家族性ALS的临床特征及基因分析.pdfVIP

2006 2 23 1 41 : 1003-2754( 2006) 01-0041-03 ALS 席　静, 　张　成, 　卢锡林, 　谢有梅, 　李洵华, 　李宝琴, 黄　慧 : ( ALS) SOD1 FA LS , PCR-SSCP SOD 16 237 , 13 , 8 , , - A LS A LS P CR SSCP SOD 1 , SOD1 A LS ( 1) , , ; ( 2) SOD1 FA LS : ; ; : R744. 8 : A , , Clinical characteristics and gene analysis of a fam ilial amy otrophic lateral sclerosis X I J ing ZH A N G Cheng L U - , . ( , , 510080, X i lin et al D ep ar tment of N eurology First Aff iliated H osp ital of Zhong shan University Guang hou China) Abstract: Obj ectiveT investigate t he clinical characteristics f a big familial amy tr phic lateral scler sis ( ) ( ) . pedigree FALS and Chinese FA LS and sp radic A LS SA LS patients Methods T c llect the clinical data f . , this pedigree and c m pare familial and sp radic A LS in China and western A LS rep rt Results In this pedigree 13 , 8 , there are pe ple sh w ed typical A LS sympt ms died f t his disease but m st f them present varing peri d f fasciculati n bef re nset. Clinically , Chinese FALS pat ientss sympt ms are similar t w esterns, but fasciculati n is m re c mm n. With regard t SA LS patients, the male: female rati is higher , the age f nset is earlier and fas- ciculati n is m re c mm n. ConclusionThe A LS pat ients in this family might be caused by a new A LS gene. Key words: Familial amy tr phic lateral scler sis ( FALS) ; SOD1 gene; Clinical analy sis ( amy tr phic lateral scler -