Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: A de novo PSEN-1 mutation.
Neurogenetics 18, 175-178 (2017)
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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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Dystonia ; Nbia ; Ngs ; Parkinsonism ; Psen1; Alzheimer-disease; Presenilin-1 Mutations; Dementia; Phenotype; Family; Gene
ISSN (print) / ISBN 1364-6745
Quellenangaben Band: 18, Heft: 3, Seiten: 175-178
Verlagsort New York
Institut(e) Institute of Human Genetics (IHG)