Evidence map›Paper›PMID 41923236›Full record

ArticleOrphanet journal of rare diseases2026

Six novel SACS mutations expand the autosomal recessive spastic ataxia of Charlevoix-Saguenay spectrum.

Susumu Ikenoshita, Toshiya Nomura, Haruo Shimazaki, Hiroyuki Uetani, Keiichi Nakahara, Takahiro Okazaki, Michie Imamura, Hironori Mizutani, Aoi Fudo, Yuya Jo and 5 more

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Article in Orphanet journal of rare diseases, 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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1 · What the graph read from it

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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.

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

15 authors.

Susumu IkenoshitaDepartment of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto, 860-0811, Japan. s.ikenoshita1986@gmail.com.ORCID http://orcid.org/0000-0002-8964-0762
Toshiya NomuraDepartment of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto, 860-0811, Japan.
Haruo ShimazakiFaculty of Health & Medical Care, Saitama Medical University, Saitama, 350-1241, Japan.
Hiroyuki UetaniDepartment of Diagnostic Radiology, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, 860-0811, Japan.
Keiichi NakaharaDepartment of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto, 860-0811, Japan.
Takahiro OkazakiDepartment of Neurology, Kumamoto General Hospital, Yatsushiro, 866-8660, Japan.
Michie ImamuraDepartment of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto, 860-0811, Japan.
Hironori MizutaniDepartment of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto, 860-0811, Japan.
Aoi FudoDepartment of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto, 860-0811, Japan.
Yuya JoDepartment of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto, 860-0811, Japan.
Soichiro MatsubaraDepartment of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto, 860-0811, Japan.
Yujiro HiguchiDepartment of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, 890-8520, Japan.
Toshinori HiraiDepartment of Diagnostic Radiology, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, 860-0811, Japan.
Hiroshi TakashimaDepartment of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, 890-8520, Japan.
Mitsuharu UedaDepartment of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto, 860-0811, Japan.

Funding

Japan Society for the Promotion of Science JP25K19034
6 · The paper itself

Abstract

backgroundThe clinical spectrum of autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) in Asian populations remains incompletely defined. We aimed to characterize the clinical, radiological, and genetic features of Japanese patients with ARSACS and to expand the mutational and phenotypic spectrum of this disorder.

methodsWe conducted a retrospective case series of patients diagnosed with ARSACS in our department between January 2016 and December 2023. Five patients from four families with biallelic SACS variants were identified.

resultsGenetic analysis revealed seven pathogenic SACS variants, of which six were novel. Clinical heterogeneity was notable, with age at onset ranging from 1 to 27 years. Four patients showed classical ARSACS-related neuroimaging findings, whereas one patient presented with a Charcot–Marie–Tooth disease (CMT)-mimicking phenotype characterized by predominant peripheral neuropathy, mild cerebellar involvement, and absence of the classical pontocerebellar magnetic resonance imaging features.

conclusionsThe recognition of CMT-mimicking presentations supports considering ARSACS in the differential diagnosis of hereditary peripheral neuropathies, particularly in patients with additional cerebellar, pyramidal, or supportive neuroimaging features.

Indexed as

Heat-Shock ProteinsMuscle SpasticitySpinocerebellar AtaxiasAdolescentAdultCharcot-Marie-Tooth DiseaseChildChild, PreschoolFemaleHumansMagnetic Resonance ImagingMaleMutationRetrospective StudiesYoung AdultHeat-Shock ProteinsSACS protein, humanAutosomal recessive spastic ataxia of Charlevoix–SaguenayCharcot–Marie–Tooth diseaseHereditary neuropathySACS variants

Identifiers

PMID41923236
PMCPMC13169537

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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.