A novel L67P SOD1 mutation in an Italian ALS patient.
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder affecting motor neurons. We describe a novel L67P mutation located in exon 3 of the Cu/Zn superoxide dismutase gene in a patient with pure lower motor neuron signs. To date, 11 mutations involving exon 3 of SOD1 have been described, including the present one. Our data confirm that variable penetrance and predominant lower motor neuron involvement are common characteristics in patients bearing mutations in exon 3 of the SOD1 gene.
Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy.
Alessandra
A
del Grande
Marco
M
Luigetti
Amelia
A
Conte
Irene
I
Mancuso
Serena
S
Lattante
Giuseppe
G
Marangi
Giuseppe
G
Stipa
Marcella
M
Zollino
Mario
M
Sabatelli
D000328:Adult; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics* / Q000503:physiopathology; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D006801:Humans; D020125:Mutation, Missense; D017354:Point Mutation; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1
C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1