A familial ALS case carrying a novel p.G147C SOD1 heterozygous missense mutation with non-executive cognitive impairment.
'Rita Levi Montalcini' Department of Neuroscience, ALS Center, University of Turin, Turin, Italy Department of Neurosciences, Ophthalmology, Genetics, Rehabilitation and Child Health, University of Genoa, Genoa, Italy.
Antonio
A
Canosa
'Rita Levi Montalcini' Department of Neuroscience, ALS Center, University of Turin, Turin, Italy.
Andrea
A
Calvo
'Rita Levi Montalcini' Department of Neuroscience, ALS Center, University of Turin, Turin, Italy.
Cristina
C
Moglia
'Rita Levi Montalcini' Department of Neuroscience, ALS Center, University of Turin, Turin, Italy.
Barbara
B
Iazzolino
Laboratory of Molecular Genetics, A.O.U. Città della Salute e della Scienza di Torino, Turin, Italy.
Maura
M
Brunetti
Laboratory of Molecular Genetics, A.O.U. Città della Salute e della Scienza di Torino, Turin, Italy.
Gabriella
G
Restagno
Department of Nuclear Medicine, Positron Emission Tomography Centre, IRMET S.p.A., Turin, Italy.
Angelina
A
Cistaro
Department of Nuclear Medicine, Positron Emission Tomography Centre, IRMET S.p.A., Turin, Italy.
Piercarlo
P
Fania
Department of Neuroradiology, A.O.U. Città della Salute e della Scienza di Torino, Turin, Italy.
Giovanna
G
Carrara
Department of Neuroradiology, A.O.U. Città della Salute e della Scienza di Torino, Turin, Italy.
Maria Consuelo
MC
Valentini
Unità Operativa di Neurologia, Presidio Ospedaliero Santa Chiara, APSS di Trento, Trento, Italy.
Raffaella
R
Tanel
'Rita Levi Montalcini' Department of Neuroscience, ALS Center, University of Turin, Turin, Italy Neuroscience Institute of Turin, Turin, Italy.
Adriano
A
Chiò
D000368:Aged; D000369:Aged, 80 and over; D000690:Amyotrophic Lateral Sclerosis / Q000150:complications / Q000235:genetics* / Q000473:pathology; D001921:Brain / Q000473:pathology; D003072:Cognition Disorders / Q000150:complications / Q000235:genetics* / Q000473:pathology; D005190:Family; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D059906:Neuroimaging; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1
C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1
ALS; COGNITION; GENETICS