[To screen for SQSTM1/p62 gene in Chinese patients with familial amyotrophic lateral sclerosis carrying superoxide dismutase 1 mutation].

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).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.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.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.