Autosomal dominant psychiatric disorders and mitochondrial DNA multiple deletions: Report of a family
Autosomal dominant psychiatric disorders and mitochondrial DNA multiple deletions: Report of a family
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DOI：
10.1016/j.jad.2007.05.016
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发表时间：
2008-02-01
影响因子：
6.6
通讯作者：
Siciliano, Gabriele
中科院分区：
文献类型：
--
作者：
Mancuso, Michelangelo;Ricci, Giulia;Siciliano, Gabriele
背景资料：精神问题，包括双相情感障碍（BD）和精神分裂症，在线粒体疾病（MD）中很常见，并且经常出现在线粒体功能障碍的诊断之前。然而，它们很少是MD的唯一持续性表现，它们通常与其他神经或非神经学特征相关。病例报告：在这里，我们描述了一个意大利家族，在肌肉中有多个mtDNA缺失，其中BD，精神分裂症和抑郁症在几代人中复发，而没有其他线粒体功能障碍的主要体征。在有精神问题家族史的患者中，即使没有线粒体脑肌病的其他典型特征，也应该记住MD的可能性。(c)2007 Elsevier B.V.保留所有权利。
Background: Psychiatric problems, including bipolar affective disorder (BD) and schizophrenia, are common in mitochondrial diseases (MD) and frequently precede the diagnosis of mitochondrial dysfunction. However, they are rarely the only persistent manifestation of a MD and they are usually associated with other neurological or non-neuro logical features.Case report: Here, we describe an Italian family with multiple deletions of mtDNA in muscle, in which BD, schizophrenia, and depression recurred over several generations in the absence of other major signs of mitochondrial dysfunction.Conclusion: In patients with positive family history of psychiatric problems, the possibility of MD should be kept in mind, even in absence of other canonical features of mitochondrial encephalomyopathies. (c) 2007 Elsevier B.V. All rights reserved.