Hereditary cerebral amyloid angiopathy, Piedmont-type mutation.

Journal

Neurology. Genetics
ISSN: 2376-7839
Titre abrégé: Neurol Genet
Pays: United States
ID NLM: 101671068

Informations de publication

Date de publication:
Apr 2020
Historique:
received: 27 11 2019
accepted: 27 01 2020
entrez: 28 4 2020
pubmed: 28 4 2020
medline: 28 4 2020
Statut: epublish

Résumé

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 cerebral amyloid angiopathy (CAA). Targeted pathologic examination was performed aided by the use of ex vivo MRI. Severe CAA was observed mainly involving the leptomeningeal vessels and, to a far lesser extent, cortical vessels, with no amyloid plaques or neurofibrillary tangles. This leptomeningeal pattern of β-amyloid deposition coupled with multiple large hemorrhages demonstrates unique pathophysiologic characteristics of CAA associated with the Piedmont-type mutation, suggesting a potential association between leptomeningeal CAA and larger ICHs.

Identifiants

DOI: 10.1212/NXG.0000000000000411 PMID: 32337337 PMC: PMC7164975
pubmed: 32337337
doi: 10.1212/NXG.0000000000000411
pii: NG2019012708
pmc: PMC7164975
doi:

Types de publication

Journal Article

Langues

eng

Pagination

e411

Subventions

Organisme : NIA NIH HHS
ID : P30 AG062421
Pays : United States

Informations de copyright

Copyright © 2020 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

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Auteurs

Mariel G Kozberg (MG)

MassGeneral Institute for Neurodegenerative Disease (M.G.K., S.J.v.V.), Massachusetts General Hospital and Harvard Medical School, Charlestown; Department of Neurology (M.G.K., S.J.v.V., S.M.G.), Massachusetts General Hospital, Boston; Department of Neurology (M.G.K.), Brigham and Women's Hospital, Boston; J. Philip Kistler Stroke Research Center (S.J.v.V., S.M.G.), Massachusetts General Hospital and Harvard Medical School, Boston; and Neuropathology Service, C. S. Kubik Laboratory for Neuropathology (M.P.F), Massachusetts General Hospital and Harvard Medical School, Boston.

Susanne J van Veluw (SJ)

MassGeneral Institute for Neurodegenerative Disease (M.G.K., S.J.v.V.), Massachusetts General Hospital and Harvard Medical School, Charlestown; Department of Neurology (M.G.K., S.J.v.V., S.M.G.), Massachusetts General Hospital, Boston; Department of Neurology (M.G.K.), Brigham and Women's Hospital, Boston; J. Philip Kistler Stroke Research Center (S.J.v.V., S.M.G.), Massachusetts General Hospital and Harvard Medical School, Boston; and Neuropathology Service, C. S. Kubik Laboratory for Neuropathology (M.P.F), Massachusetts General Hospital and Harvard Medical School, Boston.

Matthew P Frosch (MP)

MassGeneral Institute for Neurodegenerative Disease (M.G.K., S.J.v.V.), Massachusetts General Hospital and Harvard Medical School, Charlestown; Department of Neurology (M.G.K., S.J.v.V., S.M.G.), Massachusetts General Hospital, Boston; Department of Neurology (M.G.K.), Brigham and Women's Hospital, Boston; J. Philip Kistler Stroke Research Center (S.J.v.V., S.M.G.), Massachusetts General Hospital and Harvard Medical School, Boston; and Neuropathology Service, C. S. Kubik Laboratory for Neuropathology (M.P.F), Massachusetts General Hospital and Harvard Medical School, Boston.

Steven M Greenberg (SM)

MassGeneral Institute for Neurodegenerative Disease (M.G.K., S.J.v.V.), Massachusetts General Hospital and Harvard Medical School, Charlestown; Department of Neurology (M.G.K., S.J.v.V., S.M.G.), Massachusetts General Hospital, Boston; Department of Neurology (M.G.K.), Brigham and Women's Hospital, Boston; J. Philip Kistler Stroke Research Center (S.J.v.V., S.M.G.), Massachusetts General Hospital and Harvard Medical School, Boston; and Neuropathology Service, C. S. Kubik Laboratory for Neuropathology (M.P.F), Massachusetts General Hospital and Harvard Medical School, Boston.

Classifications MeSH