MAPT p.V363I mutation: A rare cause of corticobasal degeneration.
Sarah AhmedMonica Diez FairenMarya S SabirPau PastorJinhui DingLourdes IspiertoAnkur ButalaChristopher M MorrisClaudia SchulteThomas GasserEdwin JabbariOlga PletnikovaHuw R MorrisJuan TroncosoEllen GelpiAlexander PantelyatSonja W ScholzPublished in: Neurology. Genetics (2019)
We report 2 CBS cases carrying the rare p.V363I MAPT mutation, one of which was pathologically confirmed as CBD. Our findings support the notion that this rare coding change is pathogenic.
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