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.

Dystonia-ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency / D. Ronchi, E. Monfrini, S. Bonato, V. Mancinelli, C. Cinnante, S. Salani, A. Bordoni, P. Ciscato, F. Fortunato, M. Villa, A. Di Fonzo, S. Corti, N. Bresolin, G.P. Comi. - In: ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY. - ISSN 2328-9503. - (2020). [Epub ahead of print] [10.1002/acn3.51025]

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

Ronchi, Dario;Monfrini, Edoardo;Bonato, Sara;Cinnante, Claudia;Salani, Sabrina;Bordoni, Andreina;Fortunato, Francesco;Corti, Stefania;Bresolin, Nereo;Comi, Giacomo P
2020

Abstract

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.
Settore MED/26 - Neurologia
Settore MED/03 - Genetica Medica
24-apr-2020
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/731961
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