Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes

Primary coenzyme Q10 deficiency-7 is caused by homozygous or compound heterozygous mutations in the COQ4 gene. Until now 12 patients have been reported, most presenting with a lethal infantile phenotype with encephalopathy, epilepsy and cardiomyopathy. We report on a new phenotype of COQ4 deficiency...

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Autores principales: Bosch, Annet M., Kamsteeg, Erik-Jan, Rodenburg, Richard J., van Deutekom, Arend W., Buis, Dennis R., Engelen, Marc, Cobben, Jan-Maarten
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6138878/
https://www.ncbi.nlm.nih.gov/pubmed/30225196
http://dx.doi.org/10.1016/j.ymgmr.2018.09.002
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author Bosch, Annet M.
Kamsteeg, Erik-Jan
Rodenburg, Richard J.
van Deutekom, Arend W.
Buis, Dennis R.
Engelen, Marc
Cobben, Jan-Maarten
author_facet Bosch, Annet M.
Kamsteeg, Erik-Jan
Rodenburg, Richard J.
van Deutekom, Arend W.
Buis, Dennis R.
Engelen, Marc
Cobben, Jan-Maarten
author_sort Bosch, Annet M.
collection PubMed
description Primary coenzyme Q10 deficiency-7 is caused by homozygous or compound heterozygous mutations in the COQ4 gene. Until now 12 patients have been reported, most presenting with a lethal infantile phenotype with encephalopathy, epilepsy and cardiomyopathy. We report on a new phenotype of COQ4 deficiency: a childhood onset spinocerebellar ataxia with stroke-like episodes.
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spelling pubmed-61388782018-09-17 Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes Bosch, Annet M. Kamsteeg, Erik-Jan Rodenburg, Richard J. van Deutekom, Arend W. Buis, Dennis R. Engelen, Marc Cobben, Jan-Maarten Mol Genet Metab Rep Case Report Primary coenzyme Q10 deficiency-7 is caused by homozygous or compound heterozygous mutations in the COQ4 gene. Until now 12 patients have been reported, most presenting with a lethal infantile phenotype with encephalopathy, epilepsy and cardiomyopathy. We report on a new phenotype of COQ4 deficiency: a childhood onset spinocerebellar ataxia with stroke-like episodes. Elsevier 2018-09-13 /pmc/articles/PMC6138878/ /pubmed/30225196 http://dx.doi.org/10.1016/j.ymgmr.2018.09.002 Text en © 2018 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Bosch, Annet M.
Kamsteeg, Erik-Jan
Rodenburg, Richard J.
van Deutekom, Arend W.
Buis, Dennis R.
Engelen, Marc
Cobben, Jan-Maarten
Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes
title Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes
title_full Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes
title_fullStr Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes
title_full_unstemmed Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes
title_short Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes
title_sort coenzyme q10 deficiency due to a coq4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6138878/
https://www.ncbi.nlm.nih.gov/pubmed/30225196
http://dx.doi.org/10.1016/j.ymgmr.2018.09.002
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