A novel A792D mutation in the CSF1R gene causes hereditary diffuse leukoencephalopathy with axonal spheroids characterized by slow progression

A novel A792D mutation in the CSF1R gene causes hereditary diffuse leukoencephalopathy with axonal spheroids characterized by slow progression

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 epil...

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Bibliographic Details
Main Authors: Sakiho Ueda, Hirofumi Yamashita, Ryota Hikiami, Nobukatsu Sawamoto, Kunihiro Yoshida, Ryosuke Takahashi
Format: Article
Language:English
Published: Elsevier 2015-03-01
Series:eNeurologicalSci
Subjects:
Hereditary diffuse leukoencephalopathy with spheroids
HDLS
CSF1R
White matter disease
Autosomal dominant
Adult-onset cognitive impairment
A792D
Online Access:http://www.sciencedirect.com/science/article/pii/S2405650215000040

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http://www.sciencedirect.com/science/article/pii/S2405650215000040

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