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

doi:10.1016/j.jns.2013.08.020

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

Fondazione Santa Lucia

Research output: Contribution to journal › Article › peer-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 language	English
Pages (from-to)	192-195
Number of pages	4
Journal	Journal of the Neurological Sciences
Volume	334
Issue number	1-2
DOIs	https://doi.org/10.1016/j.jns.2013.08.020
Publication status	Published - 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

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A new CSF1R mutation presenting with an extensive white matter lesion mimicking primary progressive multiple sclerosis. / Inui, Toshio; Kawarai, Toshitaka; Fujita, Koji; Kawamura, Kazuyuki; Mitsui, Takao; Orlacchio, Antonio; Kamada, Masaki; Abe, Takashi; Izumi, Yuishin; Kaji, Ryuji.

In: Journal of the Neurological Sciences, Vol. 334, No. 1-2, 15.11.2013, p. 192-195.

Research output: Contribution to journal › Article › peer-review

Inui, Toshio ; Kawarai, Toshitaka ; Fujita, Koji ; Kawamura, Kazuyuki ; Mitsui, Takao ; Orlacchio, Antonio ; Kamada, Masaki ; Abe, Takashi ; Izumi, Yuishin ; Kaji, Ryuji. / A new CSF1R mutation presenting with an extensive white matter lesion mimicking primary progressive multiple sclerosis. In: Journal of the Neurological Sciences. 2013 ; Vol. 334, No. 1-2. pp. 192-195.

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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.",

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",

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

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AU - Inui, Toshio

AU - Kawarai, Toshitaka

AU - Fujita, Koji

AU - Kawamura, Kazuyuki

AU - Mitsui, Takao

AU - Orlacchio, Antonio

AU - Kamada, Masaki

AU - Abe, Takashi

AU - Izumi, Yuishin

AU - Kaji, Ryuji

PY - 2013/11/15

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N2 - 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.

AB - 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.

KW - Colony stimulating factor 1 receptor gene

KW - Differential diagnosis

KW - Genotype-phenotype correlations

KW - Hereditary diffuse leukoencephalopathy with spheroids

KW - Primary progressive form of multiple sclerosis

KW - White matter lesions

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

Abstract

Keywords

ASJC Scopus subject areas

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