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Carecchio, M.* ; Picillo, M.* ; Valletta, L.* ; Elia, A.E.* ; Haack, T.B. ; Cozzolino, A.* ; Vitale, A.* ; Garavaglia, B.* ; Iuso, A. ; Bagella, C.F.* ; Pappatà, S.* ; Barone, P.* ; Prokisch, H. ; Romito, L.* ; Tiranti, V.*

Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: A de novo PSEN-1 mutation.

Neurogenetics 18, 175-178 (2017)
DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
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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Publication type Article: Journal article
Document type Scientific Article
Corresponding Author
Keywords Dystonia ; Nbia ; Ngs ; Parkinsonism ; Psen1; Alzheimer-disease; Presenilin-1 Mutations; Dementia; Phenotype; Family; Gene
ISSN (print) / ISBN 1364-6745
e-ISSN 1364-6753
Journal Neurogenetics
Quellenangaben Volume: 18, Issue: 3, Pages: 175-178 Article Number: , Supplement: ,
Publisher Springer
Publishing Place New York
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Human Genetics (IHG)