Novel L284R MAPT Mutation in a Family with an Autosomal Dominant Progressive Supranuclear Palsy Syndrome
作者： Jonathan D. Rohrer , Dominic Paviour , Jana Vandrovcova , John Hodges , Rohan de Silva
DOI: 10.1159/000319454
关键词: Genetics 、 Mutation 、 Frontotemporal lobar degeneration 、 Psychology 、 Progressive supranuclear palsy 、 Family history 、 Tauopathy 、 Frontotemporal dementia 、 Disease 、 Parkinsonism
摘要: Background: MAPT mutations are associated with disorders within the frontotemporal lobar degeneration spectrum. The usual presenting syndrome is behavioural variant dementia, although some patients present parkinsonism. In a number of these cases dominant clinical features have been consistent progressive supranuclear palsy (PSP) syndrome. Objective: To describe family an autosomal PSP novel L284R mutation in gene. Methods: A retrospective case review and genetic analysis literature syndromes Results: Multiple members DRC292 across different generations had 1 member being found to Behavioural were also prominent most cases. only rare finding many atypical features. Conclusion: Although rare, should be considered when there history syndrome, particularly young onset
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