TY - JOUR
T1 - Dystonia-ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency
AU - Ronchi, Dario
AU - Monfrini, Edoardo
AU - Bonato, Sara
AU - Mancinelli, Veronica
AU - Cinnante, Claudia
AU - Salani, Sabrina
AU - Bordoni, Andreina
AU - Ciscato, Patrizia
AU - Fortunato, Francesco
AU - Villa, Marianna
AU - Di Fonzo, Alessio
AU - Corti, Stefania
AU - Bresolin, Nereo
AU - Comi, Giacomo P.
PY - 2020
Y1 - 2020
N2 - 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 accumulation of branched-chain amino acids. Exome sequencing in index probands identified two ECHS1 mutations, one of which was novel (p.V82L). ECHS1 protein levels and residual activities were reduced in patients’ fibroblasts. This paper expands the phenotypic spectrum observed in patients with impaired valine catabolism.
AB - 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 accumulation of branched-chain amino acids. Exome sequencing in index probands identified two ECHS1 mutations, one of which was novel (p.V82L). ECHS1 protein levels and residual activities were reduced in patients’ fibroblasts. This paper expands the phenotypic spectrum observed in patients with impaired valine catabolism.
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U2 - 10.1002/acn3.51025
DO - 10.1002/acn3.51025
M3 - Article
AN - SCOPUS:85083789056
SN - 2328-9503
VL - 7
SP - 839
EP - 845
JO - Annals of Clinical and Translational Neurology
JF - Annals of Clinical and Translational Neurology
IS - 5
ER -