TY - JOUR
T1 - A new CSF1R mutation presenting with an extensive white matter lesion mimicking primary progressive multiple sclerosis
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
Y1 - 2013/11/15
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
UR - http://www.scopus.com/inward/record.url?scp=84887469798&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84887469798&partnerID=8YFLogxK
U2 - 10.1016/j.jns.2013.08.020
DO - 10.1016/j.jns.2013.08.020
M3 - Article
C2 - 24034409
AN - SCOPUS:84887469798
VL - 334
SP - 192
EP - 195
JO - Journal of the Neurological Sciences
JF - Journal of the Neurological Sciences
SN - 0022-510X
IS - 1-2
ER -