is associated with a mixed 3R/4R tauopathy and a slowly progressive cognitive, behavioural and parkinsonian syndrome JF - Journal of Neurology, Neurosurgery &amp; Psychiatry JO - J Neurol Neurosurg Psychiatry SP - 169 LP - 171 DO - 10.1136/jnnp-2022-329330 VL - 94 IS - 2 AU - Erin Halley Squillacote Drazich-Taylor AU - Emily Todd AU - Rhian Convery AU - Martina Bocchetta AU - Mica Clarke AU - Jason D Warren AU - Nick C Fox AU - Tamas Revesz AU - Jonathan Daniel Rohrer Y1 - 2023/02/01 UR - http://jnnp.bmj.com/content/94/2/169.abstract N2 - 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.A patient with a Q351R mutation was seen over a 20-year period, during which time she was assessed clinically, and with repeated MR brain imaging (11 scans in total) as well as flortaucipir PET imaging. In this report, her MR imaging is compared against a cohort of 43 healthy individuals (all women; mean age 61.5 years old, range 49.7–68.5 years old). All participants gave their consent to take part. At the time of death, her brain was donated to the Queen Square Brain Bank for Neurological Disorders and underwent postmortem analysis.Clinical historyShe presented to a specialist cognitive neurology clinic in her late 40s with a 4-year history of amnestic symptoms and mild behavioural change, mainly in the form of apathy. Neurological examination was normal, but her initial … ER -