P525L FUS mutation is consistently associated with a severe form of juvenile Amyotrophic Lateral Sclerosis

被引：102

作者：

Conte, Amelia ^{[1
]}

Lattante, Serena ^{[2
]}

Zollino, Marcella ^{[2
]}

Marangi, Giuseppe ^{[2
]}

Luigetti, Marco ^{[1
]}

Del Grande, Alessandra ^{[1
]}

Servidei, Serenella ^{[1
]}

Trombetta, Federica ^{[3
]}

Sabatelli, Mario ^{[1
]}

机构：

[1] Univ Cattolica Sacro Cuore, Ist Neurol, I-00168 Rome, Italy

[2] Univ Cattolica Sacro Cuore, Ist Genet Med, I-00168 Rome, Italy

[3] Univ Cattolica Sacro Cuore, Ist Med Legale, I-00168 Rome, Italy

来源：

NEUROMUSCULAR DISORDERS | 2012年 / 22卷 / 01期

关键词：

Juvenile ALS; Prognosis; FUS gene; CYTOPLASMIC INCLUSIONS; FUS/TLS GENE;

D O I：

10.1016/j.nmd.2011.08.003

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Some FUS mutations have been observed in patients with the juvenile form of Amyotrophic Lateral Sclerosis starting before 25 years. We report an 11-year-old girl affected by sporadic juvenile ALS with a rapid course resulting in tracheostomy after 14 months from the onset. Sequencing FUS gene revealed a de novo P525L mutation. Our findings, together with literature data, indicate that this mutation is consistently associated with a specific phenotype characterized by juvenile onset, severe course and high proportion of de novo mutations in sporadic cases. (C) 2011 Elsevier B.V. All rights reserved.

引用

页码：73 / 75

页数：3

共 19 条

[1] Basophilic cytoplasmic inclusions in a case of sporadic juvenile amyotrophic lateral sclerosis [J].

Aizawa, H ;

Kimura, T ;

Hashimoto, K ;

Yahara, O ;

Okamoto, K ;

Kikuchi, K .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 2000, 176 (02) :109-113

[2] 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

[3]

Ben Hamida M, 2000, AMYOTROPHIC LATERAL, P59

[4] Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation [J].

Chio, Adriano ;

Restagno, Gabriella ;

Brunetti, Maura ;

Ossola, Irene ;

Calvo, Andrea ;

Mora, Gabriele ;

Sabatelli, Mario ;

Monsurro, Maria Rosaria ;

Battistini, Stefania ;

Mandrioli, Jessica ;

Salvi, Fabrizio ;

Spataro, Rossella ;

Schymick, Jennifer ;

Traynor, Bryan J. ;

La Bella, Vincenzo .

NEUROBIOLOGY OF AGING, 2009, 30 (08) :1272-1275

[5] Mutations of FUS gene in sporadic amyotrophic lateral sclerosis [J].

Corrado, Lucia ;

Del Bo, Roberto ;

Castellotti, Barbara ;

Ratti, Antonia ;

Cereda, Cristina ;

Penco, Silvana ;

Soraru, Gianni ;

Carlomagno, Yari ;

Ghezzi, Serena ;

Pensato, Viviana ;

Colombrita, Claudia ;

Gagliardi, Stella ;

Cozzi, Lorena ;

Orsetti, Valeria ;

Mancuso, Michelangelo ;

Siciliano, Gabriele ;

Mazzini, Letizia ;

Comi, Giacomo Pietro ;

Gellera, Cinzia ;

Ceroni, Mauro ;

D'Alfonso, Sandra ;

Silani, Vincenzo .

JOURNAL OF MEDICAL GENETICS, 2010, 47 (03) :190-194

[6] De Novo Truncating FUS Gene Mutation as a Cause of Sporadic Amyotrophic Lateral Sclerosis [J].

DeJesus-Hernandez, Mariely ;

Kocerha, Jannet ;

Finch, NiCole ;

Crook, Richard ;

Baker, Matt ;

Desaro, Pamela ;

Johnston, Amelia ;

Rutherford, Nicola ;

Wojtas, Aleksandra ;

Kennelly, Kathleen ;

Wszolek, Zbigniew K. ;

Graff-Radford, Neill ;

Boylan, Kevin ;

Rademakers, Rosa .

HUMAN MUTATION, 2010, 31 (05) :E1377-E1389

[7] Young-onset sporadic amyotrophic lateral sclerosis: A distinct nosological entity? [J].

Gouveia, Liliana Olim ;

de Carvalho, Mamede .

AMYOTROPHIC LATERAL SCLEROSIS, 2007, 8 (06) :323-327

[8]

Huang EJ, 2010, BRAIN PATHOL, V20, P1069, DOI 10.1111/j.1750-3639.2010.00413.x

[9] Nuclear Transport Impairment of Amyotrophic Lateral Sclerosis-Linked Mutations in FUS/TLS [J].

Ito, Daisuke ;

Seki, Morinobu ;

Tsunoda, Yoshiko ;

Uchiyama, Hidemi ;

Suzuki, Norihiro .

ANNALS OF NEUROLOGY, 2011, 69 (01) :152-162

[10] Optineurin is co-localized with FUS in basophilic inclusions of ALS with FUS mutation and in basophilic inclusion body disease [J].

Ito, Hidefumi ;

Fujita, Kengo ;

Nakamura, Masataka ;

Wate, Reika ;

Kaneko, Satoshi ;

Sasaki, Shoichi ;

Yamane, Kiyomi ;

Suzuki, Naoki ;

Aoki, Masashi ;

Shibata, Noriyuki ;

Togashi, Shinji ;

Kawata, Akihiro ;

Mochizuki, Yoko ;

Mizutani, Toshio ;

Maruyama, Hirofumi ;

Hirano, Asao ;

Takahashi, Ryosuke ;

Kawakami, Hideshi ;

Kusaka, Hirofumi .

ACTA NEUROPATHOLOGICA, 2011, 121 (04) :555-557

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