Evidence map›Paper›PMID 42045154›Full record

ArticleHuman genome variation2026

Duplication of 4-bp in SACS leads to autosomal recessive spastic ataxia of Charlevoix-Saguenay type in two Pakistani patients.

Saba Bibi, Asad Munir, Fawad Ali, Helen Nabiryo Frederiksen, Sabawoon Shah, Abdur Rashid, Sergey Oreshkov, Shahab Uddin, Hamid Ur Rahman, Shumaila Noreen and 3 more

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In one paragraph

Article in Human genome variation, 2026. 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
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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

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5 · Who and what money

Authors and funding

13 authors.

Saba Bibi *Department of Zoology, Faculty of Biological and Health Sciences, Hazara University, Mansehra, Pakistan.
Asad Munir *Department of Zoology, Faculty of Biological and Health Sciences, Hazara University, Mansehra, Pakistan.ORCID http://orcid.org/0000-0001-5461-3599
Fawad AliDepartment of Neurology, Saidu Group of Teaching Hospital, Saidu Sharif, Swat, Pakistan.
Helen Nabiryo FrederiksenDepartment of Ophthalmology, University of Lausanne, Jules Gonin Eye Hospital, Fondation Asile Des Aveugles, Lausanne, Switzerland.
Sabawoon ShahDepartment of Medicine, Luqman International Hospital, Saidu Sharif, Swat, Pakistan.
Abdur RashidDepartment of Ophthalmology, University of Lausanne, Jules Gonin Eye Hospital, Fondation Asile Des Aveugles, Lausanne, Switzerland.
Sergey OreshkovDepartment of Ophthalmology, University of Lausanne, Jules Gonin Eye Hospital, Fondation Asile Des Aveugles, Lausanne, Switzerland.
Shahab UddinDepartment of Zoology, Faculty of Biological and Health Sciences, Hazara University, Mansehra, Pakistan.ORCID http://orcid.org/0009-0000-9503-3056
Hamid Ur RahmanDepartment of Zoology, Faculty of Biological and Health Sciences, Hazara University, Mansehra, Pakistan.ORCID http://orcid.org/0000-0001-9469-8689
Shumaila NoreenDepartment of Zoology, Faculty of Biological and Health Sciences, Hazara University, Mansehra, Pakistan.
Mukhtar UllahDepartment of Ophthalmology, University of Lausanne, Jules Gonin Eye Hospital, Fondation Asile Des Aveugles, Lausanne, Switzerland.ORCID http://orcid.org/0000-0003-0911-0831
Muhammad Ansar *Department of Ophthalmology, University of Lausanne, Jules Gonin Eye Hospital, Fondation Asile Des Aveugles, Lausanne, Switzerland. muhammad.ansar@fa2.ch.
Atta Ur Rehman *Department of Zoology, Faculty of Biological and Health Sciences, Hazara University, Mansehra, Pakistan. atta.rehman@hu.edu.pk.ORCID http://orcid.org/0000-0002-5591-1835

Funding

Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung (Swiss National Science Foundation) 320030_212959
6 · The paper itself

Abstract

In this study, we present two patients from a Pakistani family affected by autosomal recessive spastic ataxia of Charlevoix-Saguenay, a rare neurodegenerative disorder. Exome sequencing identified a homozygous 4-bp duplication (NM_014363.6:c.12129_12132dup, p.Leu4045ArgfsTer8) in SACS correlating with disease in the affected family members.

Identifiers

PMID42045154
PMCPMC13280005

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