Sporadic Amyotrophic Lateral Sclerosis Due to a FUS P525L Mutation with Asymmetric Muscle Weakness and Anti-ganglioside Antibodies

被引：3

作者：

Tanemoto, Masanobu ^{[1
]}

Hisahara, Shin ^{[1
]}

Ikeda, Kazuna ^{[1
]}

Yokokawa, Kazuki ^{[1
]}

Manabe, Tatsuo ^{[1
]}

Tsuda, Reiko ^{[1
]}

Yamamoto, Daisuke ^{[1
]}

Matsushita, Takashi ^{[1
]}

Matsumura, Akihiro ^{[1
]}

Suzuki, Syuuichirou ^{[1
]}

Shimohama, Shun ^{[1
]}

机构：

[1] Sapporo Med Univ, Sch Med, Dept Neurol, Sapporo, Hokkaido, Japan

来源：

INTERNAL MEDICINE | 2021年 / 60卷 / 12期

关键词：

amyotrophic lateral sclerosis; fused in sarcoma; FUS; P525L mutation; anti-ganglioside antibody; GUILLAIN-BARRE-SYNDROME; ALS; GANGLIOSIDE; SYSTEM; NERVE;

D O I：

10.2169/internalmedicine.6168-20

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Amyotrophic lateral sclerosis (ALS) due to a fused in sarcoma (FUS) P525L mutation is characterized by a rapidly progressive course. Multifocal motor neuropathy (MMN) may resemble ALS in early stage and is associated with anti-ganglioside antibodies. A 38-year-old woman was admitted to our hospital because of progressive muscle weakness in the right limbs. She had mild mental retardation and minor deformities. Initially, we suspected MMN given the asymmetric muscle weakness and detection of anti-ganglioside antibodies. However, physical and electrophysiological tests did not support MMN, instead suggesting ALS. We confirmed a heterozygous P525L mutation and finally diagnosed this case as ALS due to an FUS mutation.

引用

页码：1949 / 1953

页数：5

共 34 条

[1] Genotype-phenotype relationships in familial amyotrophic lateral sclerosis with FUS/TLS mutations in Japan [J].

Akiyama, Tetsuya ;

Warita, Hitoshi ;

Kato, Masaaki ;

Nishiyama, Ayumi ;

Izumi, Rumiko ;

Ikeda, Chikako ;

Kamada, Masaki ;

Suzuki, Naoki ;

Aoki, Masashi .

MUSCLE & NERVE, 2016, 54 (03) :398-404

[2] Antiganglioside antibodies in paraneoplastic peripheral neuropathies [J].

Antoine, JC ;

Camdessanché, JP ;

Ferraud, K ;

Caudie, C .

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2004, 75 (12) :1765-1767

[3] Pathogenic Role of Ganglioside Metabolism in Neurodegenerative Diseases [J].

Ariga, Toshio .

JOURNAL OF NEUROSCIENCE RESEARCH, 2014, 92 (10) :1227-1242

[4] Juvenile ALS with basophilic inclusions is a FUS proteinopathy with FUS mutations [J].

Baeumer, D. ;

Hilton, D. ;

Paine, S. M. L. ;

Turner, M. R. ;

Lowe, J. ;

Talbot, K. ;

Ansorge, O. .

NEUROLOGY, 2010, 75 (07) :611-618

[5] Lysosomal and phagocytic activity is increased in astrocytes during disease progression in the SOD1 G93A mouse model of amyotrophic lateral sclerosis [J].

Baker, David J. ;

Blackburn, Daniel J. ;

Keatinge, Marcus ;

Sokhi, Dilraj ;

Viskaitis, Paulius ;

Heath, Paul R. ;

Ferraiuolo, Laura ;

Kirby, Janine ;

Shaw, Pamela J. .

FRONTIERS IN CELLULAR NEUROSCIENCE, 2015, 9

[6] Correlates of outcome and response to IVIg in 88 patients with multifocal motor neuropathy [J].

Cats, E. A. ;

van der Pol, W. -L. ;

Piepers, S. ;

Franssen, H. ;

Jacobs, B. C. ;

van den Berg-Vos, R. M. ;

Kuks, J. B. ;

van Doorn, P. A. ;

van Engelen, B. G. ;

Verschuuren, J. J. ;

Wokke, J. H. ;

Veldink, J. H. ;

van den Berg, L. H. .

NEUROLOGY, 2010, 75 (09) :818-825

[7] Glycosphingolipids are modulators of disease pathogenesis in amyotrophic lateral sclerosis [J].

Dodge, James C. ;

Treleaven, Christopher M. ;

Pacheco, Joshua ;

Cooper, Samantha ;

Bao, Channa ;

Abraham, Marissa ;

Cromwell, Mandy ;

Sardi, S. Pablo ;

Chuang, Wei-Lien ;

Sidman, Richard L. ;

Cheng, Seng H. ;

Shihabuddin, Lamya S. .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2015, 112 (26) :8100-8105

[8] A juvenile sporadic amyotrophic lateral sclerosis case with P525L mutation in the FUS gene: A rare co -occurrence of autism spectrum disorder and tremor [J].

Eura, Nobuyuki ;

Sugie, Kazuma ;

Suzuki, Naoki ;

Kiriyama, Takao ;

Izumi, Tesseki ;

Shimakura, Naoko ;

Kato, Masaaki ;

Aoki, Masashi .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 2019, 398 :67-68

[9] FUS Mutations in Familial Amyotrophic Lateral Sclerosis in the Netherlands [J].

Groen, Ewout J. N. ;

van Es, Michael A. ;

van Vught, Paul W. J. ;

Spliet, Wim G. M. ;

van Engelen-Lee, Jooyeon ;

de Visser, Marianne ;

Wokke, John H. J. ;

Schelhaas, Helenius J. ;

Ophoff, Roel A. ;

Fumoto, Katsumi ;

Pasterkamp, R. Jeroen ;

Dooijes, Dennis ;

Cuppen, Edwin ;

Veldink, Jan H. ;

van den Berg, Leonard H. .

ARCHIVES OF NEUROLOGY, 2010, 67 (02) :224-230

[10] Recruitment of the mitochondrial-dependent apoptotic pathway in amyotrophic lateral sclerosis [J].

Guégn, C ;

Vila, M ;

Rosoklija, G ;

Hays, AP ;

Przedborski, S .

JOURNAL OF NEUROSCIENCE, 2001, 21 (17) :6569-6576

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