Frontotemporal dementia, Parkinsonism and lower motor neuron involvement in a patient with C9ORF72 expansion

Gabriella Silvestri, Marcella Zollino, Mario Sabatelli, Marco Luigetti, Amelia Conte, Chiara Piccininni, Serena Lattante, Davide Quaranta, Angela Romano

Risultato della ricerca: Contributo in rivistaArticolo in rivista

11 Citazioni (Scopus)

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
Lingua originaleEnglish
pagine (da-a)66-69
Numero di pagine4
RivistaAmyotrophic Lateral Sclerosis
Volume14
DOI
Stato di pubblicazionePubblicato - 2012

Keywords

  • C9ORF72

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