A heterozygous de novo PSEN1 mutation in a patient with early-onset parkinsonism.
Yueting ChenPeng LiuFei XieBo WangZhiru LinWei LuoPublished in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2021)
Screening for PSEN1 variations should be considered in patients with levodopa-responsive early-onset parkinsonism.