Evidence map›Paper›PMID 39024526›Full record

ArticleNeurology(R) neuroimmunology & neuroinflammation2024

Young-Onset Alzheimer Dementia Due to a Novel Pathogenic

Nathalia Rossoni Ronchi, Matheus A Castro, Artur M Coutinho, Leandro T Lucato, Guilherme Diogo Silva, Sonia M Brucki, Fernando Kok, Eduardo Sturzeneker Trés, Paulo Ribeiro Nóbrega, Fernando Freua and 2 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology(R) neuroimmunology & neuroinflammation, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
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

2 citing papers in PubMed.

  1. Article
  2. Review
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

12 authors.

Nathalia Rossoni RonchiFrom the Department of Neurology (N.R.R.), Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto; Division of Neurology (M.A.C., G.D.S., S.M.B., F.K., E.S.T., F.F., R.N., M.M.S.); Laboratory of Nuclear Medicine (LIM43) (A.M.C.); Neuroradiology Section (L.T.L.), Hospital das Clínicas (HCFMUSP), Faculdade de Medicina, Universidade de São Paulo; Grupo Fleury (L.T.L.); Instituto do Câncer do Estado de São Paulo (G.D.S.); Department of Neurology (P.R.N.), Universidade Federal do Ceará; Centro Universitário Christus (P.R.N.), Ceará; and Instituto do Câncer do Estado de São Paulo (M.M.S.), Brazil.ORCID 0000-0002-3367-1949
Matheus A CastroFrom the Department of Neurology (N.R.R.), Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto; Division of Neurology (M.A.C., G.D.S., S.M.B., F.K., E.S.T., F.F., R.N., M.M.S.); Laboratory of Nuclear Medicine (LIM43) (A.M.C.); Neuroradiology Section (L.T.L.), Hospital das Clínicas (HCFMUSP), Faculdade de Medicina, Universidade de São Paulo; Grupo Fleury (L.T.L.); Instituto do Câncer do Estado de São Paulo (G.D.S.); Department of Neurology (P.R.N.), Universidade Federal do Ceará; Centro Universitário Christus (P.R.N.), Ceará; and Instituto do Câncer do Estado de São Paulo (M.M.S.), Brazil.
Artur M CoutinhoFrom the Department of Neurology (N.R.R.), Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto; Division of Neurology (M.A.C., G.D.S., S.M.B., F.K., E.S.T., F.F., R.N., M.M.S.); Laboratory of Nuclear Medicine (LIM43) (A.M.C.); Neuroradiology Section (L.T.L.), Hospital das Clínicas (HCFMUSP), Faculdade de Medicina, Universidade de São Paulo; Grupo Fleury (L.T.L.); Instituto do Câncer do Estado de São Paulo (G.D.S.); Department of Neurology (P.R.N.), Universidade Federal do Ceará; Centro Universitário Christus (P.R.N.), Ceará; and Instituto do Câncer do Estado de São Paulo (M.M.S.), Brazil.
Leandro T LucatoFrom the Department of Neurology (N.R.R.), Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto; Division of Neurology (M.A.C., G.D.S., S.M.B., F.K., E.S.T., F.F., R.N., M.M.S.); Laboratory of Nuclear Medicine (LIM43) (A.M.C.); Neuroradiology Section (L.T.L.), Hospital das Clínicas (HCFMUSP), Faculdade de Medicina, Universidade de São Paulo; Grupo Fleury (L.T.L.); Instituto do Câncer do Estado de São Paulo (G.D.S.); Department of Neurology (P.R.N.), Universidade Federal do Ceará; Centro Universitário Christus (P.R.N.), Ceará; and Instituto do Câncer do Estado de São Paulo (M.M.S.), Brazil.ORCID 0000-0001-9181-5245
Guilherme Diogo SilvaFrom the Department of Neurology (N.R.R.), Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto; Division of Neurology (M.A.C., G.D.S., S.M.B., F.K., E.S.T., F.F., R.N., M.M.S.); Laboratory of Nuclear Medicine (LIM43) (A.M.C.); Neuroradiology Section (L.T.L.), Hospital das Clínicas (HCFMUSP), Faculdade de Medicina, Universidade de São Paulo; Grupo Fleury (L.T.L.); Instituto do Câncer do Estado de São Paulo (G.D.S.); Department of Neurology (P.R.N.), Universidade Federal do Ceará; Centro Universitário Christus (P.R.N.), Ceará; and Instituto do Câncer do Estado de São Paulo (M.M.S.), Brazil.ORCID 0000-0001-9764-3763
Sonia M BruckiFrom the Department of Neurology (N.R.R.), Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto; Division of Neurology (M.A.C., G.D.S., S.M.B., F.K., E.S.T., F.F., R.N., M.M.S.); Laboratory of Nuclear Medicine (LIM43) (A.M.C.); Neuroradiology Section (L.T.L.), Hospital das Clínicas (HCFMUSP), Faculdade de Medicina, Universidade de São Paulo; Grupo Fleury (L.T.L.); Instituto do Câncer do Estado de São Paulo (G.D.S.); Department of Neurology (P.R.N.), Universidade Federal do Ceará; Centro Universitário Christus (P.R.N.), Ceará; and Instituto do Câncer do Estado de São Paulo (M.M.S.), Brazil.ORCID 0000-0002-8303-6732
Fernando KokFrom the Department of Neurology (N.R.R.), Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto; Division of Neurology (M.A.C., G.D.S., S.M.B., F.K., E.S.T., F.F., R.N., M.M.S.); Laboratory of Nuclear Medicine (LIM43) (A.M.C.); Neuroradiology Section (L.T.L.), Hospital das Clínicas (HCFMUSP), Faculdade de Medicina, Universidade de São Paulo; Grupo Fleury (L.T.L.); Instituto do Câncer do Estado de São Paulo (G.D.S.); Department of Neurology (P.R.N.), Universidade Federal do Ceará; Centro Universitário Christus (P.R.N.), Ceará; and Instituto do Câncer do Estado de São Paulo (M.M.S.), Brazil.
Eduardo Sturzeneker TrésFrom the Department of Neurology (N.R.R.), Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto; Division of Neurology (M.A.C., G.D.S., S.M.B., F.K., E.S.T., F.F., R.N., M.M.S.); Laboratory of Nuclear Medicine (LIM43) (A.M.C.); Neuroradiology Section (L.T.L.), Hospital das Clínicas (HCFMUSP), Faculdade de Medicina, Universidade de São Paulo; Grupo Fleury (L.T.L.); Instituto do Câncer do Estado de São Paulo (G.D.S.); Department of Neurology (P.R.N.), Universidade Federal do Ceará; Centro Universitário Christus (P.R.N.), Ceará; and Instituto do Câncer do Estado de São Paulo (M.M.S.), Brazil.
Paulo Ribeiro NóbregaFrom the Department of Neurology (N.R.R.), Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto; Division of Neurology (M.A.C., G.D.S., S.M.B., F.K., E.S.T., F.F., R.N., M.M.S.); Laboratory of Nuclear Medicine (LIM43) (A.M.C.); Neuroradiology Section (L.T.L.), Hospital das Clínicas (HCFMUSP), Faculdade de Medicina, Universidade de São Paulo; Grupo Fleury (L.T.L.); Instituto do Câncer do Estado de São Paulo (G.D.S.); Department of Neurology (P.R.N.), Universidade Federal do Ceará; Centro Universitário Christus (P.R.N.), Ceará; and Instituto do Câncer do Estado de São Paulo (M.M.S.), Brazil.ORCID 0000-0002-0021-9358
Fernando FreuaFrom the Department of Neurology (N.R.R.), Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto; Division of Neurology (M.A.C., G.D.S., S.M.B., F.K., E.S.T., F.F., R.N., M.M.S.); Laboratory of Nuclear Medicine (LIM43) (A.M.C.); Neuroradiology Section (L.T.L.), Hospital das Clínicas (HCFMUSP), Faculdade de Medicina, Universidade de São Paulo; Grupo Fleury (L.T.L.); Instituto do Câncer do Estado de São Paulo (G.D.S.); Department of Neurology (P.R.N.), Universidade Federal do Ceará; Centro Universitário Christus (P.R.N.), Ceará; and Instituto do Câncer do Estado de São Paulo (M.M.S.), Brazil.ORCID 0000-0001-9378-2539
Ricardo NitriniFrom the Department of Neurology (N.R.R.), Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto; Division of Neurology (M.A.C., G.D.S., S.M.B., F.K., E.S.T., F.F., R.N., M.M.S.); Laboratory of Nuclear Medicine (LIM43) (A.M.C.); Neuroradiology Section (L.T.L.), Hospital das Clínicas (HCFMUSP), Faculdade de Medicina, Universidade de São Paulo; Grupo Fleury (L.T.L.); Instituto do Câncer do Estado de São Paulo (G.D.S.); Department of Neurology (P.R.N.), Universidade Federal do Ceará; Centro Universitário Christus (P.R.N.), Ceará; and Instituto do Câncer do Estado de São Paulo (M.M.S.), Brazil.ORCID 0000-0002-5721-1525
Mateus Mistieri SimabukuroFrom the Department of Neurology (N.R.R.), Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto; Division of Neurology (M.A.C., G.D.S., S.M.B., F.K., E.S.T., F.F., R.N., M.M.S.); Laboratory of Nuclear Medicine (LIM43) (A.M.C.); Neuroradiology Section (L.T.L.), Hospital das Clínicas (HCFMUSP), Faculdade de Medicina, Universidade de São Paulo; Grupo Fleury (L.T.L.); Instituto do Câncer do Estado de São Paulo (G.D.S.); Department of Neurology (P.R.N.), Universidade Federal do Ceará; Centro Universitário Christus (P.R.N.), Ceará; and Instituto do Câncer do Estado de São Paulo (M.M.S.), Brazil.ORCID 0000-0001-9243-3337

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectivesPathogenic variants in presenilin 1

methodsWe describe a case of a young patient with insidious progressive dementia, myoclonus, seizures, and aphasia, with no family history of dementia, along with signs suggestive of neuroinflammation on brain MRI and CSF examination.

resultsShe was initially misdiagnosed as having AE. Further investigation was performed, leading to the discovery of a novel and de novo pathogenic variant in PSEN1. DISCUSSION: This case demonstrates the importance of considering PSEN1 in young patients with insidious progressive dementia with atypical clinical and neuroimaging features, even in patients without a family history of neurologic disorders. Not adhering to published criteria of possible and probable AE and overinterpretation of subtle inflammatory findings in CSF and MRI contribute to misdiagnosis.

Indexed as

Alzheimer DiseaseDiagnostic ErrorsEncephalitisPresenilin-1AdultAge of OnsetFemaleHashimoto DiseaseHumansPresenilin-1PSEN1 protein, human

Identifiers

PMID39024526
PMCPMC11271388

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