What type of study is this?

This is a Cohort Study study (also classified as: Experimental Study).

September 24, 2025Brain CommunicationsOpen Access

Biallelic NDUFA9 variants cause a progressive neurodevelopmental disorder with prominent dystonia and mitochondrial complex I deficiency

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Authors

FMFrancesca MagrinelliQueen Mary University of London LTLucie S TaylorNewcastle upon Tyne Hospitals NHS Foundation Trust SSSahar SedighzadehShahed University

Discussion

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Implication

Analysis reveals neurodevelopmental disorders and dystonia in individuals with biallelic NDUFA9 variants, highlighting their mitochondrial dysfunction.

Key Points

Biallelic NDUFA9 variants lead to mitochondrial complex I deficiency and a broad range of neurodevelopmental disorders.
80% of cases present with dystonia, feeding difficulties, and pyramidal signs in addition to neurological deterioration.
Patient data collected from global databases analyzed the impacts of NDUFA9 variants on neurodevelopmental conditions.
Study indicates clinical features suggestive of Leigh syndrome, emphasizing the critical role of NDUFA9 in neurodevelopment.

Cite This Study

Magrinelli et al. (2025) studied this question.

synapsesocial.com/papers/68d6d82e8b2b6861e4c3e1ea https://doi.org/10.1093/braincomms/fcaf369

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Implication

Analysis reveals neurodevelopmental disorders and dystonia in individuals with biallelic NDUFA9 variants, highlighting their mitochondrial dysfunction.

Biallelic NDUFA9 variants cause a progressive neurodevelopmental disorder with prominent dystonia and mitochondrial complex I deficiency

Discussion

Member takes

Implication

Key Points

Cite This Study

Biallelic NDUFA9 variants cause a progressive neurodevelopmental disorder with prominent dystonia and mitochondrial complex I deficiency

Discussion

Member takes

Implication

Key Points

Cite This Study

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