Evidence map›Paper›PMID 33500398›Full record

ArticleHuman genome variation2021

Complex hereditary spastic paraplegia associated with episodic visual loss caused by ACO2 variants.

Takenori Tozawa, Akira Nishimura, Tamaki Ueno, Akane Shikata, Yoshihiro Taura, Takeshi Yoshida, Naoko Nakagawa, Takahito Wada, Shinji Kosugi, Tomoko Uehara and 3 more

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

Article in Human genome variation, 2021. 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
0.4field-weighted citation impact, top 42% 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. Article
  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

13 authors at 5 institutions in 1 country.

Takenori TozawaDepartment of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan. takenori@koto.kpu-m.ac.jp.
Akira NishimuraDepartment of Neonatology, Japanese Red Cross Society Kyoto Daiichi Hospital, Kyoto, Japan.
Tamaki UenoDepartment of Pediatrics, Ayabe City Hospital, Ayabe, Japan.
Akane ShikataKyoto Prefectural Maizuru Rehabilitation Center for Children, Maizuru, Japan.
Yoshihiro TauraDepartment of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Takeshi YoshidaDepartment of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan.ORCID http://orcid.org/0000-0003-0992-064X
Naoko NakagawaDepartment of Medical Ethics/Medical Genetics, Kyoto University School of Public Health, Kyoto, Japan.
Takahito WadaDepartment of Medical Ethics/Medical Genetics, Kyoto University School of Public Health, Kyoto, Japan.ORCID http://orcid.org/0000-0002-9540-1354
Shinji KosugiDepartment of Medical Ethics/Medical Genetics, Kyoto University School of Public Health, Kyoto, Japan.
Tomoko UeharaCenter for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
Toshiki TakenouchiDepartment of Pediatrics, Keio University School of Medicine, Tokyo, Japan.ORCID http://orcid.org/0000-0002-7311-4135
Kenjiro KosakiCenter for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
Tomohiro ChiyonobuDepartment of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Kyoto University · JPKeio University · JPKyoto Prefectural University of Medicine · JPJapanese Red Cross Society Kyoto Daini Hospital · JPKoshigaya Municipal Hospital · JP

Funding

Japan Agency for Medical Research and Development (AMED) JP19ek0109301
6 · The paper itself

Abstract

Most patients with homozygous or compound heterozygous pathogenic ACO2 variants present with muscular hypotonia features, namely, infantile cerebellar-retinal degeneration. Recently, two studies reported rare familial cases of ACO2 variants presenting as complex hereditary spastic paraplegia (HSP) with broad clinical spectra. Here, we report the case of a 20-year-old Japanese woman with complex HSP caused by compound heterozygous ACO2 variants, revealing a new phenotype of episodic visual loss during febrile illness.

Identifiers

PMID33500398
PMCPMC7838304
OpenAlexW3123224225

What OpenQuestion holds

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Registered trials

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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.