Article
The MAPT p.A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features.
Neurobiology of aging - 1 Sept 2012
Kara Eleanna, Ling Helen, Pittman Alan M, Shaw Karen, de Silva Rohan, Simone Roberto, Holton Janice L, Warren Jason D, Rohrer Jonathan D, Xiromerisiou Georgia, Lees Andrew, Hardy John, Houlden Henry, Revesz Tamas
Abstract excerpt
Microtubule-associated protein tau (MAPT) mutations have been shown to underlie frontotemporal dementia and a variety of additional sporadic tauopathies. We identified a rare p.A152T variant in MAPT exon 7 in two (of eight) patients with clinical presentation of parkinsonism and postmortem finding of neurofibrillary tangle pathology. Two siblings of one patient also carried the p.A152T variant, and both have...
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