Article
Clinical and neuropathological variability in the rare IVS10 + 14 tau mutation.
Neurobiology of aging - 1 May 2021
Maxwell Selena P, Cash Meghan K, Rockwood Kenneth, Fisk John D, Darvesh Sultan
Abstract excerpt
Mutations in the microtubule-associated protein tau gene are known to cause progressive neurodegenerative disorders with variable clinical and neuropathological phenotypes, including the intronic 10 + 14 (IVS10 + 14) splice site mutation. Three families have been reported with the IVS10 + 14 microtubule-associated protein tau mutation. Here, we describe the clinical and neuropathological data from an additional...
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