Abstract
A hexanucleotide repeat expansion in the first intron of C9ORF72 has been shown to be responsible for a high number of familial cases of amyotrophic lateral sclerosis or frontotemporal lobar degeneration with or without concomitant motor neuron disease phenotype and TDP-43 based pathology. Here, we report on three cases carrying the hexanucleotide repeat expansion with an atypical presentation consisting in the development of psychiatric symptoms. Patient #num;1, a 53 year old man with positive family history for dementia, presented with mood deflection, characterized by apathy, social withdraw, and irritability in the last two years. He was diagnosed with "mild cognitive impairment due to depressive syndrome" six months later and subsequently with Alzheimer's disease. Patient #num;2, a woman with positive family history for dementia, developed behavioral disturbances, aggressiveness, and swearing at 57 years of age. Patient #num;3 presented, in the absence of brain atrophy, with mystical delirium with auditory hallucinations at 44 years of age, and did not present neurological symptoms over a 7-year follow up. The description of these cases underlines that the hexanucleotide repeat expansion in chromosome 9 could be associated with early onset psychiatric presentations.
| Original language | English |
|---|---|
| Pages (from-to) | 447-452 |
| Number of pages | 6 |
| Journal | Journal of Alzheimer's Disease |
| Volume | 31 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - 2012 |
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Keywords
- C9ORF72 hexanucleotide repeat expansion
- delirium
- dementia
- frontotemporal lobar degeneration
- psychosis
ASJC Scopus subject areas
- Psychiatry and Mental health
- Geriatrics and Gerontology
- Clinical Psychology
Cite this
Early onset behavioral variant frontotemporal dementia due to the C9ORF72 hexanucleotide repeat expansion : Psychiatric clinical presentations. / Arighi, Andrea; Giorgio, Fumagallil; Jacini, Francesca; Fenoglio, Chiara; Ghezzi, Laura; Pietroboni, Anna M.; De Riz, Milena; Serpente, Maria; Ridolfi, Elisa; Bonsi, Rossana; Bresolin, Nereo; Scarpinil, Elio; Galimberti, Daniela.
In: Journal of Alzheimer's Disease, Vol. 31, No. 2, 2012, p. 447-452.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Early onset behavioral variant frontotemporal dementia due to the C9ORF72 hexanucleotide repeat expansion
T2 - Psychiatric clinical presentations
AU - Arighi, Andrea
AU - Giorgio, Fumagallil
AU - Jacini, Francesca
AU - Fenoglio, Chiara
AU - Ghezzi, Laura
AU - Pietroboni, Anna M.
AU - De Riz, Milena
AU - Serpente, Maria
AU - Ridolfi, Elisa
AU - Bonsi, Rossana
AU - Bresolin, Nereo
AU - Scarpinil, Elio
AU - Galimberti, Daniela
PY - 2012
Y1 - 2012
N2 - A hexanucleotide repeat expansion in the first intron of C9ORF72 has been shown to be responsible for a high number of familial cases of amyotrophic lateral sclerosis or frontotemporal lobar degeneration with or without concomitant motor neuron disease phenotype and TDP-43 based pathology. Here, we report on three cases carrying the hexanucleotide repeat expansion with an atypical presentation consisting in the development of psychiatric symptoms. Patient #num;1, a 53 year old man with positive family history for dementia, presented with mood deflection, characterized by apathy, social withdraw, and irritability in the last two years. He was diagnosed with "mild cognitive impairment due to depressive syndrome" six months later and subsequently with Alzheimer's disease. Patient #num;2, a woman with positive family history for dementia, developed behavioral disturbances, aggressiveness, and swearing at 57 years of age. Patient #num;3 presented, in the absence of brain atrophy, with mystical delirium with auditory hallucinations at 44 years of age, and did not present neurological symptoms over a 7-year follow up. The description of these cases underlines that the hexanucleotide repeat expansion in chromosome 9 could be associated with early onset psychiatric presentations.
AB - A hexanucleotide repeat expansion in the first intron of C9ORF72 has been shown to be responsible for a high number of familial cases of amyotrophic lateral sclerosis or frontotemporal lobar degeneration with or without concomitant motor neuron disease phenotype and TDP-43 based pathology. Here, we report on three cases carrying the hexanucleotide repeat expansion with an atypical presentation consisting in the development of psychiatric symptoms. Patient #num;1, a 53 year old man with positive family history for dementia, presented with mood deflection, characterized by apathy, social withdraw, and irritability in the last two years. He was diagnosed with "mild cognitive impairment due to depressive syndrome" six months later and subsequently with Alzheimer's disease. Patient #num;2, a woman with positive family history for dementia, developed behavioral disturbances, aggressiveness, and swearing at 57 years of age. Patient #num;3 presented, in the absence of brain atrophy, with mystical delirium with auditory hallucinations at 44 years of age, and did not present neurological symptoms over a 7-year follow up. The description of these cases underlines that the hexanucleotide repeat expansion in chromosome 9 could be associated with early onset psychiatric presentations.
KW - C9ORF72 hexanucleotide repeat expansion
KW - delirium
KW - dementia
KW - frontotemporal lobar degeneration
KW - psychosis
UR - http://www.scopus.com/inward/record.url?scp=84865613274&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84865613274&partnerID=8YFLogxK
U2 - 10.3233/JAD-2012-120523
DO - 10.3233/JAD-2012-120523
M3 - Article
C2 - 22571983
AN - SCOPUS:84865613274
VL - 31
SP - 447
EP - 452
JO - Journal of Alzheimer's Disease
JF - Journal of Alzheimer's Disease
SN - 1387-2877
IS - 2
ER -