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Clinical features and genetic characteristics of hereditary diffuse leukoencephalopathy with spheroids due to CSF1R mutation: a case report and literature review

1 Jan 2020

Abstract excerpt

BACKGROUND: Hereditary diffuse leukoencephalopathy with spheroid (HDLS) is an autosomal dominant white matter disease characterized by adult-onset cognitive impairment, behavioral or emotional changes, paresis, Parkinsonism, and seizures. Mutations in the gene encoding colony-stimulating factor 1 receptor (CSF1R) have been identified as the cause of HDLS. METHODS: Detail medical history, clinical features and...

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Cerebrovascular and genetic disorders
Neuroinflammation and Neurodegeneration Mechanisms
RNA regulation and disease

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 32055602
DOI: 10.21037/atm.2019.12.17

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