Spectre clinique de la mutation C9orf72 : au-delà la démence frontotemporale

C9ORF72 gene mutation on chromosome 9 corresponding to a repetition of hexanucleotides (GGGGCC)xn is the most common mutation found in frontotemporal lobar dementia (FTLD) and amyotrophic lateral sclerosis. The literature is controversial on the relationship between multiple system atrophy (MSA) and C9ORF72 gene mutation. We report the case of a 70-year-old patient diagnosed with familial FTLD with C9ORF72 mutation in 2013 associated with symptoms suggestive of MSA.