Heterogeneity of Coenzyme Q<sub>10</sub>Deficiency

Emmanuele, Valentina; López, Luís C.; Berardo, Andrés; Naini, Ali; Tadesse, Saba; Wen, Bing; D’Agostino, Erin; Solomon, Michelle; DiMauro, Salvatore; Quinzii, Catarina M.; Hirano, Michio

doi:10.1001/archneurol.2012.206

Cited by 195 publications

(89 citation statements)

References 37 publications

(28 reference statements)

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“…Reduced CoQ 10 levels were reported in some but not all AOA1 patients with confirmed pathogenic APTX mutations [4]. Autosomal recessive mutations in ADCK3, which encodes a kinase involved in CoQ 10 biosynthesis, have been identified in several families with juvenile- or adult-onset ataxia, confirming the link between ataxia and CoQ 10 deficiencies [3, 5]. Some patients improved on CoQ 10 supplementation [3, 5]; the lack of improvement in some patients has been attributed to the reduced bioavailability of CoQ 10 and its limited ability to cross the blood brain barrier; however, worsening has been reported for one patient treated with Idebenone, a short-chain CoQ analog [6].…”

Section: Introductionmentioning

confidence: 99%

“…Coenzyme Q 10 (CoQ 10 ) deficiencies comprise a heterogeneous group of autosomal recessive conditions with primary deficiencies caused by mutations in genes encoding CoQ 10 biosynthesis enzymes and secondary forms caused by genetic defects not directly related to CoQ 10 biosynthesis [3]. Ataxia is the most common clinical phenotype associated with CoQ 10 deficiency [3].…”

Section: Introductionmentioning

confidence: 99%

“…Ataxia is the most common clinical phenotype associated with CoQ 10 deficiency [3]. The first causative mutations identified in the ataxic form of CoQ 10 deficiency were detected in APTX, which encodes aprataxin and is the causative gene for ataxia with oculomotor apraxia 1 (AOA1) [4].…”

Section: Introductionmentioning

confidence: 99%

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ANO10 mutations cause ataxia and coenzyme Q10 deficiency

et al. 2014

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Inherited ataxias are heterogeneous disorders affecting both children and adults, with over 40 different causative genes, making molecular genetic diagnosis challenging. Although recent advances in next-generation sequencing have significantly improved mutation detection, few treatments exist for patients with inherited ataxia. In two patients with adult-onset cerebellar ataxia and coenzyme Q10 (CoQ10) deficiency in muscle, whole exome sequencing revealed mutations in ANO10, which encodes anoctamin 10, a member of a family of putative calcium-activated chloride channels, and the causative gene for autosomal recessive spinocerebellar ataxia-10 (SCAR10). Both patients presented with slowly progressive ataxia and dysarthria leading to severe disability in the sixth decade. Epilepsy and learning difficulties were also present in one patient, while retinal degeneration and cataract were present in the other. The detection of mutations in ANO10 in our patients indicate that ANO10 defects cause secondary low CoQ10 and SCAR10 patients may benefit from CoQ10 supplementation.Electronic supplementary materialThe online version of this article (doi:10.1007/s00415-014-7476-7) contains supplementary material, which is available to authorized users.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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ANO10 mutations cause ataxia and coenzyme Q10 deficiency

et al. 2014

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“…Currently, it is known that 8 of the 13 COQ genes related to CoQ biosynthesis can cause human disease (Desbats et al, 2015), but these primary conditions are extremely rare. However, due to the intricate mechanisms and biological functions in which CoQ participates, and probably also due to its connection to other metabolic pathways, a secondary CoQ deficiency is a common feature among different diseases, such as mitochondrial OXPHOS disorders (Sacconi et al, 2010;Montero et al, 2013;Emmanuele et al, 2012). Furthermore, it has been suggested that CoQ would be the best predictor for a MRC deficiency (Miles et al, 2005), and thus routine CoQ measurement in the diagnostic workflow of OXPHOS disease seems advisable.…”

Section: Introductionmentioning

confidence: 99%

Secondary coenzyme Q 10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders

et al. 2016

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“…Q10 deficiency is caused by mutations in several genes involved in the biosynthesis of coenzyme Q10 [58]. Clinical manifestation can be variable including a spectrum of cerebellar ataxia, isolated myopathy, encephalomyopathy, nephropathy, and severe multisystemic disease.…”

Section: Drug Therapy For Cerebellar Ataxiamentioning

confidence: 99%

Consensus Paper: Management of Degenerative Cerebellar Disorders

et al. 2013

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Treatment of motor symptoms of degenerative cerebellar ataxia remains difficult. Yet there are recent developments that are likely to lead to significant improvements in the future. Most desirable would be a causative treatment of the underlying cerebellar disease. This is currently available only for a very small subset of cerebellar ataxias with known metabolic dysfunction. However, increasing knowledge of the pathophysiology of hereditary ataxia should lead to an increasing number of medically sensible drug trials. In this paper, data from recent drug trials in patients with recessive and dominant cerebellar ataxias will be summarized. There is consensus that up to date, no medication has been proven effective. Aminopyridines and acetazolamide are the only exception, which are beneficial in patients with episodic ataxia type 2. Aminopyridines are also effective in a subset of patients presenting with downbeat nystagmus. As such, all authors agreed that the mainstays of treatment of degenerative cerebellar ataxia are currently physiotherapy, occupational therapy, and speech therapy. For many years, well-controlled rehabilitation studies in patients with cerebellar ataxia were lacking. Data of recently published studies show that coordinative training improves motor function in both adult and juvenile patients with cerebellar degeneration. Given the well-known contribution of the cerebellum to motor learning, possible mechanisms underlying improvement will be outlined. There is consensus that evidence-based guidelines for the physiotherapy of degenerative cerebellar ataxia need to be developed. Future developments in physiotherapeutical interventions will be discussed including application of non-invasive brain stimulation.

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Heterogeneity of Coenzyme Q₁₀Deficiency

Cited by 195 publications

References 37 publications

ANO10 mutations cause ataxia and coenzyme Q10 deficiency

ANO10 mutations cause ataxia and coenzyme Q10 deficiency

Secondary coenzyme Q 10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders

Consensus Paper: Management of Degenerative Cerebellar Disorders

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Heterogeneity of Coenzyme Q10Deficiency

Cited by 195 publications

References 37 publications

ANO10 mutations cause ataxia and coenzyme Q10 deficiency

ANO10 mutations cause ataxia and coenzyme Q10 deficiency

Secondary coenzyme Q 10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders

Consensus Paper: Management of Degenerative Cerebellar Disorders

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Heterogeneity of Coenzyme Q₁₀Deficiency