Case Report: Extent of the Clinical Spectrum for C9orf72 Mutation - From Frontotemporal Dementia to Autonomic Dysfunction
<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 dec...
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Archive of Gerontology and Geriatrics Research - Peertechz Publications,
2017-01-24.
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| LEADER | 00000 am a22000003u 4500 | ||
|---|---|---|---|
| 001 | peertech__10_17352_aggr_000004 | ||
| 042 | |a dc | ||
| 100 | 1 | 0 | |a Catherine Takeda-Raguin |e author |
| 700 | 1 | 0 | |a Pierre Olivier Lang |e author |
| 700 | 1 | 0 | |a Jérémie Perisse |e author |
| 700 | 1 | 0 | |a Nathalie Philippi |e author |
| 700 | 1 | 0 | |a Patrick Karcher |e author |
| 700 | 1 | 0 | |a Thomas Vogel |e author |
| 245 | 0 | 0 | |a Case Report: Extent of the Clinical Spectrum for C9orf72 Mutation - From Frontotemporal Dementia to Autonomic Dysfunction |
| 260 | |b Archive of Gerontology and Geriatrics Research - Peertechz Publications, |c 2017-01-24. | ||
| 520 | |a <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> | ||
| 540 | |a Copyright © Catherine Takeda-Raguin et al. | ||
| 546 | |a en | ||
| 655 | 7 | |a Case Report |2 local | |
| 856 | 4 | 1 | |u https://doi.org/10.17352/aggr.000004 |z Connect to this object online. |