title: [To screen for SQSTM1/p62 gene in Chinese patients with familial amyotrophic lateral sclerosis carrying superoxide dismutase 1 mutation].
abstract: OBJECTIVE
  To explore the clinical features and SQSTM1/p62 gene mutations in Chinese Han patients with familial amyotrophic lateral sclerosis linked superoxide dismutase 1 (SOD1) mutation (FALS-SOD1).
  
  
  METHODS
  A total of 13 FALS-SOD1 probands and 100 healthy controls were studied, with DNA extracted from the peripheral blood. Sequencing was carried out at 8 exons, intron-exon boundaries and promoter region (2-kb upstream from the coding sequence) of SQSM1/p62. Clinical data were collected and all patients were followed-up. Phenotype-genotype relationship was analyzed.
  
  
  RESULTS
  The insertion of T was found in intron 5 of SQSTM1/p62 gene [+1 insert T (TT > TG)] in a FALS-SOD1 G16A male proband, with limbs as the symptom onset and faster disease progression than the other two SOD1 G16A probands without SQSTM1/p62 gene mutation.
  
  
  CONCLUSIONS
  The insertion of T in the intron 5 of SQSTM1/p62 gene may promote the ALS progression by damaging p62 function in the FALS-SOD1 G16A proband.
authors.affiliation: Department of Neurology, Peking University Third Hospital, Beijing 100191, China.
authors.forename: Yi
authors.initials: Y
authors.lastname: Yang
authors.affiliation: Department of Neurology, Peking University Third Hospital, Beijing 100191, China. Email: dsfan@sina.com.
authors.forename: Dongsheng
authors.initials: D
authors.lastname: Fan
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D005091:Exons; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D008403:Mass Screening; D008875:Middle Aged; D009154:Mutation; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1
chemical_list: C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1