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Hereditary cerebral amyloid angiopathy, Piedmont-type mutation

14 Mar 2020

Abstract excerpt

OBJECTIVE: We present here a case report of a patient with a family history of intracerebral hemorrhages (ICHs) who presented with multiple large lobar hemorrhages in rapid succession, with cognitive sparing, who was found to have a mutation in the β-amyloid coding sequence of amyloid precursor protein (Leu705Val), termed the Piedmont-type mutation, the second ever reported case of this form of hereditary...

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PMID: 32337337
DOI: 10.1212/nxg.0000000000000411

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