Multimodal Imaging in a Patient With Alzheimer Disease and Parkinsonism Because of a Presenilin-1 Mutation

A correct clinical diagnosis of motor dysfunction accompanied by cognitive impairment remains challenging. Recent advances in molecular imaging biomarkers hold promise to overcome this issue. A 37-year-old woman presenting with parkinsonism and cognitive impairment underwent both multimodal neuroima...

Full description

Saved in:
Bibliographic Details
Published in:Clinical nuclear medicine 2021-09, Vol.46 (9), p.e483-e484
Main Authors: Lu, Jia-Ying, Sun, Yi-Min, Yen, Tzu-Chen, Zuo, Chuan-Tao, Wang, Jian
Format: Article
Language:English
Citations: Items that this one cites
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:A correct clinical diagnosis of motor dysfunction accompanied by cognitive impairment remains challenging. Recent advances in molecular imaging biomarkers hold promise to overcome this issue. A 37-year-old woman presenting with parkinsonism and cognitive impairment underwent both multimodal neuroimaging and genetic testing. Her main findings on PET included diffuse tau accumulation in the cerebral cortex and left putamen, increased cerebellar amyloid deposits, asymmetrically reduced dopamine transporter binding, and mild hypermetabolism in the putamen. Genetic analysis revealed the presence of a presenilin-1 mutation (C.1157T>G). These findings suggested a diagnosis of early-onset autosomal dominant Alzheimer disease accompanied by parkinsonism.
ISSN:0363-9762
1536-0229
DOI:10.1097/RLU.0000000000003674