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New, Rare Genetic Form of Dementia Discovered by Edward Lee Lab

October 01, 2020

A new, rare genetic form of dementia has been discovered by a team of Penn Medicine researchers led by Edward Lee, MD, PhD. This discovery also sheds light on a new pathway that leads to protein build up in the brain — which causes this newly discovered disease, as well as related neurodegenerative diseases like Alzheimer’s Disease — that could be targeted for new therapies. The study "autosomal dominant VCP hypomorph mutation impairs disaggregation of PHF-tau" was published today in Science.
Read more in the Penn Medicine news release
Read article "Carriers of a rare hypomorphic gene variant develop a frontotemporal dementia that features Alzheimer’s-like neurofibrillary tangles" on Alzforum news website