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The Occurrence of FUS Mutations in Pediatric Amyotrophic Lateral Sclerosis: A Case Report and Review of the Literature
- Source :
- Journal of child neurology. 35(8)
- Publication Year :
- 2020
-
Abstract
- Amyotrophic lateral sclerosis (ALS) is a progressive motor neuron disease affecting both upper and lower motor neurons and leading to progressive paralysis. Most cases are sporadic, and the symptoms generally begin in the sixth or seventh decade. Juvenile ALS appears in a rare subgroup of patients with onset before the age of 25 years old. Contrary to the classical adult phenotype where 90% of cases are sporadic, most cases of juvenile ALS are caused by a genetic mutation in either SOD1 (superoxide dismutase one), SETX (senataxin), or FUS (fused in sarcoma). In the pediatric population, ALS is more infrequent and rarely considered in the differential diagnosis. There are few reports of ALS in children. Here, we describe a 14-year-old boy with a very fast progressing classical ALS phenotype and tremor caused by a c.1554_1557delACAG mutation in FUS. Our review of the literature advocates that pediatric ALS is highly suggestive of FUS mutations and that gene should be tested in children presenting with symptoms of ALS. The children with FUS-related ALS may have no family history and present initially with learning disabilities, tremor, and mild motor developmental delay.
- Subjects :
- 0301 basic medicine
Male
Pediatrics
medicine.medical_specialty
Adolescent
SOD1
medicine.disease_cause
03 medical and health sciences
0302 clinical medicine
medicine
Humans
Family history
Amyotrophic lateral sclerosis
Mutation
business.industry
Superoxide Dismutase
Amyotrophic Lateral Sclerosis
DNA Helicases
medicine.disease
Phenotype
Multifunctional Enzymes
030104 developmental biology
Pediatrics, Perinatology and Child Health
RNA-Binding Protein FUS
Neurology (clinical)
Sarcoma
Differential diagnosis
business
030217 neurology & neurosurgery
RNA Helicases
Pediatric population
Subjects
Details
- ISSN :
- 17088283
- Volume :
- 35
- Issue :
- 8
- Database :
- OpenAIRE
- Journal :
- Journal of child neurology
- Accession number :
- edsair.doi.dedup.....fbf9ffbb7dbc38ec99697c193fc40bac