A rare case of juvenile amyotrophic lateral sclerosis

被引：4

作者：

Bodur, Muhittin ^{[1
]}

Toker, Rabia Tutuncu ^{[1
]}

Basak, Ayse Nazli ^{[2
]}

Okan, Mehmet Sait ^{[1
]}

机构：

[1] Uludag Univ, Dept Pediat, Fac Med, Div Pediat Neurol, Bursa, Turkey

[2] Koc Univ, Translat Med Res Ctr, Sch Med, Neurodegenerat Res Lab,Suna & Inan Kirac Fdn, Istanbul, Turkey

来源：

TURKISH JOURNAL OF PEDIATRICS | 2021年 / 63卷 / 03期

关键词：

juvenile amyotrophic lateral sclerosis; FUS gene; FUS; DIAGNOSIS; CRITERIA;

D O I：

10.24953/turkjped.2021.03.017

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Background. Amyotrophic lateral sclerosis (ALS) is a chronic motor neuron disease characterised by progressive weakness in striated muscles resulting from the destruction of neuronal cells. The term juvenile ALS (JALS) is used for patients whose symptoms start before 25 years of age. JALS may be sporadic or familial. Case. Here, we present a sporadic case of JALS because of its rarity in children. The heterozygous p.Pro525Leu (c.1574C>T) variation was identified in the fused in sarcoma (FUS) gene. Conclusion. The p.Pro525Leu mutation in the FUS gene has been detected in patients with ALS, characterised by early onset and a severely progressive course.

引用

页码：495 / 499

页数：5

共 20 条

[1] Juvenile amyotrophic lateral sclerosis [J].

Anju Aggarwal .

The Indian Journal of Pediatrics, 2006, 73 (3) :225-226

[2] El Escorial revisited: Revised criteria for the diagnosis of amyotrophic lateral sclerosis [J].

Brooks, BR ;

Miller, RG ;

Swash, M ;

Munsat, TL .

AMYOTROPHIC LATERAL SCLEROSIS AND OTHER MOTOR NEURON DISORDERS, 2000, 1 (05) :293-299

[3] EL-ESCORIAL WORLD FEDERATION OF NEUROLOGY CRITERIA FOR THE DIAGNOSIS OF AMYOTROPHIC-LATERAL-SCLEROSIS [J].

BROOKS, BR .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 1994, 124 :96-107

[4] Novel genes associated with amyotrophic lateral sclerosis: diagnostic and clinical implications [J].

Chia, Ruth ;

Chio, Adriano ;

Traynor, Bryan J. .

LANCET NEUROLOGY, 2018, 17 (01) :94-102

[5] Risk factors in the early diagnosis of ALS:: European epidemiological studies [J].

Chiò, A .

AMYOTROPHIC LATERAL SCLEROSIS, 2000, 1 :S13-S18

[6] 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

[7] P525L FUS mutation is consistently associated with a severe form of juvenile Amyotrophic Lateral Sclerosis [J].

Conte, Amelia ;

Lattante, Serena ;

Zollino, Marcella ;

Marangi, Giuseppe ;

Luigetti, Marco ;

Del Grande, Alessandra ;

Servidei, Serenella ;

Trombetta, Federica ;

Sabatelli, Mario .

NEUROMUSCULAR DISORDERS, 2012, 22 (01) :73-75

[8]

Emery A E, 1982, Adv Neurol, V36, P139

[9]

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

[10] Electrodiagnosis in Persons With Amyotrophic Lateral Sclerosis [J].

Joyce, Nanette C. ;

Carter, Gregory T. .

PM&R, 2013, 5 (05) :S89-S95

← 1 2 →