biostudies-literatureUnknown82(2)Konno T<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 Neurology139-48https://www.ebi.ac.uk/biostudies/studies/S-EPMC3937843biostudies-literatureHaploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS.PMC3937843Konno TKawamura MIshihara KOkazaki KInuzuka TNishizawa MItoh KIkeuchi TNozaki HKakita ATada MMatsunaga AKoyama AYokoo HNishimiya JOnodera OHarigaya YYoshikura NYoneda MArakawa MIsami ATakahashi HfalseHaploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS.<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 2014-01-01T00:00:00Z2014 Jan2026-06-07T08:22:05.317Z2026-06-07T03:12:56.942ZS-EPMC39378432433623010.1212/WNL.0000000000000046