title: Mutations in the gene encoding p62 in Japanese patients with amyotrophic lateral sclerosis.
abstract: OBJECTIVE
  The purpose of this study was to find mutations in the SQSTM1 gene encoding p62 in Japanese patients with amyotrophic lateral sclerosis (ALS), since this gene has been recently identified as a causative gene for familial and sporadic ALS in the United States.
  
  
  METHODS
  We sequenced this gene in 61 Japanese patients with sporadic and familial ALS. To our knowledge, we describe for the first time the clinical information of such mutation-positive patients.
  
  
  RESULTS
  We found novel mutations, p.Ala53Thr and p.Pro439Leu, in 2 patients with sporadic ALS. The clinical picture of the mutation-positive patients was that of typical ALS with varied upper motor neuron signs. Although this gene is causative for another disease, Paget disease of bone (PDB), none of our patients showed evidence of concomitant PDB.
  
  
  CONCLUSIONS
  The presence of mutations in this racial population suggests worldwide, common involvement of the SQSTM1 gene in ALS.
authors.affiliation: Department of Neurology, Sakai Hospital, Kinki University Faculty of Medicine, Osaka, Japan. hirano_makito@yahoo.co.jp
authors.forename: Makito
authors.initials: M
authors.lastname: Hirano
authors.forename: Yusaku
authors.initials: Y
authors.lastname: Nakamura
authors.forename: Kazumasa
authors.initials: K
authors.lastname: Saigoh
authors.forename: Hikaru
authors.initials: H
authors.lastname: Sakamoto
authors.forename: Shuichi
authors.initials: S
authors.lastname: Ueno
authors.forename: Chiharu
authors.initials: C
authors.lastname: Isono
authors.forename: Katsuichi
authors.initials: K
authors.lastname: Miyamoto
authors.forename: Maiko
authors.initials: M
authors.lastname: Akamatsu
authors.forename: Yoshiyuki
authors.initials: Y
authors.lastname: Mitsui
authors.forename: Susumu
authors.initials: S
authors.lastname: Kusunoki
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000328:Adult; D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D000071456:Sequestosome-1 Protein
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C099718:SQSTM1 protein, human; D000071456:Sequestosome-1 Protein