Mitochondrial small fiber neuropathy as a novel phenotypic trait of Leigh-like syndrome due to the variant m.10191T&gt;C in MT-ND3

Newstead, Shaundra M.; Fiorini, Ana Cláudia; Scorza, Carla A.; Finsterer, Josef

doi:10.1016/j.clinsp.2023.100206

Cited by 2 publications

(1 citation statement)

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“…Another mutated gene associated with LSS is MT-ND3, where we also found mutations in our cohort. The m.10191T>C (p.Ser45Pro) may manifest as a remarkable CI deficiency, inducing an early neonatal fulminant phenotype [54] or milder cases of encephalopathy, such as P21 [55], and small fiber neuropathy [56], but configuring dystonia and dysarthria as main symptoms [57]. It can also be associated with a slowly clinical progression from infancy to adulthood [58], leading to the association of mtDNA mutations to "spectrum" nomenclature, which was only acknowledged to nDNA mutations [9].…”

Section: Discussionmentioning

confidence: 99%

Leigh Syndrome Spectrum: A Portuguese Population Cohort in an Evolutionary Genetic Era

Baldo

Nogueira

Pereira

et al. 2023

Genes

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Mitochondrial diseases are the most common inherited inborn error of metabolism resulting in deficient ATP generation, due to failure in homeostasis and proper bioenergetics. The most frequent mitochondrial disease manifestation in children is Leigh syndrome (LS), encompassing clinical, neuroradiological, biochemical, and molecular features. It typically affects infants but occurs anytime in life. Considering recent updates, LS clinical presentation has been stretched, and is now named LS spectrum (LSS), including classical LS and Leigh-like presentations. Apart from clinical diagnosis challenges, the molecular characterization also progressed from Sanger techniques to NGS (next-generation sequencing), encompassing analysis of nuclear (nDNA) and mitochondrial DNA (mtDNA). This upgrade resumed steps and favored diagnosis. Hereby, our paper presents molecular and clinical data on a Portuguese cohort of 40 positive cases of LSS. A total of 28 patients presented mutation in mtDNA and 12 in nDNA, with novel mutations identified in a heterogeneous group of genes. The present results contribute to the better knowledge of the molecular basis of LS and expand the clinical spectrum associated with this syndrome.

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Section: Discussionmentioning

confidence: 99%

Leigh Syndrome Spectrum: A Portuguese Population Cohort in an Evolutionary Genetic Era

Baldo

Nogueira

Pereira

et al. 2023

Genes

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Connective tissue involvement in an m.10191 T > C carrier with Leigh-like syndrome

Finsterer,

Newstead

2023

Bull Natl Res Cent

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Background Connective tissue involvement in a mitochondrial disorder has been only rarely reported. Case presentation A 32-year-old female with Leigh-like syndrome extending into adulthood due to the mtDNA variant m.10191 T > C developed various connective tissue abnormalities, which manifested as hyperlaxity of joints, decreased clivo-axial angle, subluxations of various joints, scoliosis, hyperextensibility of skin (stretchy skin), easy tearing, papyraceous scarring, frequent petechiae, very easy bruising, impaired wound healing, blood pooling in feet, and tiny veins. She received symptomatic treatment and physiotherapy, which provided some sort of relief. Conclusions The phenotypic spectrum of the m.10191 T > C variant is broader than previously anticipated.

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Mitochondrial small fiber neuropathy as a novel phenotypic trait of Leigh-like syndrome due to the variant m.10191T>C in MT-ND3

Cited by 2 publications

References 5 publications

Leigh Syndrome Spectrum: A Portuguese Population Cohort in an Evolutionary Genetic Era

Leigh Syndrome Spectrum: A Portuguese Population Cohort in an Evolutionary Genetic Era

Connective tissue involvement in an m.10191 T > C carrier with Leigh-like syndrome

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