The GGGGCC Repeat Expansion in C9ORF72 in a Case with Discordant Clinical and FDG-PET Findings: PET Trumps Syndrome

A hexanucleotide repeat expansion in the chromosome 9 open reading frame 72 (C9ORF72) gene was recently discovered as the cause underlying frontotemporal degeneration (FTD) and/or amyotrophic lateral sclerosis (ALS) linked to chromosome 9 (c9FTD/ALS). In this atypical case of c9FTD/ALS, the proband...

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Autors principals: Adeli, Anahita, Savica, Rodolfo, Lowe, Val J., Vemuri, Prashanthi, Knopman, David S., DeJesus-Hernandez, Mariely, Rademakers, Rosa, Fields, Julie A., Crum, Brian A., Jack, Clifford R., Petersen, Ronald C., Boeve, Bradley F.
Format: Artigo
Idioma:Inglês
Publicat: 2012
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3593970/
https://ncbi.nlm.nih.gov/pubmed/23199140
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/13554794.2012.732090
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