In one paragraphArticle in Neurology. Genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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 registryThe 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 literatureWho cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
4 · The recordCorrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
5 · Who and what moneyAuthors and funding
8 authors.
Shotaro HajiFrom the Department of Neurology (S.H., R.M., Y.O., Y.I.), Tokushima University Graduate School of Biomedical Sciences; Department of Clinical Neuroscience and Therapeutics (H.M.), Graduate School of Biomedical and Health Sciences; Department of Hematology (S.T., M.A.), Endocrinology and Metabolism, Tokushima University Graduate School of Biomedical Sciences; Department of Neuromuscular Research (I.N.), National Institute of Neuroscience, National Centre of Neurology and Psychiatry; and Department of Clinical Genome Analysis (I.N.), Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan.ORCID https://orcid.org/0000-0003-4768-0317 Ryosuke MiyamotoFrom the Department of Neurology (S.H., R.M., Y.O., Y.I.), Tokushima University Graduate School of Biomedical Sciences; Department of Clinical Neuroscience and Therapeutics (H.M.), Graduate School of Biomedical and Health Sciences; Department of Hematology (S.T., M.A.), Endocrinology and Metabolism, Tokushima University Graduate School of Biomedical Sciences; Department of Neuromuscular Research (I.N.), National Institute of Neuroscience, National Centre of Neurology and Psychiatry; and Department of Clinical Genome Analysis (I.N.), Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan.ORCID https://orcid.org/0000-0003-3639-6484 Hiroyuki MorinoFrom the Department of Neurology (S.H., R.M., Y.O., Y.I.), Tokushima University Graduate School of Biomedical Sciences; Department of Clinical Neuroscience and Therapeutics (H.M.), Graduate School of Biomedical and Health Sciences; Department of Hematology (S.T., M.A.), Endocrinology and Metabolism, Tokushima University Graduate School of Biomedical Sciences; Department of Neuromuscular Research (I.N.), National Institute of Neuroscience, National Centre of Neurology and Psychiatry; and Department of Clinical Genome Analysis (I.N.), Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan.ORCID https://orcid.org/0000-0002-5190-3547 Yusuke OsakiFrom the Department of Neurology (S.H., R.M., Y.O., Y.I.), Tokushima University Graduate School of Biomedical Sciences; Department of Clinical Neuroscience and Therapeutics (H.M.), Graduate School of Biomedical and Health Sciences; Department of Hematology (S.T., M.A.), Endocrinology and Metabolism, Tokushima University Graduate School of Biomedical Sciences; Department of Neuromuscular Research (I.N.), National Institute of Neuroscience, National Centre of Neurology and Psychiatry; and Department of Clinical Genome Analysis (I.N.), Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan.ORCID https://orcid.org/0000-0001-6588-5442 Seijiro TsujiFrom the Department of Neurology (S.H., R.M., Y.O., Y.I.), Tokushima University Graduate School of Biomedical Sciences; Department of Clinical Neuroscience and Therapeutics (H.M.), Graduate School of Biomedical and Health Sciences; Department of Hematology (S.T., M.A.), Endocrinology and Metabolism, Tokushima University Graduate School of Biomedical Sciences; Department of Neuromuscular Research (I.N.), National Institute of Neuroscience, National Centre of Neurology and Psychiatry; and Department of Clinical Genome Analysis (I.N.), Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan.
Ichizo NishinoFrom the Department of Neurology (S.H., R.M., Y.O., Y.I.), Tokushima University Graduate School of Biomedical Sciences; Department of Clinical Neuroscience and Therapeutics (H.M.), Graduate School of Biomedical and Health Sciences; Department of Hematology (S.T., M.A.), Endocrinology and Metabolism, Tokushima University Graduate School of Biomedical Sciences; Department of Neuromuscular Research (I.N.), National Institute of Neuroscience, National Centre of Neurology and Psychiatry; and Department of Clinical Genome Analysis (I.N.), Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan.ORCID https://orcid.org/0000-0001-9452-112X Masahiro AbeFrom the Department of Neurology (S.H., R.M., Y.O., Y.I.), Tokushima University Graduate School of Biomedical Sciences; Department of Clinical Neuroscience and Therapeutics (H.M.), Graduate School of Biomedical and Health Sciences; Department of Hematology (S.T., M.A.), Endocrinology and Metabolism, Tokushima University Graduate School of Biomedical Sciences; Department of Neuromuscular Research (I.N.), National Institute of Neuroscience, National Centre of Neurology and Psychiatry; and Department of Clinical Genome Analysis (I.N.), Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan.ORCID https://orcid.org/0000-0002-9317-7133 Yuishin IzumiFrom the Department of Neurology (S.H., R.M., Y.O., Y.I.), Tokushima University Graduate School of Biomedical Sciences; Department of Clinical Neuroscience and Therapeutics (H.M.), Graduate School of Biomedical and Health Sciences; Department of Hematology (S.T., M.A.), Endocrinology and Metabolism, Tokushima University Graduate School of Biomedical Sciences; Department of Neuromuscular Research (I.N.), National Institute of Neuroscience, National Centre of Neurology and Psychiatry; and Department of Clinical Genome Analysis (I.N.), Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan.ORCID https://orcid.org/0000-0002-3048-9041 Funding
No grant is acknowledged in the PubMed record.
6 · The paper itselfAbstract
Objective: Autosomal recessive spinocerebellar ataxia type 9 (SCAR9) has received attention due to its potential response to coenzyme Q10 (CoQ10) supplementation; however, the response has so far been limited and variable. Methods: We report a SCAR9 patient with severe hypophosphatemia who responded well to CoQ10 and phosphate repletion. Results: A 70-year-old man (the offspring of a consanguineous marriage) presented with cerebellar ataxia and intense fatigue after exercise. Whole-exome sequencing identified a novel homozygous deletion mutation (NM_020247.5:c.1218_1219del) in Discussion: Phosphate repletion should be considered for patients with severe hypophosphatemia without any apparent subjective symptoms. In this case, phosphate repletion could have improved myopathy leading to partial improvement in the patient's symptoms. Further analyses regarding the association between COQ8A mutation and phosphate wasting are required to elucidate the detailed pathogenesis. Classification of Evidence: This provides Class IV evidence. This is a single observational study without controls.
Identifiers
PMID37529414
PMCPMC10389171
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