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Article

Dystonia-ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency.

Annals of clinical and translational neurology - 1 May 2020

Ronchi Dario, Monfrini Edoardo, Bonato Sara, Mancinelli Veronica, Cinnante Claudia, Salani Sabrina, Bordoni Andreina, Ciscato Patrizia, Fortunato Francesco, Villa Marianna, Di Fonzo Alessio, Corti Stefania, Bresolin Nereo, Comi Giacomo P

Abstract excerpt

Biallelic mutations in ECHS1, encoding the mitochondrial enoyl-CoA hydratase, have been associated with mitochondrial encephalopathies with basal ganglia involvement. Here, we describe a novel clinical presentation consisting of dystonia-ataxia syndrome with hearing loss and a peculiar torsional nystagmus observed in two adult siblings. The presence of a 0.9-ppm peak at MR spectroscopy analysis suggested the...

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Identifiers

PMID: 32329585
DOI: 10.1002/acn3.51025
PMCID: PMC7261751

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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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