Frontotemporal dementia, Parkinsonism and lower motor neuron involvement in a patient with C9ORF72 expansion.
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.
Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy. mluigetti@gmail.com
Marco
M
Luigetti
Davide
D
Quaranta
Amelia
A
Conte
Chiara
C
Piccininni
Serena
S
Lattante
Angela
A
Romano
Gabriella
G
Silvestri
Marcella
M
Zollino
Mario
M
Sabatelli
D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000175:diagnosis / Q000235:genetics*; D042622:DNA Repeat Expansion / Q000235:genetics*; D005260:Female; D057180:Frontotemporal Dementia / Q000175:diagnosis* / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D010300:Parkinson Disease / Q000175:diagnosis / Q000235:genetics*