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Article

A heterozygous de novo PSEN1 mutation in a patient with early-onset parkinsonism.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Feb 2022

Chen Yueting, Liu Peng, Xie Fei, Wang Bo, Lin Zhiru, Luo Wei

Abstract excerpt

BACKGROUND: Mutations in presenilin 1 (PSEN1) are the most common known genetic cause of early-onset Alzheimer's disease. Patients with PSEN1 mutations exhibit broad phenotypes. Here, we report clinical, neuroimaging and genetic findings in a patient with a de novo mutation in PSEN1 (c.697A > G, p.M233V) presenting with early-onset parkinsonism as the initial and primary symptom. METHODS: We recruited a family...

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PMID: 34843019
DOI: 10.1007/s10072-021-05726-w

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