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A multicenter study on Leigh syndrome: disease course and predictors of survival

TLDR
The presence of pathological signs at birth and a history of epileptic seizures were associated with higher occurrence of acute exacerbations and/or relapses, and increased lactate in the cerebrospinal fluid was significantly correlated to a more severe disease course.
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Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion.

TLDR
A combined respiratory-chain enzyme deficiency associated with mitochondrial DNA (mtDNA) depletion in a small consanguineous family with fatal infantile lactic acidosis is found.
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Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect.

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Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations.

TLDR
12 patients with autosomal recessive mitochondrial encephalomyopathy with elevated methylmalonic acid were identified, and some of the patients fulfilled the criteria for Leigh syndrome, and a novel splice site mutation in SUCLA2 was identified leading to skipping of exon 4.
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Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes.

TLDR
The skeletal features in Eiken syndrome are opposite to those in Blomstrand chondrodysplasia, which is the first description of opposite manifestations resulting from distinct recessive mutations in the same gene.
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Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases

TLDR
No clinical, biochemical, or genetic parameters indicating longer survival were found, however defects in some genes seem to be associated with a better or poorer prognosis, cardiomyopathy, Leigh syndrome or brainstem lesions.
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Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients

TLDR
The mutation analysis revealed a number of novel mutations, including a homozygous deletion of the entire SUCLA2 gene, and a trend towards longer survival in patients with missense mutations compared to loss-of-function mutations.
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Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

TLDR
The data show that riboflavin treatment improves complex I activity in the majority of patient-derived fibroblasts tested, and this effect was also reported for most of the treated patients and is mirrored in the survival data.
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A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria

TLDR
A patient is reported with a novel homozygous missense mutation in SUCLG1, whose phenotype is similar to that of patients with SUCLA2 mutations.
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Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome

TLDR
A girl with Leigh syndrome born to first-cousin parents of Pakistani descent with an isolated respiratory chain complex I deficiency in muscle and fibroblasts is investigated, and it is suggested that NDUFA12 is required either at a late step in the assembly of complex I, or in the stability ofcomplex I.
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