ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2022
A heterozygous de novo PSEN1 mutation in a patient with early-onset parkinsonism.
Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 8 citations in OpenAlex.
- Case Report: Acute Psychiatric Behavioral Disturbance in a Patient with Presenilin 1 Gene Mutation Associated with Familial Alzheimer's Disease.Neurology and therapy · 2025Article
- A Novel Pathogenic PSEN1 Variant in a Patient With Dystonia-Parkinsonism Without Dementia.Journal of movement disorders · 2024Article
- Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer's Disease.International journal of molecular sciences · 2023Review
- Early-Onset Dementia-Parkinsonism with Rapid Development of Motor Fluctuations and Dyskinesia Due toMovement disorders clinical practice · 2023Article
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Authors and funding
6 authors at 2 institutions in 1 country.
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Abstract
backgroundMutations 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.
methodsWe recruited a family with one affected patient with early-onset parkinsonism. The patient underwent comprehensive neurological examination and imaging evaluation. Whole genome sequencing was performed for the proband.
resultsThe patient presented with parkinsonism and mild cognitive impairment. He had a good response to levodopa. Brain MRI evaluation showed atrophy of the bilateral frontotemporal lobe and hippocampus.
conclusionsScreening for PSEN1 variations should be considered in patients with levodopa-responsive early-onset parkinsonism.
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