Journal
NEUROGENETICS
Volume 18, Issue 3, Pages 175-178Publisher
SPRINGER
DOI: 10.1007/s10048-017-0518-4
Keywords
PSEN1; Parkinsonism; Dystonia; NBIA; NGS
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Funding
- Telethon Network of Genetic Biobanks [GTB09003]
- Fondazione Pierfranco e Luisa Mariani, Milan and TIRCON project (FP7, HEALTH-F2) [277984]
- Italian Ministry of Health [GR-2009-1594645]
- German Federal Ministry of Education and Research (BMBF) [FKZ 01ZX1405C]
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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.
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