CSF1R mutation presenting as dementia with Lewy bodies

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish (US)
JournalNeurocase
DOIs
StatePublished - Jan 1 2019

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Lewy Body Disease
Mutation
Colony-Stimulating Factor Receptors
Leukoencephalopathies
Macrophage Colony-Stimulating Factor
Protein-Tyrosine Kinases
Phenotype
Genes
Dementia
Proteins

Keywords

  • CSF1R
  • dementia with Lewy body
  • MRI
  • parkinsonism
  • REM sleep behavior disorder

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology

Cite this

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title = "CSF1R mutation presenting as dementia with Lewy bodies",
abstract = "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.",
keywords = "CSF1R, dementia with Lewy body, MRI, parkinsonism, REM sleep behavior disorder",
author = "Rishi Sharma and Jonathan Graff-Radford and Rademakers, {Rosa V} and Boeve, {Bradley F} and Petersen, {Ronald Carl} and Jones, {David T}",
year = "2019",
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doi = "10.1080/13554794.2019.1601230",
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T1 - CSF1R mutation presenting as dementia with Lewy bodies

AU - Sharma, Rishi

AU - Graff-Radford, Jonathan

AU - Rademakers, Rosa V

AU - Boeve, Bradley F

AU - Petersen, Ronald Carl

AU - Jones, David T

PY - 2019/1/1

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N2 - 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.

AB - 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.

KW - CSF1R

KW - dementia with Lewy body

KW - MRI

KW - parkinsonism

KW - REM sleep behavior disorder

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