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.
Autosomal Dominant Frontotemporal Lobar Degeneration Due to the C9ORF72 Hexanucleotide Repeat Expansion: Late-Onset Psychotic Clinical Presentation / Daniela Galimberti, Chiara Fenoglio, Maria Serpente, Chiara Villa, Rossana Bonsi, Andrea Arighi, Giorgio G. Fumagalli, Roberto Del Bo, Amalia C. Bruni, Maria Anfossi, Alessandra Clodomiro, Chiara Cupidi, Benedetta Nacmias, Sandro Sorbi, Irene Piaceri, Silvia Bagnoli, Valentina Bessi, Alessandra Marcone, Chiara Cerami, Stefano F. Cappa, et al.. - In: BIOLOGICAL PSYCHIATRY. - ISSN 0006-3223. - STAMPA. - 74(5):(2013), pp. 384-391. [10.1016/j.biopsych.2013.01.031]
Autosomal Dominant Frontotemporal Lobar Degeneration Due to the C9ORF72 Hexanucleotide Repeat Expansion: Late-Onset Psychotic Clinical Presentation
NACMIAS, BENEDETTA;SORBI, SANDRO;PIACERI, IRENE;BAGNOLI, SILVIA;BESSI, VALENTINA;
2013
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 (FTLD). Atypical presentations have been described, particularly psychosis.| File | Dimensione | Formato | |
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