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[Clinical and neuroimaging characteristics of patients with hereditary diffuse leukoencephalopathy with spheroids (HDLS)].

Rinsho shinkeigaku = Clinical neurology - 1 Jan 2014

Ikeuchi Takeshi

Abstract excerpt

Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is an autosomal dominant early-onset dementia that affects the cerebral white matter predominantly. Mutations in colony stimulating factor-1 receptor (CSF-1R) were identified as the genetic cause of HDLS, and this enabled the antemorterm diagnosis of HDLS by genetic testing. This review paper describes clinical and neuroimaging findings in...

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Atrophy
Corpus Callosum
Diagnosis, Differential
Leukoencephalopathies
Magnetic Resonance Imaging

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Receptor, Macrophage Colony-Stimulating Factor

Tomography, X-Ray Computed

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Identifiers

PMID: 25519969
DOI: 10.5692/clinicalneurol.54.1158

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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[Clinical and neuroimaging characteristics of patients with hereditary diffuse leukoencephalopathy with spheroids (HDLS)].PMID 25519969Read ↗

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

[Hereditary diffuse leukoencephalopathy with spheroids (HDLS): a review of the literature on its clinical characteristics and mutations in the colony-stimulating factor-1 receptor gene].Semantic proximity Read ↗

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Common neuropathological features underlie distinct clinical presentations in three siblings with hereditary diffuse leukoencephalopathy with spheroids caused by CSF1R p.Arg782His.Semantic proximity Read ↗

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Early involvement of the corpus callosum in a patient with hereditary diffuse leukoencephalopathy with spheroids carrying the de novo K793T mutation of CSF1R.Semantic proximity Read ↗

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