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Mitochondrial DNA instability disorders are responsible for a large clinical spectrum, among which amyotrophic lateral sclerosis-like symptoms and frontotemporal dementia are extremely rare. We report a large family with a late-onset phenotype including motor neuron disease, cognitive decline resembling frontotemporal dementia, cerebellar ataxia and(More)
Sir, In a Letter to the Editor submitted to Brain, van Rheenen and colleagues (2014) critically appraise the involvement of the CHCHD10 gene in familial amyotrophic lateral sclerosis (ALS). They also question the involvement of CHCHD10 in frontotem-poral dementia (FTD)-ALS when they state that 'the assumption that the novel variants indeed cause ALS/FTD in(More)
Sir, We and others have identified different CHCHD10 mutations responsible for mitochondrial DNA instability disorder, early-onset mitochondrial myopathy, frontotem-poral dementia-amyotrophic lateral sclerosis (FTD-ALS) clinical spectrum and late-onset spinal motor neuropathy The letter from Dobston-Stone et al., (2015) asks the question about the(More)
Coenzyme Q10 (CoQ10 or ubiquinone) deficiency can be due either to mutations in genes involved in CoQ10 biosynthesis pathway, or to mutations in genes unrelated to CoQ10 biosynthesis. CoQ10 defect is the only oxidative phosphorylation disorder that can be clinically improved after oral CoQ10 supplementation. Thus, early diagnosis, first evoked by(More)
Sir, In a recent publication in Brain, we described a novel heterozygous CHCHD10 mutation (c.176C4T; p.Ser59Leu) in a large French family with a late-onset phenotype including cognitive decline resembling frontotemporal dementia (FTD), motor neuron disease, cerebellar ataxia and mitochondrial myopathy with multiple mtDNA deletions (Bannwarth et al., 2014).(More)
INTRODUCTION Acyl-coenzyme A dehydrogenase 9 (ACAD9) has a role in mitochondrial complex I (CI) assembly. Only a few patients who carry ACAD9 mutations have been reported. They mainly present with severe hypertrophic cardiomyopathy, although a minority have only mild isolated myopathy. Although the secondary factors influencing disease severity have not(More)
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