Evidence map›Paper›PMID 39308795›Full record

ArticleNeurology. Genetics2024

CGG/CCG Repeat Expansions in

Sunsanee Pongpakdee, Metha Apiwattanakul, Thanes Termglinchan, Rawiphan Witoonpanich, Charungthai Dejthevaporn, Theeraphong Lee, Supika Wansophonkul, Ai Yamanaka, Shunsuke Funaguma, Aritoshi Lida and 1 more

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Article in Neurology. Genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. Review
  3. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

11 authors.

Sunsanee PongpakdeeFrom the Department of Medicine (S.P.), Bhumibol Adulyadej Hospital; Department of Neurology (M.A., T.T.), Neurological Institute of Thailand; Department of Medicine (R.W., C.D.), Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok; Department of Medicine (T.L.), HRH Princess Sirindhorn Hospital, Rayong; Department of Radiology (S.W.), Bhumibol Adulyadej Hospital, Bangkok, Thailand; Department of Neuromuscular Research (A.Y., I.N.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); and Department of Clinical Genome Analysis (S.F., A.I., I.N.), Medical Genome Center, NCNP, Tokyo, Japan.
Metha ApiwattanakulFrom the Department of Medicine (S.P.), Bhumibol Adulyadej Hospital; Department of Neurology (M.A., T.T.), Neurological Institute of Thailand; Department of Medicine (R.W., C.D.), Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok; Department of Medicine (T.L.), HRH Princess Sirindhorn Hospital, Rayong; Department of Radiology (S.W.), Bhumibol Adulyadej Hospital, Bangkok, Thailand; Department of Neuromuscular Research (A.Y., I.N.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); and Department of Clinical Genome Analysis (S.F., A.I., I.N.), Medical Genome Center, NCNP, Tokyo, Japan.
Thanes TermglinchanFrom the Department of Medicine (S.P.), Bhumibol Adulyadej Hospital; Department of Neurology (M.A., T.T.), Neurological Institute of Thailand; Department of Medicine (R.W., C.D.), Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok; Department of Medicine (T.L.), HRH Princess Sirindhorn Hospital, Rayong; Department of Radiology (S.W.), Bhumibol Adulyadej Hospital, Bangkok, Thailand; Department of Neuromuscular Research (A.Y., I.N.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); and Department of Clinical Genome Analysis (S.F., A.I., I.N.), Medical Genome Center, NCNP, Tokyo, Japan.
Rawiphan WitoonpanichFrom the Department of Medicine (S.P.), Bhumibol Adulyadej Hospital; Department of Neurology (M.A., T.T.), Neurological Institute of Thailand; Department of Medicine (R.W., C.D.), Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok; Department of Medicine (T.L.), HRH Princess Sirindhorn Hospital, Rayong; Department of Radiology (S.W.), Bhumibol Adulyadej Hospital, Bangkok, Thailand; Department of Neuromuscular Research (A.Y., I.N.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); and Department of Clinical Genome Analysis (S.F., A.I., I.N.), Medical Genome Center, NCNP, Tokyo, Japan.
Charungthai DejthevapornFrom the Department of Medicine (S.P.), Bhumibol Adulyadej Hospital; Department of Neurology (M.A., T.T.), Neurological Institute of Thailand; Department of Medicine (R.W., C.D.), Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok; Department of Medicine (T.L.), HRH Princess Sirindhorn Hospital, Rayong; Department of Radiology (S.W.), Bhumibol Adulyadej Hospital, Bangkok, Thailand; Department of Neuromuscular Research (A.Y., I.N.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); and Department of Clinical Genome Analysis (S.F., A.I., I.N.), Medical Genome Center, NCNP, Tokyo, Japan.
Theeraphong LeeFrom the Department of Medicine (S.P.), Bhumibol Adulyadej Hospital; Department of Neurology (M.A., T.T.), Neurological Institute of Thailand; Department of Medicine (R.W., C.D.), Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok; Department of Medicine (T.L.), HRH Princess Sirindhorn Hospital, Rayong; Department of Radiology (S.W.), Bhumibol Adulyadej Hospital, Bangkok, Thailand; Department of Neuromuscular Research (A.Y., I.N.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); and Department of Clinical Genome Analysis (S.F., A.I., I.N.), Medical Genome Center, NCNP, Tokyo, Japan.
Supika WansophonkulFrom the Department of Medicine (S.P.), Bhumibol Adulyadej Hospital; Department of Neurology (M.A., T.T.), Neurological Institute of Thailand; Department of Medicine (R.W., C.D.), Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok; Department of Medicine (T.L.), HRH Princess Sirindhorn Hospital, Rayong; Department of Radiology (S.W.), Bhumibol Adulyadej Hospital, Bangkok, Thailand; Department of Neuromuscular Research (A.Y., I.N.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); and Department of Clinical Genome Analysis (S.F., A.I., I.N.), Medical Genome Center, NCNP, Tokyo, Japan.
Ai YamanakaFrom the Department of Medicine (S.P.), Bhumibol Adulyadej Hospital; Department of Neurology (M.A., T.T.), Neurological Institute of Thailand; Department of Medicine (R.W., C.D.), Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok; Department of Medicine (T.L.), HRH Princess Sirindhorn Hospital, Rayong; Department of Radiology (S.W.), Bhumibol Adulyadej Hospital, Bangkok, Thailand; Department of Neuromuscular Research (A.Y., I.N.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); and Department of Clinical Genome Analysis (S.F., A.I., I.N.), Medical Genome Center, NCNP, Tokyo, Japan.
Shunsuke FunagumaFrom the Department of Medicine (S.P.), Bhumibol Adulyadej Hospital; Department of Neurology (M.A., T.T.), Neurological Institute of Thailand; Department of Medicine (R.W., C.D.), Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok; Department of Medicine (T.L.), HRH Princess Sirindhorn Hospital, Rayong; Department of Radiology (S.W.), Bhumibol Adulyadej Hospital, Bangkok, Thailand; Department of Neuromuscular Research (A.Y., I.N.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); and Department of Clinical Genome Analysis (S.F., A.I., I.N.), Medical Genome Center, NCNP, Tokyo, Japan.
Aritoshi LidaFrom the Department of Medicine (S.P.), Bhumibol Adulyadej Hospital; Department of Neurology (M.A., T.T.), Neurological Institute of Thailand; Department of Medicine (R.W., C.D.), Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok; Department of Medicine (T.L.), HRH Princess Sirindhorn Hospital, Rayong; Department of Radiology (S.W.), Bhumibol Adulyadej Hospital, Bangkok, Thailand; Department of Neuromuscular Research (A.Y., I.N.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); and Department of Clinical Genome Analysis (S.F., A.I., I.N.), Medical Genome Center, NCNP, Tokyo, Japan.
Ichizo NishinoFrom the Department of Medicine (S.P.), Bhumibol Adulyadej Hospital; Department of Neurology (M.A., T.T.), Neurological Institute of Thailand; Department of Medicine (R.W., C.D.), Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok; Department of Medicine (T.L.), HRH Princess Sirindhorn Hospital, Rayong; Department of Radiology (S.W.), Bhumibol Adulyadej Hospital, Bangkok, Thailand; Department of Neuromuscular Research (A.Y., I.N.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); and Department of Clinical Genome Analysis (S.F., A.I., I.N.), Medical Genome Center, NCNP, Tokyo, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objectives: This study characterizes oculopharyngodistal myopathy in 4 Thai patients from 3 families with CGG/CCG repeat expansion in Methods: Repeat-primed PCR analyzed CGG/CCG repeat size in Results: All patients exhibited strong somatic instabilities of the expanded CGG/CCG repeats, primarily manifesting as oculopharyngeal weakness. Patient 1 had mild finger extensor and intrinsic hand muscle weakness, and although patient 2 lacked limb weakness, both siblings showed electrophysiologic evidence of distal myopathy, indicative of OPDM. Patient 3, the daughter of a sibling with OPDM reported in 2004, lacked limb weakness or leukoencephalopathy on brain MRI. Patient 4, initially misdiagnosed with refractory myasthenia gravis, had generalized muscle weakness. Discussion: While initially characterized as oculopharyngeal myopathy with leukoencephalopathy (OPML) in a Japanese family, our study suggests a stronger association between CGG/CCG expansion in

Identifiers

PMID39308795
PMCPMC11236329

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