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Article

A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases.

Journal of molecular neuroscience : MN - 1 Jan 2020

Xiromerisiou Georgia, Dadouli Katerina, Marogianni Chrysoula, Provatas Antonios, Ntellas Panagiotis, Rikos Dimitrios, Stathis Pantelis, Georgouli Despina, Loules Gedeon, Zamanakou Maria, Hadjigeorgiou Georgios M

Abstract excerpt

ARSACS is an autosomal recessive disorder characterized by ataxia, spasticity, and polyneuropathy. A plethora of worldwide distributed mutations have been described so far. Here, we report two brothers, born to non-consanguineous parents, presenting with cerebellar ataxia and peripheral neuropathy. Whole-exome sequencing revealed the presence of a novel homozygous variant in the SACS gene. The variant was...

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Identifiers

PMID: 31701440
DOI: 10.1007/s12031-019-01410-z

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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