2011
DOI: 10.1007/s00415-011-6292-6
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Abstract: We present two cases of patients with juvenile amyotrophic lateral sclerosis (ALS), who had no history of familial ALS. The symptoms of both patients started as weakness of the unilateral upper limb and neck, and extended to bulbar and respiratory weakness in a relatively short period. Of note, the first patient was mentally retarded before the onset of weakness. Fused in sarcoma/translocated in liposarcoma (FUS/TLS) gene analyses revealed mutations of p. G492EfsX527 (c. 1475delG), which is a novel deletion/fr… Show more

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Cited by 41 publications
(35 citation statements)
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“…We herein report a case of juvenile-onset SALS with a frameshift FUS gene mutation presenting unique neuroradiological findings and cognitive impairment. A subset of juvenile-onset FALS/SALS cases of FUS gene mutations has been reported to have mental retardation or learning difficulty (6)(7)(8)(9)(10)(11). The present case further supports the association between FUS gene mutations and this particular phenotype.…”
Section: Introductionsupporting
confidence: 72%
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“…We herein report a case of juvenile-onset SALS with a frameshift FUS gene mutation presenting unique neuroradiological findings and cognitive impairment. A subset of juvenile-onset FALS/SALS cases of FUS gene mutations has been reported to have mental retardation or learning difficulty (6)(7)(8)(9)(10)(11). The present case further supports the association between FUS gene mutations and this particular phenotype.…”
Section: Introductionsupporting
confidence: 72%
“…Cases of ALS with a mutation in the FUS gene are rarely associated with cognitive impairment, including frontotemporal lobar degeneration (FTLD) (5). Similarly, a subset of juvenile-onset FALS/ SALS cases with a mutation in the FUS gene reportedly has mental retardation or learning difficulty (6)(7)(8)(9)(10)(11). In addition, juvenile-onset ALS with mental retardation or cognitive impairment is frequently associated with frameshift mutations in the FUS gene (6).…”
Section: Discussionmentioning
confidence: 99%
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“…15,16 poor prognosis. [17][18][19] In some forms of ALS, such as the SETX-associated ALS type 4, the phenotype is so atypical that some authors suggest they should be considered as separate disease entities rather than ALS. 20,21 60% of patients with disease onset between 20 and 40 years of age have predominantly upper motor neuron involvement, and relatively few of these patients (15%) have bulbar-onset disease.…”
Section: Age At Onsetmentioning
confidence: 99%
“…T) and mental retardation was recently discovered. 93 Under physiological conditions, FUS is predominantly present in the cell nucleus. Similar to what is seen for TDP-43, cytoplasmic mislocalization and FUS-positive inclusions can be found in ALS patients with FUS muta tions.…”
Section: Fused In Sarcoma (Fus)mentioning
confidence: 99%