Evidence map›Paper›PMID 38421477›Full record

ArticleCerebellum (London, England)2024

Case Report: An Adult Case of Poretti-Boltshauser Syndrome Diagnosed by Medical Checkup.

Kensuke Ikeda, Ayane Tamagake, Takafumi Kubota, Rumiko Izumi, Tatsuo Yamaguchi, Kumiko Yanagi, Tatsuro Misu, Yoko Aoki, Tadashi Kaname, Masashi Aoki

Open access · hybridAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Cerebellum (London, England), 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
2.0field-weighted citation impact, top 15% 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

2 citing papers in PubMed, 4 citations in OpenAlex.

  1. Review
  2. 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

10 authors at 4 institutions in 1 country.

Kensuke IkedaDepartment of Neurology, Tohoku University Hospital, Sendai, Japan.
Ayane TamagakeDepartment of Neurology, Tohoku University Hospital, Sendai, Japan.
Takafumi KubotaDepartment of Neurology, Tohoku University Hospital, Sendai, Japan.
Rumiko IzumiDepartment of Neurology, Tohoku University Graduate School of Medicine, 1-1 Seiryo-Machi, Aoba-Ku, Sendai, 980-8574, Japan.
Tatsuo YamaguchiDepartment of Radiology Diagnostic Imaging Center, Sendai Seiryo Clinic, Sendai, Japan.
Kumiko YanagiDepartment of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan.
Tatsuro MisuDepartment of Neurology, Tohoku University Hospital, Sendai, Japan. misu@med.tohoku.ac.jp.
Yoko AokiDepartment of Medical Genetics, Tohoku University Graduate School of Medicine, Sendai, Japan.
Tadashi KanameDepartment of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan.
Masashi AokiDepartment of Neurology, Tohoku University Hospital, Sendai, Japan.
Tohoku University Hospital · JPNational Center For Child Health and Development · JPTohoku University · JPSendai Medical Center · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

This report describes an adult case of Poretti-Boltshauser syndrome (PTBHS) and with novel variants of LAMA1. A 65-year-old Japanese woman with cerebellar malformation identified during a medical checkup was referred to our hospital. Subsequently, neurological examination, brain imaging, and genetic investigation via whole-exome sequencing were performed. The patient presented with mild cerebellar ataxia and intellectual disability. Magnetic resonance imaging revealed cerebellar dysplasia and cysts and an absence of molar tooth sign. Genetic analysis revealed a novel homozygous variant of c.1711_1712del in LAMA1 (NM_005559.4). Most cases with PTBHS are reported in pediatric patients; however, our patient expressed a mild phenotype and was undiagnosed until her 60 s. These findings suggest that PTBHS should be considered in not only pediatric cerebellar dysplasia but also adult cerebellar ataxia with mild presentation.

Indexed as

LamininAgedFemaleHamartoma Syndrome, MultipleHumansMagnetic Resonance ImagingLamininCerebellar cystCerebellar dysplasiaLAMA1Poretti–boltshauser syndromeWhole-exome sequencing

Identifiers

PMID38421477
PMCPMC11489215
OpenAlexW4392292391

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.