CABONA C

The aim of our study was to evaluate the role of mutations in the MAPT gene in patients with pure amyotrophic lateral sclerosis (ALS). A cohort of 120 ALS patients, both sporadic and familial, without cognitive impairment was analyzed by next-generation sequencing with a multiple-gene panel comprising 23 genes, including MAPT, known to be...

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with a heterogeneous genetic back-ground. Because mutation analysis by Sanger sequencing is costly and time-consuming, in recent years,next-generation sequencing (NGS) techniques have become of much interest. This study analyses theresults of 20 years of molecular analyses in...