Early onset behavioral variant frontotemporal dementia due to the C9ORF72 hexanucleotide repeat expansion: psychiatric clinical presentations
- PMID: 22571983
- DOI: 10.3233/JAD-2012-120523
Early onset behavioral variant frontotemporal dementia due to the C9ORF72 hexanucleotide repeat expansion: psychiatric clinical presentations
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 #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 #2, a woman with positive family history for dementia, developed behavioral disturbances, aggressiveness, and swearing at 57 years of age. Patient #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.
Similar articles
-
Autosomal dominant frontotemporal lobar degeneration due to the C9ORF72 hexanucleotide repeat expansion: late-onset psychotic clinical presentation.Biol Psychiatry. 2013 Sep 1;74(5):384-91. doi: 10.1016/j.biopsych.2013.01.031. Epub 2013 Mar 7. Biol Psychiatry. 2013. PMID: 23473366
-
Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease.Clin Genet. 2013 Mar;83(3):279-83. doi: 10.1111/j.1399-0004.2012.01903.x. Epub 2012 Jul 4. Clin Genet. 2013. PMID: 22650353
-
Novel evidence of phenotypical variability in the hexanucleotide repeat expansion in chromosome 9.J Alzheimers Dis. 2013;35(3):455-62. doi: 10.3233/JAD-122302. J Alzheimers Dis. 2013. PMID: 23435409
-
Links Between the C9orf72 Repeat Expansion and Psychiatric Symptoms.Curr Neurol Neurosci Rep. 2019 Nov 26;19(12):93. doi: 10.1007/s11910-019-1017-9. Curr Neurol Neurosci Rep. 2019. PMID: 31773397 Review.
-
Genetic testing in motor neurone disease.Pract Neurol. 2022 Apr;22(2):107-116. doi: 10.1136/practneurol-2021-002989. Epub 2022 Jan 13. Pract Neurol. 2022. PMID: 35027459 Free PMC article. Review.
Cited by
-
Impaired self-other differentiation in frontotemporal dementia due to the C9ORF72 expansion.Alzheimers Res Ther. 2012 Aug 13;4(5):42. doi: 10.1186/alzrt145. eCollection 2012. Alzheimers Res Ther. 2012. PMID: 23016833 Free PMC article.
-
A review on shared clinical and molecular mechanisms between bipolar disorder and frontotemporal dementia.Prog Neuropsychopharmacol Biol Psychiatry. 2019 Jul 13;93:269-283. doi: 10.1016/j.pnpbp.2019.04.008. Epub 2019 Apr 20. Prog Neuropsychopharmacol Biol Psychiatry. 2019. PMID: 31014945 Free PMC article. Review.
-
Expanded C9ORF72 hexanucleotide repeat in depressive pseudodementia.JAMA Neurol. 2014 Jun;71(6):775-81. doi: 10.1001/jamaneurol.2013.6368. JAMA Neurol. 2014. PMID: 24756204 Free PMC article.
-
The Neuromodulatory Basis of Aggression: Lessons From the Humble Fruit Fly.Front Behav Neurosci. 2022 Apr 18;16:836666. doi: 10.3389/fnbeh.2022.836666. eCollection 2022. Front Behav Neurosci. 2022. PMID: 35517573 Free PMC article. Review.
-
Psychosis and hallucinations in frontotemporal dementia with the C9ORF72 mutation: a detailed clinical cohort.Cogn Behav Neurol. 2013 Sep;26(3):146-54. doi: 10.1097/WNN.0000000000000008. Cogn Behav Neurol. 2013. PMID: 24077574 Free PMC article.