Multimodal PET/MR Imaging in Early-onset Alzheimer's Disease With Parkinsonism due to a Novel Presenilin-1 (M233I) Mutation.

Abstract excerpt

We report the multimodal PET/MR imaging findings in a 31-year-old woman with a novel presenilin 1 (PSEN1) missense mutation (c.699G>A, p.M233I) who developed progressive cognitive decline and parkinsonian features. Multimodal imaging, including glucose metabolism, dopamine transporter function, amyloid-β pathology, and tau protein PET imaging, combined with structural MRI, revealed widespread abnormalities...

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