A new CSF1R mutation presenting with an extensive white matter lesion mimicking primary progressive multiple sclerosis

Toshio Inui, Toshitaka Kawarai, Koji Fujita, Kazuyuki Kawamura, Takao Mitsui, Antonio Orlacchio, Masaki Kamada, Takashi Abe, Yuishin Izumi, Ryuji Kaji

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)192-195
Number of pages4
JournalJournal of the Neurological Sciences
Volume334
Issue number1-2
DOIs
Publication statusPublished - Nov 15 2013

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

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Fingerprint Dive into the research topics of 'A new CSF1R mutation presenting with an extensive white matter lesion mimicking primary progressive multiple sclerosis'. Together they form a unique fingerprint.

Cite this