LMNB1 Duplication-Mediated Autosomal Dominant Adult-Onset Leukodystrophy in an Indian Family.
LMNB1 Duplication-Mediated Autosomal Dominant Adult-Onset Leukodystrophy in an Indian Family.
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LMNB1重复介导的印度家庭中的常染色体显性成人白细胞营养不良。
DOI：
10.4103/aian.aian_1262_20
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发表时间：
2021-05
影响因子：
1.7
通讯作者：
Verma IC
中科院分区：
文献类型：
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作者：
Bijarnia-Mahay S;Roy G;Padiath QS;Saxena R;Verma IC
常染色体显性遗传性脑白质营养不良是一种以共济失调和自主神经功能障碍为主要表现的神经退行性疾病。它与多发性硬化症有临床相似性，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，迄今为止没有已知的治疗方法，并且从未在印度次大陆描述过。我们提出了一个印度家庭与常染色体显性成人发病脱髓鞘性脑白质营养不良的多个成员影响了四代，并证明了一种廉价和准确的实时聚合酶链反应的分子方法来检测LMNB 1基因重复，这是这种毁灭性的疾病的遗传基础。
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.