A family with hereditary diffuse leukoencephalopathy with spheroids caused by a novel c.2442 + 2T > C mutation in the CSF1R gene
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- 作者：Ito Kawakamia ; b ; c ; kawakami-it@igakuken.or.jp" class="auth_mail" title="E-mail the corresponding author ; Eizo Isekia ; d ; iseki@juntendo.gmc.ac.jp" class="auth_mail" title="E-mail the corresponding author ; Koji Kasanukia ; d ; Michiko Minegishia ; Kiyoshi Satoa ; Hiroyuki Hinob ; Katsuhiko Shibuyab ; Kohshiro Fujisawab ; Shinji Higashic ; Haruhiko Akiyamac ; Akiko Furutad ; Masashi Takanashie ; Yuanzhe Lie ; Nobutaka Hattorie ; Yoshio Mitsuyamaf ; Heii Araid
- 关键词：Axonal spheroid ; CSF1R ; HDLS ; Leukoencephalopathy
- 刊名：Journal of the Neurological Sciences
- 出版年：2016
- 出版时间：15 August 2016
- 年：2016
- 卷：367
- 期：Complete
- 页码：349-355
- 全文大小：1201 K
文摘
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We identified a novel CSF1R splice site mutation (c.2442 + 2T > C) in intron 18 in a Japanese family.
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We detected atypical neuropathological findings in the frontal cortex and hippocampus, in addition to typical findings in HDLS.
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Our results provide further evidence for the CSF1R mutation heterogeneity.