Case Report: Extent of the Clinical Spectrum for C9orf72 Mutation - From Frontotemporal Dementia to Autonomic Dysfunction

• 主要な著者: Catherine Takeda-Raguin (著者), Pierre Olivier Lang (著者), Jérémie Perisse (著者), Nathalie Philippi (著者), Patrick Karcher (著者), Thomas Vogel (著者)
• フォーマット: 図書
• 出版事項: Archive of Gerontology and Geriatrics Research - Peertechz Publications, 2017-01-24.
• 主題: Case Report
• オンライン･アクセス: Connect to this object online.

要約

<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>

DOI

10.17352/aggr.000004