Autosomal dominant leukodystrophy is an adult onset neurodegenerative disorder presenting with progressive symptoms of ataxia and autonomic dysfunction in fourth or fifth decade in life. It has clinical similarity with multiple sclerosis, but shows characteristic magnetic resonance imaging findings of diffuse bilaterally symmetrical leukodystrophy which can distinguish this disorder. It is a rare disorder with no known treatment till date, and has never been described from the Indian subcontinent. We present an Indian family with autosomal dominant adult-onset demyelinating leukodystrophy with multiple members affected over four generations, and demonstrate a cheap and accurate molecular method of real-time polymerase chain reaction to detect the LMNB1 gene duplication, which is the genetic basis of this devastating disorder.


中文翻译：

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印度家庭中LMNB1重复介导的常染色体显性成年发病白细胞营养不良


常染色体显性遗传脑白质营养不良是一种成人发病的神经退行性疾病，在生命的第四或第五个十年出现共济失调和自主神经功能障碍的进行性症状。它与多发性硬化有临床相似性，但表现出弥漫性双侧对称性脑白质营养不良的特征性磁共振成像表现，可以区分这种疾病。这是一种罕见的疾病，迄今为止尚无已知的治疗方法，并且从未在印度次大陆被描述过。我们介绍了一个患有常染色体显性成人脱髓鞘性白质营养不良的印度家庭，该家庭的多个成员受影响超过四代，并展示了一种廉价而准确的实时聚合酶链反应分子方法来检测LMNB1基因复制，这是这种破坏性疾病的遗传基础。