Dystonia-ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency.
Ann Clin Transl Neurol
; 7(5): 839-845, 2020 05.
Article
em En
| MEDLINE
| ID: mdl-32329585
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Ataxia
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Nistagmo Patológico
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Distonia
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Enoil-CoA Hidratase
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Perda Auditiva Neurossensorial
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Erros Inatos do Metabolismo
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
/
Prognostic_studies
Limite:
Adult
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Female
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Humans
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article