Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia linked CSF1R mutation: Report of four Korean cases
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia linked CSF1R mutation: Report of four Korean cases
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DOI：
10.1016/j.jns.2014.12.021
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发表时间：
2015-02-15
影响因子：
4.4
通讯作者：
Huh, Gi Yeong
中科院分区：
文献类型：
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作者：
Kim, Eun-Joo;Shin, Jin-Hong;Huh, Gi Yeong
我们详细描述了成人起病的轴突球形和色素胶质白质脑病(ALSP)的临床、生化、神经影像和神经病理学特征，包括遗传性弥漫性白质脑病伴轴突球形(HDLS)和与集落刺激因子1受体(CSF1R)突变相关的色素正色性脑白质营养不良(POLO)。临床、生化、神经影像和神经病理结果通过直接评估和先前的医疗记录获得。对2例尸检确诊的ALSP和2例疑似ALSP的患者进行了CSF1R基因的基因分析。我们发现了两个已知的突变：在一例尸检证实的HDLS和临床疑似ALSP的病例中发现了c.2342C>；T(p.A781V)，在另一例尸检证实的POLD病例中发现了c.2345G>；A(p.R782H)。我们还在一名患者身上发现了一种新的突变(c.2296A>；G；p.M766V)，患者表现为手部震颤、口吃和犹豫不决的言语，以及行为异常，其父亲可能死于脊髓小脑性共济失调。据我们所知，这是韩国第一例与ALSP相关的CSF1R突变，支持HDLS和FOLD是相同的疾病谱的说法，HDLS和FOLD的病理特征略有不同，但由CSF1R突变引起。(C)2014爱思唯尔B.V.保留所有权利。
We describe detailed clinical, biochemical, neuroimaging and neuropathological features in adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), encompassing hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLO), linked to colony-stimulating factor 1 receptor (CSF1R) mutations in four Korean cases. Clinical, biochemical, neuroimaging and neuropathological findings were obtained by direct evaluation and from previous medical records. The genetic analysis of the CSF1R gene was done in two autopsy-confirmed ALSP cases and two cases where ALSP was suspected based on the clinical and neuroimaging characteristics. We identified two known mutations: c.2342C>T (p.A781V) in one autopsy-proven HDLS and clinically ALSP-suspected case and c.2345G>A (p.R782H) in another autopsy-proven POLD case. We Also found a novel mutation (c.2296A>G; p.M766V) in a patient presenting with hand tremor, stuttering and hesitant speech, and abnormal behavior whose father died from a possible diagnosis of spinocerebellar ataxia. To the best of our knowledge, this is the first documented ALSP-linked CSF1R mutation in Korea and supports the suggestion that HDLS and FOLD, with pathological characteristics that are somewhat different but which are caused by CSF1R mutations, are the same spectrum of disease, ALSP. (C) 2014 Elsevier B.V. All rights reserved.