Evidence map›Paper›PMID 37264311›Full record

ArticleBMC neurology2023

Parkinsonism in spinocerebellar ataxia with axonal neuropathy caused by adult-onset COA7 variants: a case report.

Shogo Ouchi, Kazuhiro Ishii, Kenjiro Kosaki, Hisato Suzuki, Mamiko Yamada, Toshiki Takenouchi, Akira Tamaoka

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

Article in BMC neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.1field-weighted citation impact, top 55% 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

3 citing papers in PubMed, 1 citations in OpenAlex.

  1. Genetic and environmental risk factors of Parkinsonism.Journal of neural transmission (Vienna, Austria : 1996) · 2026
    Review
  2. Compound HeterozygousNeurology. Genetics · 2026
    Article
  3. 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

7 authors at 2 institutions in 1 country.

Shogo Ouchi *Department of Neurology, Division of Clinical Medicine, Faculty of Medicine, University of Tsukuba, Ten'nudai 1-1-1, Tsukuba, Ibaraki, 305-8575, Japan.
Kazuhiro Ishii *Department of Neurology, Division of Clinical Medicine, Faculty of Medicine, University of Tsukuba, Ten'nudai 1-1-1, Tsukuba, Ibaraki, 305-8575, Japan. kazishii@md.tsukuba.ac.jp.ORCID http://orcid.org/0000-0003-2059-4670
Kenjiro KosakiCenter for Medical Genetics, Keio University, 35 Shinanomachi Shinju-Ku, Tokyo, 160-8582, Japan.
Hisato SuzukiCenter for Medical Genetics, Keio University, 35 Shinanomachi Shinju-Ku, Tokyo, 160-8582, Japan.
Mamiko YamadaCenter for Medical Genetics, Keio University, 35 Shinanomachi Shinju-Ku, Tokyo, 160-8582, Japan.
Toshiki TakenouchiCenter for Medical Genetics, Keio University, 35 Shinanomachi Shinju-Ku, Tokyo, 160-8582, Japan.
Akira TamaokaDepartment of Neurology, Division of Clinical Medicine, Faculty of Medicine, University of Tsukuba, Ten'nudai 1-1-1, Tsukuba, Ibaraki, 305-8575, Japan.
Keio University Hospital · JPUniversity of Tsukuba · JP

Funding

Japan Agency for Medical Research and Development JP18ek0109301
6 · The paper itself

Abstract

backgroundIndividuals with variants of cytochrome c oxidase assembly factor 7 (COA7), a mitochondrial functional-related gene, exhibit symptoms of spinocerebellar ataxia with axonal neuropathy before the age of 20. However, COA7 variants with parkinsonism or adult-onset type cases have not been described. CASE PRESENTATION: We report the case of a patient who developed cerebellar symptoms and slowly progressive sensory and motor neuropathy in the extremities, similar to Charcot-Marie-Tooth disease, at age 30, followed by parkinsonism at age 58. Exome analysis revealed COA7 missense mutation in homozygotes (NM_023077.2:c.17A > G, NP_075565.2: p.Asp6Gly). Dopamine transporter single-photon emission computed tomography using a

conclusionsCOA7 gene variants may have caused parkinsonism in this case because mitochondrial function-related genes, such as parkin and PINK1, are known causative genes in some familial Parkinson's diseases.

Indexed as

Charcot-Marie-Tooth DiseaseParkinsonian DisordersSpinocerebellar AtaxiasAdultHumansIodine RadioisotopesMiddle AgedMutationIodine-123Iodine RadioisotopesCharcot-Marie-Tooth diseaseCOA7ParkinsonismSpinocerebellar ataxia

Identifiers

PMID37264311
PMCPMC10234071
OpenAlexW4378983607

What OpenQuestion holds

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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.