Article
Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation.
Neurogenetics - 1 Jul 2017
Carecchio Miryam, Picillo Marina, Valletta Lorella, Elia Antonio E, Haack Tobias B, Cozzolino Autilia, Vitale Annalisa, Garavaglia Barbara, Iuso Arcangela, Bagella Caterina F, Pappatà Sabina, Barone Paolo, Prokisch Holger, Romito Luigi, Tiranti Valeria
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.