{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["56(18)"],"submitter":["Daida K"],"pubmed_abstract":["We herein report the case of a 47-year-old female with the colony-stimulating factor 1 receptor (CSF1R) mutation p.G589R, which is related to hereditary leukoencephalopathy with axonal spheroid (HDLS). The patient presented with an early-onset cognitive decline and progressive aphasia. Brain magnetic resonance imaging revealed HDLS-related alterations. In addition, brain computed tomography revealed interspersed spotty calcifications in the frontal and parietal subcortical white matter, while a characteristic \"stepping stone\" appearance was observed in the frontal pericallosal regions. Our findings emphasize the importance of calcification appearances in establishing an HDLS diagnosis and in screening for CSF1R mutations."],"journal":["Internal medicine (Tokyo, Japan)"],"pagination":["2507-2512"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5643183"],"repository":["biostudies-literature"],"pubmed_title":["CSF1R Mutation p.G589R and the Distribution Pattern of Brain Calcification."],"pmcid":["PMC5643183"],"pubmed_authors":["Daida K","Li Y","Tanaka R","Nakajima S","Nishioka K","Hattori N"],"additional_accession":[]},"is_claimable":false,"name":"CSF1R Mutation p.G589R and the Distribution Pattern of Brain Calcification.","description":"We herein report the case of a 47-year-old female with the colony-stimulating factor 1 receptor (CSF1R) mutation p.G589R, which is related to hereditary leukoencephalopathy with axonal spheroid (HDLS). The patient presented with an early-onset cognitive decline and progressive aphasia. Brain magnetic resonance imaging revealed HDLS-related alterations. In addition, brain computed tomography revealed interspersed spotty calcifications in the frontal and parietal subcortical white matter, while a characteristic \"stepping stone\" appearance was observed in the frontal pericallosal regions. Our findings emphasize the importance of calcification appearances in establishing an HDLS diagnosis and in screening for CSF1R mutations.","dates":{"release":"2017-01-01T00:00:00Z","publication":"2017 Sep","modification":"2024-11-09T11:26:56.715Z","creation":"2019-03-27T02:59:05Z"},"accession":"S-EPMC5643183","cross_references":{"pubmed":["28824062"],"doi":["10.2169/internalmedicine.8462-16"]}}