title: TARDBP mutations are not a frequent cause of ALS in Finnish patients.
abstract: In previous studies 1-3 % of ALS patients have TARDBP mutations as the cause of the disease. TARDBP mutations have been reported in ALS patients in different populations but so far there are no studies on the frequency of TARDBP mutations in Finnish ALS patients. A cohort of 50 Finnish patients, 44 SALS and 6 FALS patients, were included in the study. Genomic DNA was extracted from venous blood or muscle tissue and a mutation analysis of TARDBP was performed. No definitely pathogenic mutations could be identified in TARDBP in our patient cohort. However, two previously unknown variations were found: one silent mutation in exon 2 and one relatively deep intronic single nucleotide insertion in intron 5. In addition, two previously known non-pathogenic polymorphisms in intron 5 were detected. The size of our cohort is obviously not large enough to conclusively exclude TARDBP mutations as a very rare cause of ALS in Finland. However, based on our results TARDBP mutations do not appear to be a frequent cause of familial or sporadic ALS in Finland.
authors.affiliation: School of Medicine, University of Tampere, Finland.
authors.forename: Hanna-Kaisa
authors.initials: HK
authors.lastname: Mentula
authors.forename: Laura
authors.initials: L
authors.lastname: Tuovinen
authors.forename: Sini
authors.initials: S
authors.lastname: Penttilä
authors.forename: Tiina
authors.initials: T
authors.lastname: Suominen
authors.forename: Bjarne
authors.initials: B
authors.lastname: Udd
authors.forename: Johanna
authors.initials: J
authors.lastname: Palmio
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000209:etiology* / Q000235:genetics*; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D005387:Finland / Q000453:epidemiology; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D019154:Protein Splicing; D016036:Seroepidemiologic Studies; D044465:White People / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins
keywords: Amyotrophic lateral sclerosis; TARDBP; mutation screening