{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["82(2)"],"submitter":["Konno T"],"pubmed_abstract":["<h4>Objective</h4>To clarify the genetic, clinicopathologic, and neuroimaging characteristics of patients with hereditary diffuse leukoencephalopathy with spheroids (HDLS) with the colony stimulating factor 1 receptor (CSF-1R) mutation.<h4>Methods</h4>We performed molecular genetic analysis of CSF-1R in patients with HDLS. Detailed clinical and neuroimaging findings were retrospectively investigated. Five patients were examined neuropathologically.<h4>Results</h4>We found 6 different CSF-1R mutations in 7 index patients from unrelated Japanese families. The CSF-1R mutations included 3 novel mutations and 1 known missense mutation at evolutionarily conserved amino acids, and 1 novel splice-site mutation. We identified a novel frameshift mutation. Reverse transcription PCR analysis revealed "],"journal":["Neurology"],"pagination":["139-48"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC3937843"],"repository":["biostudies-literature"],"pubmed_title":["Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS."],"pmcid":["PMC3937843"],"pubmed_authors":["Konno T","Kawamura M","Ishihara K","Okazaki K","Inuzuka T","Nishizawa M","Itoh K","Ikeuchi T","Nozaki H","Kakita A","Tada M","Matsunaga A","Koyama A","Yokoo H","Nishimiya J","Onodera O","Harigaya Y","Yoshikura N","Yoneda M","Arakawa M","Isami A","Takahashi H"],"additional_accession":[]},"is_claimable":false,"name":"Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS.","description":"<h4>Objective</h4>To clarify the genetic, clinicopathologic, and neuroimaging characteristics of patients with hereditary diffuse leukoencephalopathy with spheroids (HDLS) with the colony stimulating factor 1 receptor (CSF-1R) mutation.<h4>Methods</h4>We performed molecular genetic analysis of CSF-1R in patients with HDLS. Detailed clinical and neuroimaging findings were retrospectively investigated. Five patients were examined neuropathologically.<h4>Results</h4>We found 6 different CSF-1R mutations in 7 index patients from unrelated Japanese families. The CSF-1R mutations included 3 novel mutations and 1 known missense mutation at evolutionarily conserved amino acids, and 1 novel splice-site mutation. We identified a novel frameshift mutation. Reverse transcription PCR analysis revealed ","dates":{"release":"2014-01-01T00:00:00Z","publication":"2014 Jan","modification":"2026-06-07T08:22:05.317Z","creation":"2026-06-07T03:12:56.942Z"},"accession":"S-EPMC3937843","cross_references":{"pubmed":["24336230"],"doi":["10.1212/WNL.0000000000000046"]}}