Autosomal Dominant Frontotemporal Lobar Degeneration Due to the C9ORF72 Hexanucleotide Repeat Expansion: Late-Onset Psychotic Clinical Presentation

• Published in: Biological psychiatry (1969) Vol. 74; no. 5; pp. 384 - 391
• Main Authors: Galimberti, Daniela, Fenoglio, Chiara, Serpente, Maria, Villa, Chiara, Bonsi, Rossana, Arighi, Andrea, Fumagalli, Giorgio G., Del Bo, Roberto, Bruni, Amalia C., Anfossi, Maria, Clodomiro, Alessandra, Cupidi, Chiara, Nacmias, Benedetta, Sorbi, Sandro, Piaceri, Irene, Bagnoli, Silvia, Bessi, Valentina, Marcone, Alessandra, Cerami, Chiara, Cappa, Stefano F., Filippi, Massimo, Agosta, Federica, Magnani, Giuseppe, Comi, Giancarlo, Franceschi, Massimo, Rainero, Innocenzo, Giordana, Maria Teresa, Rubino, Elisa, Ferrero, Patrizia, Rogaeva, Ekaterina, Xi, Zhengrui, Confaloni, Annamaria, Piscopo, Paola, Bruno, Giuseppe, Talarico, Giuseppina, Cagnin, Annachiara, Clerici, Francesca, Dell’Osso, Bernardo, Comi, Giacomo P., Altamura, A. Carlo, Mariani, Claudio, Scarpini, Elio
• Format: Journal Article
• Language: English
• Published: New York, NY Elsevier Inc 01.09.2013; Elsevier
• Subjects: Adult; Adult and adolescent clinical studies; Aged; Aged, 80 and over; Biological and medical sciences; C9ORF72; C9orf72 Protein; clinical presentation; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; dementia; DNA Repeat Expansion; Female; frontotemporal lobar degeneration; Frontotemporal Lobar Degeneration - genetics; hexanucleotide repeat expansion; Humans; late onset psychosis; Male; Medical sciences; Middle Aged; Neurology; Organic mental disorders. Neuropsychology; phenotype; Proteins - genetics; Psychiatric/Mental Health; Psychology. Psychoanalysis. Psychiatry; Psychopathology. Psychiatry; Psychotic Disorders - diagnosis; Psychotic Disorders - genetics; phenotype; clinical presentation; dementia; late onset psychosis; C9ORF72; frontotemporal lobar degeneration; hexanucleotide repeat expansion; Nervous system diseases; Late; Cerebral disorder; Psychosis; Phenotype; Age of onset; Central nervous system disease; Degenerative disease; Frontotemporal dementia

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 (FTLD). Atypical presentations have been described, particularly psychosis. We determined the fr...