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Article

Phenotypical spectrum of SACS variants: Neuromuscular perspective of a complex neurodegenerative disorder.

Acta neurologica Scandinavica - 1 May 2022

Çakar Arman, İnci Meltem, Özdağ Acarlı Ayşe Nur, Çomu Sinan, Candayan Ayşe, Battaloğlu Esra, Tekgül Şeyma, Başak Ayşe Nazlı, Durmuş Hacer, Parman Yeşim

Abstract excerpt

OBJECTIVES: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused by the SACS gene variants. Main clinical features include early-onset and progressive cerebellar ataxia, spasticity, sensorimotor polyneuropathy. However, the phenotypic spectrum expanded with the increased availability of next-generation sequencing methods. MATERIALS AND METHODS: Herein, we describe the clinical features of...

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PMID: 35130357
DOI: 10.1111/ane.13592

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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