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dc.contributor.authorMagrinelli, Francesca
dc.contributor.authorCali, Elisa
dc.contributor.authorBraga, Vinícius Lopes
dc.contributor.authorYis, Uluç
dc.contributor.authorTomoum, Hoda
dc.contributor.authorShamseldin, Hanan
dc.contributor.authorRaiman, Julian
dc.contributor.authorKernstock, Christoph
dc.contributor.authorRezende Filho, Flávio Moura
dc.contributor.authorBarsottini, Orlando Graziani Povoas
dc.contributor.authorTaylor, Robert W.
dc.contributor.authorØstergaard, Elsebet
dc.contributor.authorTamim, Abdullah
dc.contributor.authorSchäferhoff, Karin
dc.contributor.authorSallum, Juliana Maria Ferraz
dc.contributor.authorZaki, Maha S.
dc.contributor.authorKok, Fernando
dc.contributor.authorBhatia, Kailash P.
dc.contributor.authorWissinger, Bernd
dc.contributor.authorSergeant, Kate
dc.contributor.authorHaack, Tobias B.
dc.contributor.authorHorvath, Rita
dc.contributor.authorHiz, Semra
dc.contributor.authorAlkuraya, Fowzan S.
dc.contributor.authorHoulden, Henry
dc.contributor.authorPedroso, José Luiz
dc.contributor.authorMaroofian, Reza
dc.date.accessioned2022-01-10T12:45:53Z
dc.date.available2022-01-10T12:45:53Z
dc.date.issued2022-01-03
dc.date.submitted2021-10-04
dc.identifier.issn2330-1619
dc.identifier.othermdc313398
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/332491
dc.description.abstractAbstract: Background: Biallelic loss‐of‐function NDUFA12 variants have hitherto been linked to mitochondrial complex I deficiency presenting with heterogeneous clinical and radiological features in nine cases only. Objectives: To fully characterize, both phenotypically and genotypically, NDUFA12‐related mitochondrial disease. Methods: We collected data from cases identified by screening genetic databases of several laboratories worldwide and systematically reviewed the literature. Results: Nine unreported NDUFA12 cases from six pedigrees were identified, with presentation ranging from movement disorder phenotypes (dystonia and/or spasticity) to isolated optic atrophy. MRI showed basal ganglia abnormalities (n = 6), optic atrophy (n = 2), or was unremarkable (n = 1). All carried homozygous truncating NDUFA12 variants, three of which are novel. Conclusions: Our case series expands phenotype–genotype correlations in NDUFA12‐associated mitochondrial disease, providing evidence of intra‐ and inter‐familial clinical heterogeneity for the same variant. It confirms NDUFA12 variants should be included in the diagnostic workup of Leigh/Leigh‐like syndromes – particularly with dystonia – as well as isolated optic atrophy.
dc.languageen
dc.publisherJohn Wiley & Sons, Inc.
dc.subjectBRIEF REPORT
dc.subjectBRIEF REPORTS
dc.subjectNDUFA12
dc.subjectdystonia
dc.subjectoptic atrophy
dc.subjectLeigh syndrome
dc.subjectphenotypic heterogeneity
dc.titleBiallelic Loss‐of‐Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh‐Like Syndrome to Isolated Optic Atrophy
dc.typeOther
dc.date.updated2022-01-10T12:45:53Z
prism.publicationNameMovement Disorders Clinical Practice
dc.identifier.doi10.17863/CAM.79941
dcterms.dateAccepted2021-12-11
rioxxterms.versionofrecord10.1002/mdc3.13398
rioxxterms.versionAO
rioxxterms.versionVoR
rioxxterms.licenseref.urihttp://creativecommons.org/licenses/by/4.0/
dc.contributor.orcidMagrinelli, Francesca [0000-0003-4706-6245]
dc.contributor.orcidRezende Filho, Flávio Moura [0000-0003-4565-5898]
dc.contributor.orcidBhatia, Kailash P. [0000-0001-8185-286X]
dc.contributor.orcidHoulden, Henry [0000-0002-2866-7777]
dc.contributor.orcidPedroso, José Luiz [0000-0002-1672-8894]
pubs.funder-project-idResearch Advisory Council ‐ Riyadh (2121053)
pubs.funder-project-idWellcome Trust (WT093205MA, WT104033AIA)


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