Sporadic Japanese case of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia caused by a de novo p.Phe849del mutation in CSF1R.
Sporadic Japanese case of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia caused by a de novo p.Phe849del mutation in CSF1R.
复制标题
日本散发性成人发病白质脑病，伴有轴突球体和色素神经胶质细胞，由 CSF1R 中的 p.Phe849del 新突变引起。
DOI：
10.1111/ncn3.12367
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发表时间：
2020
期刊：
影响因子：
--
通讯作者：
Ohyagi Y
中科院分区：
文献类型：
--
作者：
Senzaki S;Miura S;Ochi M;Kato T;Okada T;Matsumoto S;Shiraoka A;Ochi H;Igase M;Kitazawa R;Zhu B;Ikeuchi T;Ohyagi Y
成人发病的轴突球体和色素性胶质细胞白质脑病 (ALSP) 是一种由集落刺激因子 1 受体 (CSF1R) 基因突变引起的常染色体显性神经退行性疾病。我们在此报告了日本首例由 CSF1R 中 p.Phe849del 新突变引起的 ALSP 病例：一名 44 岁男性，出现胼胝体断开症状。脑 MRI 显示侧脑室扩张、脑室周围白质高信号以及胼胝体变薄并在 T2 加权和 FLAIR 图像上出现高信号。脑单光子发射计算机断层扫描（SPECT）显示胼胝体前部灌注不足。 MRI 中的白质病变和 SPECT 中的灌注不足随着年龄的增长而增加。 44 岁时的脑活检显示轴突球体。胼胝体断开症状和胼胝体前部灌注不足可能是 ALSP 的重要指标，尤其是由 p.Phe849delCSF1R 突变引起时。
Adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is an autosomal dominant neurodegenerative disorder caused by mutations in the colony‐stimulating factor 1 receptor (CSF1R) gene. We, herein, report the first Japanese case of ALSP caused by a de novo p.Phe849del mutation inCSF1R: a 44‐year‐old man who presented callosal disconnection symptoms. Brain MRI revealed dilation of the lateral ventricles, periventricular white matter hyperintensities, and thinning of the corpus callosum with hyperintensities on T2‐weighted and FLAIR images. Brain single photon emission computed tomography (SPECT) showed hypoperfusion in the anterior corpus callosum. White matter lesions in MRI and hypoperfusion in SPECT increased with age. A brain biopsy at 44 years revealed axonal spheroids. Callosal disconnection symptoms and hypoperfusion in the anterior corpus callosum may be important indicators of ALSP, especially when caused by a p.Phe849delCSF1Rmutation.