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Article

A family with hereditary diffuse leukoencephalopathy with spheroids caused by a novel c.2442+2T>C mutation in the CSF1R gene.

Journal of the neurological sciences - 15 Aug 2016

Kawakami Ito, Iseki Eizo, Kasanuki Koji, Minegishi Michiko, Sato Kiyoshi, Hino Hiroyuki, Shibuya Katsuhiko, Fujisawa Kohshiro, Higashi Shinji, Akiyama Haruhiko, Furuta Akiko, Takanashi Masashi, Li Yuanzhe, Hattori Nobutaka, Mitsuyama Yoshio, Arai Heii

Abstract excerpt

Clinical phenotypes of hereditary diffuse leukoencephalopathy with spheroids (HDLS), a familial progressive neurodegenerative disorder affecting the white matter of the brain, are heterogenous and may include behavioral and personality changes, memory impairment, parkinsonism, seizure, and spasticity. Thus, HDLS is frequently unrecognized and misdiagnosed. Heterozygous mutations located within the kinase domain...

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PMID: 27423618
DOI: 10.1016/j.jns.2016.06.013

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A family with hereditary diffuse leukoencephalopathy with spheroids caused by a novel c.2442+2T>C mutation in the CSF1R gene.PMID 27423618Read ↗

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