title: A novel mutation in the senataxin gene identified in a Chinese patient with sporadic amyotrophic lateral sclerosis.
abstract: Our objective was to investigate the association between senataxin mutations and sporadic amyotrophic lateral sclerosis (ALS) in Chinese patients. DNA from 45 sporadic ALS patients was screened for mutations in senataxin using polymerase chain reaction (PCR) and direct sequencing. A novel variation, Thr1118Ile, was identified in a 42-year-old individual with sporadic ALS. This variation was not detected in 200 unrelated control individuals. In conclusion, the presence of this variation in a patient with sporadic ALS, and its absence in 200 controls, supports an association between senataxin and sporadic ALS. This study has broadened the mutation spectrum of senataxin and expanded the clinical phenotypes of senataxin mutations.
authors.affiliation: Department of Neurology and Institute of Neurology, First Affiliated Hospital, Centre of Neuroscience, Fujian Medical University, 20 Chazhong Road, Fuzhou, China.
authors.forename: Zhen-hua
authors.initials: ZH
authors.lastname: Zhao
authors.forename: Wen-Zu
authors.initials: WZ
authors.lastname: Chen
authors.forename: Zhi-ying
authors.initials: ZY
authors.lastname: Wu
authors.forename: Ning
authors.initials: N
authors.lastname: Wang
authors.forename: Gui-xian
authors.initials: GX
authors.lastname: Zhao
authors.forename: Wan-jin
authors.initials: WJ
authors.lastname: Chen
authors.forename: Shen-xing
authors.initials: SX
authors.lastname: Murong
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000690:Amyotrophic Lateral Sclerosis / Q000208:ethnology* / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D002681:China / Q000453:epidemiology; D004265:DNA Helicases; D017931:DNA Primers; D005091:Exons / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease / Q000208:ethnology; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D064251:Multifunctional Enzymes; D010375:Pedigree; D017354:Point Mutation; D020365:RNA Helicases / Q000235:genetics*
chemical_list: D017931:DNA Primers; D064251:Multifunctional Enzymes; C484368:SETX protein, human; D004265:DNA Helicases; D020365:RNA Helicases