Evidence map›Paper›PMID 41353788›Full record

ArticleAnnals of clinical and translational neurology2026

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay in Two Half-Siblings.

Dennis Yeow, Matthew Katz, Jonathan Rodgers, Mark Davis, Thomas Robertson, R J McKinlay Gardner, Pamela A McCombe

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In one paragraph

Article in Annals of clinical and translational neurology, 2026. 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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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

The trial behind it

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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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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.

Dennis YeowNeurodegenerative Service, Prince of Wales Hospital and Neuroscience Research Australia, Randwick, New South Wales, Australia.
Matthew KatzDepartment of Neurology, Royal Brisbane & Women's Hospital, Brisbane, Queensland, Australia.
Jonathan RodgersGenetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.
Mark DavisDepartment of Diagnostic Genomics, Pathwest Laboratory Medicine, Perth, Western Australia, Australia.
Thomas RobertsonUniversity of Queensland, Brisbane, Queensland, Australia.
R J McKinlay GardnerClinical Genetics Group, University of Otago, Dunedin, New Zealand.
Pamela A McCombeDepartment of Neurology, Royal Brisbane & Women's Hospital, Brisbane, Queensland, Australia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half-siblings who presented with progressive cerebellar ataxia, peripheral neuropathy and upper motor neuron signs. After significant diagnostic delay, genetic testing revealed both harboured a shared, paternally inherited microdeletion encompassing the SACS gene, and each harboured a different single nucleotide variant in SACS, each likely maternally inherited. Recognition of the clinical and radiologic phenotype of ARSACS may facilitate early diagnosis of this disorder even in the face of uncommon inheritance patterns.

Indexed as

Heat-Shock ProteinsIntellectual DisabilityMuscle SpasticitySpinocerebellar AtaxiasFemaleHumansMalePedigreeSiblingsHeat-Shock ProteinsSACS protein, humanARSACSperipheral neuropathyspastic ataxiaspastic ataxia Charlevoix‐Saguenay type

Identifiers

PMID41353788
PMCPMC12883688

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Registered trials

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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.