Abstract
Mutations in PSEN1 are responsible for familial Alzheimer’s disease (FAD) inherited as autosomal dominant trait, but also de novo mutations have been rarely reported in sporadic early-onset dementia cases. Parkinsonism in FAD has been mainly described in advanced disease stages. We characterized a patient presenting with early-onset dystonia-parkinsonism later complicated by dementia and myoclonus. Brain MRI showed signs of iron accumulation in the basal ganglia mimicking neurodegeneration with brain iron accumulation (NBIA) as well as fronto-temporal atrophy. Whole exome sequencing revealed a novel PSEN1 mutation and segregation within the family demonstrated the mutation arose de novo. We suggest considering PSEN1 mutations in cases of dystonia-parkinsonism with positive DAT-Scan, later complicated by progressive cognitive decline and cortical myoclonus even without a dominant family history.
Original language | English |
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Pages (from-to) | 175-178 |
Number of pages | 4 |
Journal | Neurogenetics |
Volume | 18 |
Issue number | 3 |
DOIs | |
Publication status | Published - Jul 1 2017 |
Keywords
- Dystonia
- NBIA
- NGS
- Parkinsonism
- PSEN1
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
- Cellular and Molecular Neuroscience