A pathogenic progranulin mutation and C9orf72 repeat expansion in a family with frontotemporal dementia

AIMS: Frontotemporal lobar degeneration (FTLD) is a progressive neurodegenerative disease and is the second most common form of young onset dementia after Alzheimer's disease (AD). An autosomal dominant pattern of inheritance is present in around 25–50% of FTLD cases indicating a strong genetic...

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Pubblicato in:Neuropathol Appl Neurobiol
Autori principali: Lashley, Tammaryn, Rohrer, Jonathan D, Mahoney, Colin, Gordon, Elizabeth, Beck, Jon, Mead, Simon, Warren, Jason, Rossor, Martin, Revesz, Tamas
Natura: Artigo
Lingua:Inglês
Pubblicazione: BlackWell Publishing Ltd 2014
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Original Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4260146/
https://ncbi.nlm.nih.gov/pubmed/24286341
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/nan.12100
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