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

被引：28

作者：

Inui, Toshio ^{[1
]}

Kawarai, Toshitaka ^{[2
]}

Fujita, Koji ^{[2
]}

Kawamura, Kazuyuki ^{[1
]}

Mitsui, Takao ^{[1
]}

Orlacchio, Antonio ^{[3
,4
]}

Kamada, Masaki ^{[5
]}

Abe, Takashi ^{[6
]}

Izumi, Yuishin ^{[2
]}

Kaji, Ryuji ^{[2
]}

机构：

[1] Natl Hosp Org, Tokushima Hosp, Dept Neurol, Tokushima, Japan

[2] Univ Tokushima, Grad Sch, Inst Hlth Biosci, Dept Clin Neurosci, Tokushima 7700042, Japan

[3] CERC IRCCS Santa Lucia, Neurogenet Lab, Rome, Italy

[4] Univ Roma Tor Vergata, Dipartimento Med Sistemi, Rome, Italy

[5] Kagawa Univ, Fac Med, Dept Neurol Intractable Dis Res, Takamatsu, Kagawa 760, Japan

[6] Univ Tokushima, Grad Sch Med, Inst Hlth Biosci, Dept Radiol, Tokushima 7700042, Japan

来源：

JOURNAL OF THE NEUROLOGICAL SCIENCES | 2013年 / 334卷 / 1-2期

关键词：

Hereditary diffuse leukoencephalopathy with spheroids; Colony stimulating factor 1 receptor gene; White matter lesions; Primary progressive form of multiple sclerosis; Differential diagnosis; Genotype-phenotype correlations; HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY; DISEASE;

D O I：

10.1016/j.jns.2013.08.020

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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. (C) 2013 Elsevier B.V. All rights reserved.

引用

页码：192 / 195

页数：4

共 11 条

[1] A method and server for predicting damaging missense mutations [J].

Adzhubei, Ivan A. ;

Schmidt, Steffen ;

Peshkin, Leonid ;

Ramensky, Vasily E. ;

Gerasimova, Anna ;

Bork, Peer ;

Kondrashov, Alexey S. ;

Sunyaev, Shamil R. .

NATURE METHODS, 2010, 7 (04) :248-249

[2] Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease [J].

Hara, Kenju ;

Shiga, Atsushi ;

Fukutake, Toshio ;

Nozaki, Hiroaki ;

Miyashita, Akinori ;

Yokoseki, Akio ;

Kawata, Hirotoshi ;

Koyama, Akihide ;

Arima, Kunimasa ;

Takahashi, Toshiaki ;

Ikeda, Mari ;

Shiota, Hiroshi ;

Tamura, Masato ;

Shimoe, Yutaka ;

Hirayama, Mikio ;

Arisato, Takayo ;

Yanagawa, Sohei ;

Tanaka, Akira ;

Nakano, Imaharu ;

Ikeda, Shu-ichi ;

Yoshida, Yutaka ;

Yamamoto, Tadashi ;

Ikeuchi, Takeshi ;

Kuwano, Ryozo ;

Nishizawa, Masatoyo ;

Tsuji, Shoji ;

Onodera, Osamu .

NEW ENGLAND JOURNAL OF MEDICINE, 2009, 360 (17) :1729-1739

[3] Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia [J].

Joutel, A ;

Corpechot, C ;

Ducros, A ;

Vahedi, K ;

Chabriat, H ;

Mouton, P ;

Alamowitch, S ;

Domenga, V ;

Cecillion, M ;

Marechal, E ;

Maciazek, J ;

Vayssiere, C ;

Cruaud, C ;

Cabanis, EA ;

Ruchoux, MM ;

Weissenbach, J ;

Bach, JF ;

Bousser, MG ;

TournierLasserve, E .

NATURE, 1996, 383 (6602) :707-710

[4] Diagnostic algorithm for the differentiation of leukodystrophies in early MS [J].

Koehler, Wolfgang .

JOURNAL OF NEUROLOGY, 2008, 255 (Suppl 6) :123-126

[5] Early Involvement of the Corpus Callosum in a Patient with Hereditary Diffuse Leukoencephalopathy with Spheroids Carrying the de novo K793T Mutation of CSF1R [J].

Kondo, Yasufumi ;

Kinoshita, Michiaki ;

Fukushima, Kazuhiro ;

Yoshida, Kunihiro ;

Ikeda, Shu-ichi .

INTERNAL MEDICINE, 2013, 52 (04) :503-506

[6] CSF1R Mutations Identified in Three Families With Autosomal Dominantly Inherited Leukoencephalopathy [J].

Mitsui, Jun ;

Matsukawa, Takashi ;

Ishiura, Hiroyuki ;

Higasa, Koichiro ;

Yoshimura, Jun ;

Saito, Taro L. ;

Ahsan, Budrul ;

Takahashi, Yuji ;

Goto, Jun ;

Iwata, Atsushi ;

Niimi, Yuki ;

Riku, Yuuichi ;

Goto, Yoji ;

Mano, Kazuo ;

Yoshida, Mari ;

Morishita, Shinichi ;

Tsuji, Shoji .

AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 2012, 159B (08) :951-957

[7] Predicting deleterious amino acid substitutions [J].

Ng, PC ;

Henikoff, S .

GENOME RESEARCH, 2001, 11 (05) :863-874

[8] Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids [J].

Rademakers, Rosa ;

Baker, Matt ;

Nicholson, Alexandra M. ;

Rutherford, Nicola J. ;

Finch, NiCole ;

Soto-Ortolaza, Alexandra ;

Lash, Jennifer ;

Wider, Christian ;

Wojtas, Aleksandra ;

DeJesus-Hernandez, Mariely ;

Adamson, Jennifer ;

Kouri, Naomi ;

Sundal, Christina ;

Shuster, Elizabeth A. ;

Aasly, Jan ;

MacKenzie, James ;

Roeber, Sigrun ;

Kretzschmar, Hans A. ;

Boeve, Bradley F. ;

Knopman, David S. ;

Petersen, Ronald C. ;

Cairns, Nigel J. ;

Ghetti, Bernardino ;

Spina, Salvatore ;

Garbern, James ;

Tselis, Alexandros C. ;

Uitti, Ryan ;

Das, Pritam ;

Van Gerpen, Jay A. ;

Meschia, James F. ;

Levy, Shawn ;

Broderick, Daniel F. ;

Graff-Radford, Neill ;

Ross, Owen A. ;

Miller, Bradley B. ;

Swerdlow, Russell H. ;

Dickson, Dennis W. ;

Wszolek, Zbigniew K. .

NATURE GENETICS, 2012, 44 (02) :200-205

[9] A case of hereditary diffuse leukoencephalopathy with axonal spheroids caused by a de novo mutation in CSF1R masquerading as primary progressive multiple sclerosis [J].

Saitoh, Ban-yu ;

Yamasaki, Ryo ;

Hayashi, Shintaro ;

Yoshimura, Satoshi ;

Tateishi, Takahisa ;

Ohyagi, Yasumasa ;

Murai, Hiroyuki ;

Iwaki, Toru ;

Yoshida, Kunihiro ;

Kira, Jun-ichi .

MULTIPLE SCLEROSIS JOURNAL, 2013, 19 (10) :1367-1370

[10] MutationTaster evaluates disease-causing potential of sequence alterations [J].

Schwarz, Jana Marie ;

Roedelsperger, Christian ;

Schuelke, Markus ;

Seelow, Dominik .

NATURE METHODS, 2010, 7 (08) :575-576

← 1 2 →