C9ORF72 repeat expansion is not associated with atypical parkinsonism in the Serbian population

These include, among others, two forms of atypical Parkinsonism, multiple system atrophy (MSA) and progressive supranuclear palsy (PSP). This study aimed to assess the potential role C9orf72 repeat expansions Serbian patients diagnosed with MSA PSP. Genomic DNA 44 patients, 73 PSP 96 controls was extracted from peripheral blood, normal alleles were analyzed by standard quantitative fluorescence polymerase chain reaction (QF-PCR) fragment analysis. Subsequently, for all samples presenting a single allele, repeat-primed PCR performed different sets primers avoid false-negative result. Thirty repeats used as pathogenic cut-off 20-29 intermediate alleles. No pathological detected in nor control subjects. In group, most common allele 2 repeats, largest number 14. Among also had while size within range 17. Also, we identified one patient that an (25 repeats). We did not find correlation between disease onset, age at time examination, or duration patients. Regarding family history, sum both numbers higher positive history than sporadic cases. The results presented this are first systematic assessment sizes population. Although neurodegenerative disorders is still be elucidated, our support current knowledge associated