title: Juvenile-onset Sporadic Amyotrophic Lateral Sclerosis with a Frameshift FUS Gene Mutation Presenting Unique Neuroradiological Findings and Cognitive Impairment.
abstract: A 24-year-old Japanese woman developed anterocollis, weakness of the proximal arms, and subsequent cognitive impairment. A neurological examination revealed amyotrophic lateral sclerosis (ALS) without a family history. Systemic muscle atrophy progressed rapidly. Cerebral MRI clearly exhibited high signal intensities along the bilateral pyramidal tracts. An analysis of the FUS gene revealed a heterozygous two-base pair deletion, c.1507-1508delAG (p.G504WfsX515). A subset of juvenile-onset familial/sporadic ALS cases with FUS gene mutations reportedly demonstrates mental retardation or learning difficulty. Our study emphasizes the importance of conducting a FUS gene analysis in juvenile-onset ALS cases, even when no family occurrence is confirmed.
authors.affiliation: Department of Neurology, Gunma University Graduate School of Medicine, Japan.
authors.forename: Kimitoshi
authors.initials: K
authors.lastname: Hirayanagi
authors.forename: Masayuki
authors.initials: M
authors.lastname: Sato
authors.forename: Natsumi
authors.initials: N
authors.lastname: Furuta
authors.forename: Kouki
authors.initials: K
authors.lastname: Makioka
authors.forename: Yoshio
authors.initials: Y
authors.lastname: Ikeda
mesh_terms: D000328:Adult; D000690:Amyotrophic Lateral Sclerosis / Q000175:diagnosis* / Q000235:genetics*; D003072:Cognition Disorders / Q000235:genetics*; D003704:Dementia / Q000175:diagnosis* / Q000235:genetics*; D018450:Disease Progression; D005260:Female; D016368:Frameshift Mutation; D005819:Genetic Markers / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008279:Magnetic Resonance Imaging; D034702:RNA-Binding Protein FUS / Q000235:genetics*; D017384:Sequence Deletion; D014140:Tracheotomy
chemical_list: C000599550:FUS protein, human; D005819:Genetic Markers; D034702:RNA-Binding Protein FUS