A heterozygous de novo PSEN1 mutation in a patient with early-onset parkinsonism.
Neurol Sci
; 43(2): 1405-1409, 2022 Feb.
Article
em En
| MEDLINE
| ID: mdl-34843019
ABSTRACT
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 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.RESULTS:
The 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. 18F-fluorodeoxyglucose-positron emission tomography (PET) and 11C-2ß-carbomethoxy-3ß-(4-fluorophenyl) tropane-PET showed decreased metabolism and dopamine transporter distribution in the bilateral putamen and caudate nucleus. 11C-Pittsburgh compound B -PET showed ß-amyloid protein deposition. Genetic analysis identified a heterozygous de novo variant in PSEN1 (c.697A > G, p.M233V).CONCLUSIONS:
Screening for PSEN1 variations should be considered in patients with levodopa-responsive early-onset parkinsonism.Palavras-chave
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Base de dados:
MEDLINE
Assunto principal:
Transtornos Parkinsonianos
/
Doença de Alzheimer
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article