Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia

An expanded hexanucleotide repeat in the C9orf72 gene is the most common genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis (c9FTD/ALS). We now report the first description of a homozygous patient and compare it to a series of heterozygous cases. The patient developed early-o...

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Detalles Bibliográficos
Autores principales: Fratta, Pietro, Poulter, Mark, Lashley, Tammaryn, Rohrer, Jonathan D., Polke, James M., Beck, Jon, Ryan, Natalie, Hensman, Davina, Mizielinska, Sarah, Waite, Adrian J., Lai, Mang-Ching, Gendron, Tania F., Petrucelli, Leonard, Fisher, Elizabeth M. C., Revesz, Tamas, Warren, Jason D., Collinge, John, Isaacs, Adrian M., Mead, Simon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2013
Materias:
Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3753468/
https://www.ncbi.nlm.nih.gov/pubmed/23818065
http://dx.doi.org/10.1007/s00401-013-1147-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3753468/
https://www.ncbi.nlm.nih.gov/pubmed/23818065
http://dx.doi.org/10.1007/s00401-013-1147-0

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