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Title: A novel A792D mutation in the CSF1R gene causes hereditary diffuse leukoencephalopathy with axonal spheroids characterized by slow progression
Authors: Ueda, Sakiho
Yamashita, Hirofumi
Hikiami, Ryota
Sawamoto, Nobukatsu  kyouindb  KAKEN_id
Yoshida, Kunihiro
Takahashi, Ryosuke  kyouindb  KAKEN_id
Author's alias: 山下, 博史
Keywords: Hereditary diffuse leukoencephalopathy with spheroids
White matter disease
Autosomal dominant
Adult-onset cognitive impairment
Issue Date: Mar-2015
Publisher: Elsevier B.V.
Journal title: eNeurologicalSci
Volume: 1
Issue: 1
Start page: 7
End page: 9
Abstract: Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is an autosomal dominant white matter disease that causes adult-onset cognitive impairment. The clinical manifestations are a variable combination of personality and behavioral changes, cognitive decline, parkinsonism, spasticity, and epilepsy. In 2012, mutations in the gene encoding colony stimulating factor 1 receptor (CSF1R) were identified as the cause of HDLS. As the numbers of reported mutations are limited, the understanding of whole pathogenesis needs accumulation of disease-causing mutations with detailed clinical descriptions. We describe a Japanese family with autosomal dominant adult-onset cognitive impairment and characteristic white matter lesions. Genetic testing revealed a novel p.A792D mutation in the tyrosine kinase domain of CSF1R in two affected family members. The symptom profile of the present cases mostly matched the previously reported cases, with the notable exceptions of late-onset and long disease duration.
Rights: c 2015 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license (
DOI(Published Version): 10.1016/j.ensci.2015.07.001
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