Evidence map›Paper›PMID 39257469›Full record

ArticleNeurology. Genetics2024

Blended Phenotype of

Satoshi Saito, Satoshi Hosoki, Eriko Yamaguchi, Hiroyuki Ishiyama, Soichiro Abe, Takeshi Yoshimoto, Tomotaka Tanaka, Yorito Hattori, Yi Chu Liao, Yi-Chung Lee and 3 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology. Genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Article
  2. Review
  3. Review
  4. 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

13 authors.

Satoshi SaitoFrom the Department of Neurology (S.S., S.H., E.Y., H.I., S.A., T.Y., T.T., Y.H., M.I.), National Cerebral and Cardiovascular Center, Suita, Japan; Department of Neurology (Y.C.L., Y.-C.L.), Taipei Veterans General Hospital, Taipei, Taiwan; and Department of Neurology (I.M., T.M.), Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.ORCID https://orcid.org/0000-0001-8608-058X
Satoshi HosokiFrom the Department of Neurology (S.S., S.H., E.Y., H.I., S.A., T.Y., T.T., Y.H., M.I.), National Cerebral and Cardiovascular Center, Suita, Japan; Department of Neurology (Y.C.L., Y.-C.L.), Taipei Veterans General Hospital, Taipei, Taiwan; and Department of Neurology (I.M., T.M.), Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.ORCID https://orcid.org/0000-0002-4241-3677
Eriko YamaguchiFrom the Department of Neurology (S.S., S.H., E.Y., H.I., S.A., T.Y., T.T., Y.H., M.I.), National Cerebral and Cardiovascular Center, Suita, Japan; Department of Neurology (Y.C.L., Y.-C.L.), Taipei Veterans General Hospital, Taipei, Taiwan; and Department of Neurology (I.M., T.M.), Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Hiroyuki IshiyamaFrom the Department of Neurology (S.S., S.H., E.Y., H.I., S.A., T.Y., T.T., Y.H., M.I.), National Cerebral and Cardiovascular Center, Suita, Japan; Department of Neurology (Y.C.L., Y.-C.L.), Taipei Veterans General Hospital, Taipei, Taiwan; and Department of Neurology (I.M., T.M.), Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.ORCID https://orcid.org/0000-0003-0071-7338
Soichiro AbeFrom the Department of Neurology (S.S., S.H., E.Y., H.I., S.A., T.Y., T.T., Y.H., M.I.), National Cerebral and Cardiovascular Center, Suita, Japan; Department of Neurology (Y.C.L., Y.-C.L.), Taipei Veterans General Hospital, Taipei, Taiwan; and Department of Neurology (I.M., T.M.), Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.ORCID https://orcid.org/0000-0001-9528-8702
Takeshi YoshimotoFrom the Department of Neurology (S.S., S.H., E.Y., H.I., S.A., T.Y., T.T., Y.H., M.I.), National Cerebral and Cardiovascular Center, Suita, Japan; Department of Neurology (Y.C.L., Y.-C.L.), Taipei Veterans General Hospital, Taipei, Taiwan; and Department of Neurology (I.M., T.M.), Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.ORCID https://orcid.org/0000-0003-3178-8171
Tomotaka TanakaFrom the Department of Neurology (S.S., S.H., E.Y., H.I., S.A., T.Y., T.T., Y.H., M.I.), National Cerebral and Cardiovascular Center, Suita, Japan; Department of Neurology (Y.C.L., Y.-C.L.), Taipei Veterans General Hospital, Taipei, Taiwan; and Department of Neurology (I.M., T.M.), Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.ORCID https://orcid.org/0000-0002-6023-236X
Yorito HattoriFrom the Department of Neurology (S.S., S.H., E.Y., H.I., S.A., T.Y., T.T., Y.H., M.I.), National Cerebral and Cardiovascular Center, Suita, Japan; Department of Neurology (Y.C.L., Y.-C.L.), Taipei Veterans General Hospital, Taipei, Taiwan; and Department of Neurology (I.M., T.M.), Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.ORCID https://orcid.org/0000-0002-1495-4433
Yi Chu LiaoFrom the Department of Neurology (S.S., S.H., E.Y., H.I., S.A., T.Y., T.T., Y.H., M.I.), National Cerebral and Cardiovascular Center, Suita, Japan; Department of Neurology (Y.C.L., Y.-C.L.), Taipei Veterans General Hospital, Taipei, Taiwan; and Department of Neurology (I.M., T.M.), Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Yi-Chung LeeFrom the Department of Neurology (S.S., S.H., E.Y., H.I., S.A., T.Y., T.T., Y.H., M.I.), National Cerebral and Cardiovascular Center, Suita, Japan; Department of Neurology (Y.C.L., Y.-C.L.), Taipei Veterans General Hospital, Taipei, Taiwan; and Department of Neurology (I.M., T.M.), Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.ORCID https://orcid.org/0000-0003-0102-164X
Ikuko MizutaFrom the Department of Neurology (S.S., S.H., E.Y., H.I., S.A., T.Y., T.T., Y.H., M.I.), National Cerebral and Cardiovascular Center, Suita, Japan; Department of Neurology (Y.C.L., Y.-C.L.), Taipei Veterans General Hospital, Taipei, Taiwan; and Department of Neurology (I.M., T.M.), Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Toshiki MizunoFrom the Department of Neurology (S.S., S.H., E.Y., H.I., S.A., T.Y., T.T., Y.H., M.I.), National Cerebral and Cardiovascular Center, Suita, Japan; Department of Neurology (Y.C.L., Y.-C.L.), Taipei Veterans General Hospital, Taipei, Taiwan; and Department of Neurology (I.M., T.M.), Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Masafumi IharaFrom the Department of Neurology (S.S., S.H., E.Y., H.I., S.A., T.Y., T.T., Y.H., M.I.), National Cerebral and Cardiovascular Center, Suita, Japan; Department of Neurology (Y.C.L., Y.-C.L.), Taipei Veterans General Hospital, Taipei, Taiwan; and Department of Neurology (I.M., T.M.), Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.ORCID https://orcid.org/0000-0002-7102-4048

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objectives: Recent advancements in genome research have revealed not only the importance of variants associated with cerebrovascular diseases but also a notably high frequency of carriers harboring multiple variants, presenting with an elusive blended phenotype. In this study, we report the case of a 66-year-old man who experienced 3 stroke episodes over a 4-year period, starting at the age of 62 years. The patient presented with isolated infarcts in the left temporal pole with progressive stenosis in the ipsilateral middle cerebral artery based on large and small artery crosstalk. Methods: Exons 2-24 of the Results: Diagnoses of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy and Discussion: Temporal pole infarcts could represent a blended phenotype of both variants. This case highlights the importance of large and small artery crosstalk and the pivotal role of genetic analysis in determining the pathogenesis of stroke and dementia.

Identifiers

PMID39257469
PMCPMC11384340

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