It has been recently reported that a large proportion of patients with familial and sporadic amyotrophic lateral sclerosis (ALS) and/or frontotemporal dementia (FTD) carries the hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72. We describe a patient with a complex phenotype characterized by behavioural variant of FTD, Parkinsonism and ALS with predominant lower motor neuron involvement in which the C9ORF72 expansion was detected
Luigetti, M., Quaranta, D., Conte, A., Piccininni, C., Lattante, S., Romano, A., Silvestri, G., Zollino, M., Sabatelli, M., Frontotemporal dementia, Parkinsonism and lower motor neuron involvement in a patient with C9ORF72 expansion, <<AMYOTROPHIC LATERAL SCLEROSIS>>, 2013; 14 (1): 66-69. [doi:10.3109/17482968.2012.692383] [http://hdl.handle.net/10807/18139]
Frontotemporal dementia, Parkinsonism and lower motor neuron involvement in a patient with C9ORF72 expansion
Luigetti, Marco;Conte, Amelia;Piccininni, Chiara;Lattante, Serena;Silvestri, Gabriella;Zollino, Marcella;Sabatelli, Mario
2012
Abstract
It has been recently reported that a large proportion of patients with familial and sporadic amyotrophic lateral sclerosis (ALS) and/or frontotemporal dementia (FTD) carries the hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72. We describe a patient with a complex phenotype characterized by behavioural variant of FTD, Parkinsonism and ALS with predominant lower motor neuron involvement in which the C9ORF72 expansion was detected
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