Evidence map›Paper›PMID 32337337›Full record

ArticleNeurology. Genetics2020

Hereditary cerebral amyloid angiopathy, Piedmont-type mutation.

Mariel G Kozberg, Susanne J van Veluw, Matthew P Frosch, Steven M Greenberg

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology. Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
0.7field-weighted citation impact, top 25% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

7 citing papers in PubMed, 21 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Review
  5. Main features of hereditary cerebral amyloid angiopathies: A systematic review.Cerebral circulation - cognition and behavior · 2022
    Article
  6. A practical approach to the management of cerebral amyloid angiopathy.International journal of stroke : official journal of the International Stroke Society · 2021
    Review
  7. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors at 2 institutions in 1 country.

Mariel G KozbergMassGeneral 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 VeluwMassGeneral 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 FroschMassGeneral 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 GreenbergMassGeneral 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.
Harvard University · USMassachusetts General Hospital · US

Funding

Research Education ComponentP30AG062421 · NIA · MASSACHUSETTS GENERAL HOSPITAL · PI Christine S Ritchie · 2019 to 2026
$36.5M
NIA NIH HHS P30 AG062421
6 · The paper itself

Abstract

objectiveWe 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).

methodsTargeted pathologic examination was performed aided by the use of ex vivo MRI.

resultsSevere CAA was observed mainly involving the leptomeningeal vessels and, to a far lesser extent, cortical vessels, with no amyloid plaques or neurofibrillary tangles.

conclusionsThis 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.

Identifiers

PMID32337337
PMCPMC7164975
OpenAlexW3011027222

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.