Leigh syndrome (LS) is an incurable, nearly always fatal, neurodegenerative, pediatric disorder that results from respiratory chain failure. The most common mitochondrial DNA (mtDNA) mutations that result in LS are m.8993T -> C/G and m.9176T -> C/G, which were previously found in several patients with early-onset Leigh syndrome. Here, we describe clinical and molecular features of a novel pedigree, where LS developed in two siblings. The proband was a young woman with an unusual adult-onset LS. She harbored a homoplasmic m.9176T -> C mutation, based on analysis of a muscle biopsy. In contrast, the brother died at a young age. This novel case report and literature review highlights the variability of phenotypic expression of the m.9176T -> C mutation

Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T > C mutation / D. Ronchi, A. Bordoni, A. Cosi, M. Rizzuti, E. Fassone, A. Di Fonzo, M. Servida, M. Sciacco, M. Collotta, M. Ronzoni, V. Lucchini, M. Mattioli, M. Moggio, N. Bresolin, S. Corti, G. Comi. - In: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS. - ISSN 0006-291X. - 412:2(2011 Aug), pp. 245-248. [10.1016/j.bbrc.2011.07.076]

Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T > C mutation

D. Ronchi
Primo
;
A. Bordoni
Secondo
;
A. Cosi;E. Fassone;A. Di Fonzo;M. Servida;V. Lucchini;M. Mattioli;N. Bresolin;S. Corti
Penultimo
;
G. Comi
Ultimo
2011

Abstract

Leigh syndrome (LS) is an incurable, nearly always fatal, neurodegenerative, pediatric disorder that results from respiratory chain failure. The most common mitochondrial DNA (mtDNA) mutations that result in LS are m.8993T -> C/G and m.9176T -> C/G, which were previously found in several patients with early-onset Leigh syndrome. Here, we describe clinical and molecular features of a novel pedigree, where LS developed in two siblings. The proband was a young woman with an unusual adult-onset LS. She harbored a homoplasmic m.9176T -> C mutation, based on analysis of a muscle biopsy. In contrast, the brother died at a young age. This novel case report and literature review highlights the variability of phenotypic expression of the m.9176T -> C mutation
Leigh disease maternally inherited; Leigh's disease; Mitochondrial disease; MT-ATP6 protein
Settore MED/26 - Neurologia
ago-2011
Article (author)
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/179755
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