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Article

Assessment of Sacsin Turnover in Patients With ARSACS: Implications for Molecular Diagnosis and Pathogenesis.

Neurology - 7 Dec 2021

Longo Fabiana, De Ritis Daniele, Miluzio Annarita, Fraticelli Davide, Baets Jonathan, Scarlato Marina, Santorelli Filippo M, Biffo Stefano, Maltecca Francesca

Abstract excerpt

BACKGROUND AND OBJECTIVES: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused by variations in SACS gene encoding sacsin, a huge multimodular protein of unknown function. More than 200 SACS variations have been described worldwide to date. Because ARSACS presents phenotypic variability, previous empirical studies attempted to correlate the nature and position of SACS variations with the...

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Identifiers

PMID: 34649874
DOI: 10.1212/WNL.0000000000012962
PMCID: PMC8665432

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