Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
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Target Concepts:
Gene/Protein
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Query: UMLS:C0752347 (
Dementia with Lewy bodies
)
1,653
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is an adult-onset autosomal dominant leukoencephalopathy resulting from mutations affecting the tyrosine kinase domain of the colony stimulating factor receptor 1 protein (encoded by
CSF1R
). The clinical phenotypes reported with
CSF1R
mutations are variable. We present a case of a patient with a pathogenic variant in the
CSF1R
gene with clinical and imaging features suggestive of
Dementia with Lewy Bodies
(
DLB
). This case expands the known clinical presentations associated with
CSF1R
mutations.
...
PMID:CSF1R mutation presenting as dementia with Lewy bodies. 3096 32
