C9ORF72 Repeat Expansions in the Frontotemporal Dementias Spectrum of Diseases: A Flow-chart for Genetic Testing

作者: Isabelle Le Ber , Agnès Camuzat , Lena Guillot-Noel , Didier Hannequin , Lucette Lacomblez

DOI: 10.3233/JAD-121456

关键词: Frontotemporal dementiaParkinsonismPenetranceC9orf72PsychologyInternal medicinePathologyProgressive supranuclear palsyCorticobasal degenerationPrimary progressive aphasiaGenetic testing

摘要: … Frontotemporal dementia (FTD) refers to a disease spectrum … , thus enlarging the phenotype spectrum of C9ORF72. Onset … mutations; prioritization of genetic testing is thus possible. …

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