ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency.
ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency.
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ANO10突变会导致共济失调和辅酶q缺乏。
DOI：
10.1007/s00415-014-7476-7
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发表时间：
2014-11
影响因子：
6
通讯作者：
Horvath R
中科院分区：
文献类型：
--
作者：
Balreira A;Boczonadi V;Barca E;Pyle A;Bansagi B;Appleton M;Graham C;Hargreaves IP;Rasic VM;Lochmüller H;Griffin H;Taylor RW;Naini A;Chinnery PF;Hirano M;Quinzii CM;Horvath R
遗传性共济失调是影响儿童和成人的异质性疾病，有40多种不同的致病基因，使分子遗传学诊断具有挑战性。尽管新一代测序的最新进展显著改善了突变检测，但对于遗传性共济失调患者的治疗方法却很少。在两例成人发病的小脑共济失调和肌肉中辅酶Q10 （CoQ10）缺乏的患者中，全外显子组测序显示ANO10突变，ANO10编码一种被认为是钙活化氯离子通道家族的成员，以及常染色体隐性脊髓小脑共济失调-10 （SCAR10）的致病基因。两例患者均表现为缓慢进行性共济失调和构音障碍，在第60年导致严重残疾。一名患者还出现癫痫和学习困难，而另一名患者出现视网膜变性和白内障。在我们的患者中检测到的ANO10突变表明，ANO10缺陷导致继发性低辅酶q10，而SCAR10患者可能从补充辅酶q10中获益。本文的在线版本（doi:10.1007/s00415-014-7476-7）包含补充材料，仅供授权用户使用。
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. The 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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影响因子：
9.9
作者：
Quinzii, CM;Kattah, AG;Hirano, M
通讯作者：
Hirano, M
影响因子：
9.8
作者：
Lopez, Luis Carlos;Schuelke, Markus;Hirano, Michio
通讯作者：
Hirano, Michio
影响因子：
6
作者：
Chamova, Teodora;Florez, Laura;Tournev, Ivailo
通讯作者：
Tournev, Ivailo
影响因子：
3.7
作者：
Mignot C;Apartis E;Durr A;Marques Lourenço C;Charles P;Devos D;Moreau C;de Lonlay P;Drouot N;Burglen L;Kempf N;Nourisson E;Chantot-Bastaraud S;Lebre AS;Rio M;Chaix Y;Bieth E;Roze E;Bonnet I;Canaple S;Rastel C;Brice A;Rötig A;Desguerre I;Tranchant C;Koenig M;Anheim M
通讯作者：
Anheim M
影响因子：
9.8
作者：
Vermeer, Sascha;Hoischen, Alexander;Knoers, Nine
通讯作者：
Knoers, Nine