title: A new CSF1R mutation presenting with an extensive white matter lesion mimicking primary progressive multiple sclerosis.
abstract: HDLS (Hereditary Diffuse Leukodystrophy with Spheroids) is a hereditary leukodystrophy whose main clinical manifestations include parkinsonism, spasticity, and ataxia. Genetic defects in the colony-stimulating factor 1 receptor (CSF1R) gene have been reported in many HDLS cases. The present report describes a new missense mutation Arg777Gln involving exon 18 of the CSF1R gene in a sporadic patient presenting with tumor-like lesions mimicking primary progressive multiple sclerosis. The patient was initially diagnosed with a progressive variant of multiple sclerosis and received inadequate treatments. Although most HDLS cases have a positive family history, this disease should also be suspected in sporadic patients showing unusual white matter lesions at MRI.
authors.affiliation: Department of Neurology, Tokushima Hospital, National Hospital Organization, Tokushima, Japan. Electronic address: inuito@tokusima.hosp.go.jp.
authors.forename: Toshio
authors.initials: T
authors.lastname: Inui
authors.forename: Toshitaka
authors.initials: T
authors.lastname: Kawarai
authors.forename: Koji
authors.initials: K
authors.lastname: Fujita
authors.forename: Kazuyuki
authors.initials: K
authors.lastname: Kawamura
authors.forename: Takao
authors.initials: T
authors.lastname: Mitsui
authors.forename: Antonio
authors.initials: A
authors.lastname: Orlacchio
authors.forename: Masaki
authors.initials: M
authors.lastname: Kamada
authors.forename: Takashi
authors.initials: T
authors.lastname: Abe
authors.forename: Yuishin
authors.initials: Y
authors.lastname: Izumi
authors.forename: Ryuji
authors.initials: R
authors.lastname: Kaji
mesh_terms: D000328:Adult; D006801:Humans; D056784:Leukoencephalopathies / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D008297:Male; D020528:Multiple Sclerosis, Chronic Progressive / Q000175:diagnosis; D020125:Mutation, Missense / Q000235:genetics; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D016186:Receptor, Macrophage Colony-Stimulating Factor / Q000235:genetics*
chemical_list: D016186:Receptor, Macrophage Colony-Stimulating Factor
keywords: Colony stimulating factor 1 receptor gene; Differential diagnosis; Genotype–phenotype correlations; Hereditary diffuse leukoencephalopathy with spheroids; Primary progressive form of multiple sclerosis; White matter lesions