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. 2024 Dec 23;7(1):fcae470.
doi: 10.1093/braincomms/fcae470. eCollection 2025.

Complex I deficiency remains the most frequent cause of Leigh syndrome spectrum

Shamima Rahman  1
Affiliations

Complex I deficiency remains the most frequent cause of Leigh syndrome spectrum

Shamima Rahman. Brain Commun. .

Abstract

This scientific commentary refers to 'Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment', by Kaiyrzhanov et al. (https://doi.org/10.1093/braincomms/fcae453).

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Conflict of interest statement

The author reports no competing interests.

Figures

Figure 1
Figure 1
Complex I structural subunits associated with Leigh syndrome. Cartoon to illustrate the structure of complex I, and association of structural subunits with Leigh syndrome spectrum. Green denotes definitive gene–disease relationship (GDR), amber a moderate GDR and red a limited GDR.
See this image and copyright information in PMC

Comment in

  • Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment.
    Kaiyrzhanov R, Thompson K, Efthymiou S, Mukushev A, Zharylkassyn A, Prasad C, Ghayoor Karimiani E, Alvi JR, Niyazov D, Alahmad A, Babaei M, Tajsharghi H, Albash B, Alaqeel A, Charif M, Hashemi N, Heidari M, Kalantar SM, Lenaers G, Vahidi Mehrjardi MY, Srinivasan VM, Gowda VK, Mirabutalebi SH, Carere DA, Movahedinia M, Murphy D, McFarland R, Abdel-Hamid MS, Elhossini RM, Alavi S, Napier M, Belanger-Quintana A, Prasad AN, Jakobczyk J, Roubertie A, Rupar T, Sultan T, Toosi MB, Sazanov L, Severino M, Houlden H, Taylor RW, Maroofian R. Kaiyrzhanov R, et al. Brain Commun. 2024 Dec 17;7(1):fcae453. doi: 10.1093/braincomms/fcae453. eCollection 2025. Brain Commun. 2024. PMID: 39963288 Free PMC article.

References

    1. Kaiyrzhanov R, Thompson K, Efthymiou S, et al. . Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment. Brain Commun. 2024:10.1093/braincomms/fcae453. - DOI
    1. Rahman S, Blok RB, Dahl H-HM, et al. . Leigh syndrome: Clinical features and biochemical and DNA abnormalities. Ann Neurol. 1996;39(3):343–351. - PubMed
    1. Angebault C, Charif M, Guegen N, et al. . Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability. Hum Mol Genet. 2015;24(14):3948–3955. - PubMed
    1. González-Quintana A, García-Consuegra I, Belanger-Quintana A, et al. . Novel NDUFA13 mutations associated with OXPHOS deficiency and Leigh syndrome: A second family report. Genes (Basel). 2020;11(8):855. - PMC - PubMed
    1. Leigh D. Subacute necrotizing encephalomyelopathy in an infant. J Neurol Neurosurg Psychiatry. 1951;14(3):216–221. - PMC - PubMed

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