2026-05-20T08:02:30Z https://www.peertechzpublications.org/oai-pmh

oai:www.peertechzpublications.org:10.17352/aggr.000004 2017-01-24 PTZ.AGGR:VOL2

Case Report: Extent of the Clinical Spectrum for C9orf72 Mutation - From Frontotemporal Dementia to Autonomic Dysfunction Catherine Takeda-Raguin Pierre Olivier Lang Jérémie Perisse Nathalie Philippi Patrick KarcherThomas Vogel<p>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 (SLA) [1]. FTLD is characterized by an insidious onset with gradual evolution, a decline in social and interpersonal behaviors, self-regulation and control disturbances in personal behavior, emotional blunting and loss of introspection capabilities) but also behavioral disorders, disorders of speech and language.</p><p>Literature is controversial about the relationship between multiple system atrophy (MSA) and the gene C9ORF72 mutation. We report the case of a 70-year old patient diagnosed with familial FTLD with C9ORF72 mutation in 2013 associated with cerebellar syndrome, visual hallucinations, and rapidly progressive symptoms suggestive of MSA.</p> Archive of Gerontology and Geriatrics Research - Peertechz Publications 2017-01-24 Case Report https://doi.org/10.17352/aggr.000004 en Copyright © Catherine Takeda-Raguin et al.