Exome sequencing reveals a novel partial deletion in the progranulin gene causing primary progressive aphasia


In 2005, we reported a case of familial primary progressive aphasia (PPA) in this journal. 1 The individual in question had a family history of frontotemporal dementia (FTD), her brother having behavioural variant FTD shown to be due to tau-negative, ubiquitin-positive (FTLD-U) pathology at postmortem. She was followed as part of a research programme from… (More)
DOI: 10.1136/jnnp-2013-306116


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