Evidence map›Paper›PMID 39804470›Full record

ArticleNeurogenetics2025

ATXN2 polyglutamine intermediate repeats length expansions in Malaysian patients with amyotrophic lateral sclerosis (ALS).

Suzanna Edgar, Nurul Angelyn Zulhairy-Liong, Melina Ellis, Shuchi Trivedi, Danqing Zhu, Jeffrey Ochieng Odongo, Khean-Jin Goh, David Paul Capelle, Nortina Shahrizaila, Marina L Kennerson and 1 more

Abstract read
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Article in Neurogenetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0cells of the map it votes in
0citing papers in PubMed
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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

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0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

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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

11 authors.

Suzanna EdgarNeurology Unit, Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, 50603, Malaysia.
Nurul Angelyn Zulhairy-LiongNeurology Unit, Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, 50603, Malaysia.
Melina EllisNorthcott Neuroscience Laboratory, Sydney Local Health District ANZAC Research Institute, Sydney Local Health District Hospital Rd, Concord, NSW, 2137, Australia.
Shuchi TrivediNorthcott Neuroscience Laboratory, Sydney Local Health District ANZAC Research Institute, Sydney Local Health District Hospital Rd, Concord, NSW, 2137, Australia.
Danqing ZhuMolecular Medicine Laboratory, NSW Health Pathology, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
Jeffrey Ochieng OdongoDepartment of Biomedical Science, Faculty of Medicine, University of Malaya, Kuala Lumpur, 50603, Malaysia.
Khean-Jin GohNeurology Unit, Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, 50603, Malaysia.
David Paul CapelleNeurology Unit, Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, 50603, Malaysia.
Nortina ShahrizailaNeurology Unit, Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, 50603, Malaysia. nortina@um.edu.my.
Marina L KennersonNorthcott Neuroscience Laboratory, Sydney Local Health District ANZAC Research Institute, Sydney Local Health District Hospital Rd, Concord, NSW, 2137, Australia. marina.kennerson@sydney.edu.au.
Azlina Ahmad-AnnuarDepartment of Biomedical Science, Faculty of Medicine, University of Malaya, Kuala Lumpur, 50603, Malaysia. azlina_aa@um.edu.my.

Funding

ALS Association Seed Grant IF091-2022ALS Association Seed Grant IF095-2023Malaysian Ministry of Education Fundamental Research Grant Scheme FRGS/1/2018/SKK08/UM/01/1
6 · The paper itself

Abstract

Intermediate CAG repeats from 29 to 33 in the ATXN2 gene contributes to the risk of amyotrophic lateral sclerosis (ALS) in European and Asian populations. In this study, 148 ALS patients of multiethnic descent: Chinese (56.1%), Malay (24.3%), Indian (12.8%), others (6.8%) and 100 neurologically normal controls were screened for the ATXN2 CAG repeat expansion. The most common repeat length in both the controls and patients was 22. No familial ALS patients were positive for the intermediate repeat sizes (29-33), while four sporadic patients (2.8%) were positive, with one harbouring a rare ATXN2 homozygous 32 repeat expansion, and a likely pathogenic variant in SPAST. All four patients had limb-onset ALS. Despite representing the smallest ethnic group in our patient cohort, three of the four patients with intermediate repeat sizes were of Indian ancestry. This study, which is the first in Malaysia and Southeast Asia, shows that ATXN2 intermediate risk expansions are relevant to ALS in these populations and will help to inform future genetic testing strategies in the clinic.

Indexed as

Amyotrophic Lateral SclerosisAtaxin-2PeptidesTrinucleotide Repeat ExpansionAdultAgedFemaleGenetic Predisposition to DiseaseHumansMalaysiaMaleMiddle AgedSoutheast Asian PeopleAtaxin-2ATXN2 protein, humanPeptidespolyglutamineAmyotrophic lateral sclerosisATXN2Homozygous repeat expansionIntermediate repeat lengthMalaysia

Identifiers

PMID39804470

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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.