Identification of a de novo splicing mutation in the CSF1R gene in a Chinese patient with hereditary diffuse leukoencephalopathy with spheroids.

doi:10.1007/s10072-021-05755-5

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Article

Identification of a de novo splicing mutation in the CSF1R gene in a Chinese patient with hereditary diffuse leukoencephalopathy with spheroids.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 May 2022

Wu Xinwei, Sun Congcong, Wang Xingbang, Liu Ying, Wu Wei, Jia Guoyong

Abstract excerpt

OBJECTIVE: To report a de novo splicing mutation in the CSF1R gene in a patient with hereditary diffuse leukoencephalopathy with spheroids (HDLS). METHODS: A 42-year-old Chinese woman with constant weakness on her left lower extremity was recruited in the current study. Detail medical history and clinical characteristics were reviewed. Brain magnetic resonance imaging (MRI), whole-exome sequencing, and Sanger...

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PMID: 34791569
DOI: 10.1007/s10072-021-05755-5
PMCID: PMC9018673

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