Evidence map›Paper›PMID 38854973›Full record

ArticleNeurology. Genetics2024

Late-Onset Ataxia-Telangiectasia Presenting With Dystonia and Tremor: The Use of Nanopore Long-Read Sequencing Solving the Variant Phase.

Bora Jin, Jihoon G Yoon, Aryun Kim, Jangsup Moon, Han-Joon Kim

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PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology. Genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

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0cells of the map it votes in
4citing 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

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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

4 citing papers in PubMed.

  1. Article
  2. Exploration of Neurodegenerative Diseases Using Long-Read Sequencing and Optical Genome Mapping Technologies.Movement disorders : official journal of the Movement Disorder Society · 2025
    Review
  3. Article
  4. 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

5 authors.

Bora JinFrom the Department of Neurology (B.J., J.M., H.-J.K.), Seoul National University Hospital and Seoul National University College of Medicine; Department of Genomic Medicine (J.G.Y., J.M.), Seoul National University Hospital; Department of Laboratory Medicine (J.G.Y), Gangnam Severance Hospital and Yonsei University College of Medicine; and Department of Neurology (A.K.), Chungbuk National University Hospital and Chungbuk National University College of Medicine, Cheongju-si, Republic of Korea.
Jihoon G YoonFrom the Department of Neurology (B.J., J.M., H.-J.K.), Seoul National University Hospital and Seoul National University College of Medicine; Department of Genomic Medicine (J.G.Y., J.M.), Seoul National University Hospital; Department of Laboratory Medicine (J.G.Y), Gangnam Severance Hospital and Yonsei University College of Medicine; and Department of Neurology (A.K.), Chungbuk National University Hospital and Chungbuk National University College of Medicine, Cheongju-si, Republic of Korea.ORCID https://orcid.org/0000-0002-4401-7803
Aryun KimFrom the Department of Neurology (B.J., J.M., H.-J.K.), Seoul National University Hospital and Seoul National University College of Medicine; Department of Genomic Medicine (J.G.Y., J.M.), Seoul National University Hospital; Department of Laboratory Medicine (J.G.Y), Gangnam Severance Hospital and Yonsei University College of Medicine; and Department of Neurology (A.K.), Chungbuk National University Hospital and Chungbuk National University College of Medicine, Cheongju-si, Republic of Korea.ORCID https://orcid.org/0000-0002-1071-7799
Jangsup MoonFrom the Department of Neurology (B.J., J.M., H.-J.K.), Seoul National University Hospital and Seoul National University College of Medicine; Department of Genomic Medicine (J.G.Y., J.M.), Seoul National University Hospital; Department of Laboratory Medicine (J.G.Y), Gangnam Severance Hospital and Yonsei University College of Medicine; and Department of Neurology (A.K.), Chungbuk National University Hospital and Chungbuk National University College of Medicine, Cheongju-si, Republic of Korea.ORCID https://orcid.org/0000-0003-1282-4528
Han-Joon KimFrom the Department of Neurology (B.J., J.M., H.-J.K.), Seoul National University Hospital and Seoul National University College of Medicine; Department of Genomic Medicine (J.G.Y., J.M.), Seoul National University Hospital; Department of Laboratory Medicine (J.G.Y), Gangnam Severance Hospital and Yonsei University College of Medicine; and Department of Neurology (A.K.), Chungbuk National University Hospital and Chungbuk National University College of Medicine, Cheongju-si, Republic of Korea.ORCID https://orcid.org/0000-0001-8219-9663

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objectives: This study investigates atypical late-onset ataxia-telangiectasia (AT) cases in a Korean family, diagnosed via Nanopore long-read sequencing, diverging from the typical early childhood onset caused by biallelic pathogenic ATM variants. Methods: A 52-year-old Korean woman exhibiting dystonia and tremor, with a family history of similar symptoms in her older sister, underwent comprehensive tests including routine laboratory tests, neuropsychological assessments, and neuroimaging. Genetic analysis was conducted through targeted sequencing of 29 dystonia-associated genes and Nanopore long-read sequencing to assess the configuration of 2 Results: Routine blood tests and brain imaging studies returned normal results, except for elevated α-fetoprotein levels. Neurologic examination revealed dystonia in the face, hand, and trunk, along with cervical dystonia in the proband. Her sister exhibited similar symptoms without evident telangiectasia. Genetic testing revealed 2 heterozygous pathogenic Discussion: This report expands the known clinical spectrum of AT, highlighting a familial case of atypical AT. Moreover, it underscores the clinical utility of Nanopore long-read sequencing in phasing variant haplotypes, essential for diagnosing autosomal recessive disorders, especially beneficial for cases without parental samples.

Identifiers

PMID38854973
PMCPMC11157422

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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.