FUS-ALS presenting with myoclonic jerks in a 17-year-old man

Dodd, Katherine; Power, Rachael; Ealing, John; Hamdalla, Hisham

doi:10.1080/21678421.2019.1582665

Cited by 14 publications

(13 citation statements)

References 9 publications

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“…Myoclonus with generalized spikewave discharges have been recently described in a boy with FUS-ALS at 17 years of age. 13 Tremor is another peculiar feature observed in some FUSrelated pediatric ALS. The case described here had highfrequency postural tremor observed in the middle course of the disease.…”

Section: Pediatric Amyotrophic Lateral Sclerosismentioning

confidence: 99%

The Occurrence of FUS Mutations in Pediatric Amyotrophic Lateral Sclerosis: A Case Report and Review of the Literature

et al. 2020

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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.

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Section: Pediatric Amyotrophic Lateral Sclerosismentioning

confidence: 99%

The Occurrence of FUS Mutations in Pediatric Amyotrophic Lateral Sclerosis: A Case Report and Review of the Literature

et al. 2020

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“…Most patients with FUS mutations show a typical ALS phenotype, but some patients display a variety of accompanying symptoms including parkinsonism‐like symptoms (Yan et al, 2010), myoclonic jerks (Dodd, Power, Ealing, & Hamdalla, 2019), and peripheral neuropathy (Mackenzie et al, 2011). Among the FUS mutations, p.P525L mutation as a hot spot variant has been reported in more than 20 patients with ALS.…”

Section: Introductionmentioning

confidence: 99%

FUS P525L mutation causing amyotrophic lateral sclerosis and movement disorders

et al. 2020

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“…Intellectual deterioration has been reported in a few cases of FUS-ALS, including frontal lobe atrophy and hypoperfusion on functional Magnetic Resonance Imaging (fMRI) imaging [ 12 , 13 ]. Movement disorders including myoclonic jerks [ 14 ], tremors [ 15 , 16 ], and a case with dysphonia and diplopia [ 17 ] have been associated with FUS-JALS. Electrodiagnostic findings are typical of a motor neuronopathy, with evidence of active denervation in the presence of more chronic neurogenic findings and no sensory abnormalities.…”

Section: Resultsmentioning

confidence: 99%

“…Serine palmitoyltransferase, long-chain base subunit 1 (SPTLC1) gene mutations have been associated with JALS [57,58]. SPTLC1-JALS onset is within the first and second decades (range of [4][5][6][7][8][9][10][11][12][13][14][15]. The initial clinical presentation is early onset spasticity and toe walking, followed by LMN degeneration including bulbar involvement.…”

Section: Sptlc1mentioning

confidence: 99%

Juvenile Amyotrophic Lateral Sclerosis: A Review

Lehky

2021

Genes

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Juvenile amyotrophic lateral sclerosis (JALS) is a rare group of motor neuron disorders with gene association in 40% of cases. JALS is defined as onset before age 25. We conducted a literature review of JALS and gene mutations associated with JALS. Results of the literature review show that the most common gene mutations associated with JALS are FUS, SETX, and ALS2. In familial cases, the gene mutations are mostly inherited in an autosomal recessive pattern and mutations in SETX are inherited in an autosomal dominant fashion. Disease prognosis varies from rapidly progressive to an indolent course. Distinct clinical features may emerge with specific gene mutations in addition to the clinical finding of combined upper and lower motor neuron degeneration. In conclusion, patients presenting with combined upper and lower motor neuron disorders before age 25 should be carefully examined for genetic mutations. Hereditary patterns and coexisting features may be useful in determining prognosis.

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FUS-ALS presenting with myoclonic jerks in a 17-year-old man

Cited by 14 publications

References 9 publications

The Occurrence of FUS Mutations in Pediatric Amyotrophic Lateral Sclerosis: A Case Report and Review of the Literature

The Occurrence of FUS Mutations in Pediatric Amyotrophic Lateral Sclerosis: A Case Report and Review of the Literature

FUS P525L mutation causing amyotrophic lateral sclerosis and movement disorders

Juvenile Amyotrophic Lateral Sclerosis: A Review

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