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Article

The recurrent SACS gene p.Arg272His hotspot expands the neurodevelopmental and cognitive spectrum of ARSACS.

Neurogenetics - 31 Aug 2026

Sortino Vincenzo, Sapuppo Annamaria, Bernabini Anastasia, Pappalardo Xena Giada, Falsaperla Raffaele, Di Pasquale Gabriele, Salpietro Vincenzo

Abstract excerpt

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare neurodegenerative disorder caused by pathogenic variants in the SACS gene. While traditionally defined by a motor triad, emerging evidence suggests a broader phenotypic spectrum that includes significant cognitive involvement. We describe a 16-year-old Sicilian female, born to consanguineous parents, and homozygous for missense variant...

Read the complete abstract on PubMed

Topics

Humans
Female
Muscle Spasticity
Adolescent
Spinocerebellar Ataxias
Heat-Shock Proteins

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Intellectual Disability

Mutation, Missense

Phenotype

Source

Identifiers

PMID: 42671486
DOI: 10.1007/s10048-026-00935-x

Genes

SACS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

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