title: A Japanese ALS6 family with mutation R521C in the FUS/TLS gene: a clinical, pathological and genetic report.
abstract: Here we report a Japanese family with amyotrophic lateral sclerosis (ALS) characterized by very rapid progression, high penetrance and an autosomal dominant mode of inheritance. The phenotype includes atrophy of sternocleidomastoideus muscles, bulbar involvement, weakness of neck muscles and proximal muscle atrophy. These clinical symptoms are reminiscent of myopathy. All patients examined had similar clinical symptoms, age at onset and disease duration. The proband was found to have mutation R521C in the FUS/TLS gene, and was diagnosed as having ALS6. Autopsy material was available from the mother of the proband and FUS-immunoreactive neuronal and glial cytoplasmic inclusions were observed in the anterior horn of the spinal cord. While atrophy and weakness of the sternocleidomastoideus muscle is not emphasized in previous reports, this symptom may be a clinical hallmark of ALS6.
authors.affiliation: Department of Neurology, Hirosaki University Graduate School of Medicine, Hirosaki, Aomori 036-8562, Japan.
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Yamamoto-Watanabe
authors.forename: Mitsunori
authors.initials: M
authors.lastname: Watanabe
authors.forename: Koichi
authors.initials: K
authors.lastname: Okamoto
authors.forename: Yukio
authors.initials: Y
authors.lastname: Fujita
authors.forename: Mandy
authors.initials: M
authors.lastname: Jackson
authors.forename: Masaki
authors.initials: M
authors.lastname: Ikeda
authors.forename: Yoichi
authors.initials: Y
authors.lastname: Nakazato
authors.forename: Yoshio
authors.initials: Y
authors.lastname: Ikeda
authors.forename: Etsuro
authors.initials: E
authors.lastname: Matsubara
authors.forename: Takeshi
authors.initials: T
authors.lastname: Kawarabayashi
authors.forename: Mikio
authors.initials: M
authors.lastname: Shoji
mesh_terms: D000328:Adult; D017668:Age of Onset; D019943:Amino Acid Substitution; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics* / Q000473:pathology; D004247:DNA / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D020233:Gait Disorders, Neurologic / Q000209:etiology / Q000235:genetics; D006801:Humans; D007150:Immunohistochemistry; D002479:Inclusion Bodies / Q000473:pathology; D007564:Japan; D008297:Male; D018908:Muscle Weakness / Q000209:etiology / Q000473:pathology; D018482:Muscle, Skeletal / Q000473:pathology; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D034702:RNA-Binding Protein FUS / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013116:Spinal Cord / Q000473:pathology
chemical_list: D034702:RNA-Binding Protein FUS; D004247:DNA