Amyotrophic lateral sclerosis (ALS) is a progressive fatal disorder, which results from the degeneration of motor neurons in the brain and spinal cord. Approximately 20% of the inherited autosomal dominant cases are due to mutations within the gene coding for Cu/Zn superoxide dismutase 1 (SOD1), a cytosolic homodimeric enzyme that catalyzes the dismutation of toxic superoxide anion. We investigated the presence of SOD1 gene mutations and activity alterations in two unrelated families of ALS patients from Elba, an island of central Italy. No mutation in SOD1 exon 1 to 5 and no activity alteration were observed in all members of the two analyzed ALS families (FALS). These data show an apparent heterogeneous distribution of ALS patients with SOD1 gene mutations among different populations and suggest that another genetic locus could be involved in the disease.

Gestri, D., Cecchi, C., Tedde, A., Latorraca, S., Orlacchio, A., Grassi, E., et al. (2000). Lack of SOD1 gene mutations and activity alterations in two Italian families with amyotrophic lateral sclerosis. NEUROSCIENCE LETTERS, 289(3), 157-160 [10.1016/S0304-3940(00)01273-8].

Lack of SOD1 gene mutations and activity alterations in two Italian families with amyotrophic lateral sclerosis

ORLACCHIO, ANTONIO;
2000-08-11

Abstract

Amyotrophic lateral sclerosis (ALS) is a progressive fatal disorder, which results from the degeneration of motor neurons in the brain and spinal cord. Approximately 20% of the inherited autosomal dominant cases are due to mutations within the gene coding for Cu/Zn superoxide dismutase 1 (SOD1), a cytosolic homodimeric enzyme that catalyzes the dismutation of toxic superoxide anion. We investigated the presence of SOD1 gene mutations and activity alterations in two unrelated families of ALS patients from Elba, an island of central Italy. No mutation in SOD1 exon 1 to 5 and no activity alteration were observed in all members of the two analyzed ALS families (FALS). These data show an apparent heterogeneous distribution of ALS patients with SOD1 gene mutations among different populations and suggest that another genetic locus could be involved in the disease.
11-ago-2000
Pubblicato
Rilevanza internazionale
Articolo
Esperti anonimi
Settore MED/26 - NEUROLOGIA
English
Con Impact Factor ISI
Pedigree; Superoxide Dismutase; Exons; Amyotrophic Lateral Sclerosis; Humans; DNA Mutational Analysis; Middle Aged; Mutation; Male; Italy; Female
Gestri, D., Cecchi, C., Tedde, A., Latorraca, S., Orlacchio, A., Grassi, E., et al. (2000). Lack of SOD1 gene mutations and activity alterations in two Italian families with amyotrophic lateral sclerosis. NEUROSCIENCE LETTERS, 289(3), 157-160 [10.1016/S0304-3940(00)01273-8].
Gestri, D; Cecchi, C; Tedde, A; Latorraca, S; Orlacchio, A; Grassi, E; Massaro, A; Liguri, G; St George Hyslop, P; Sorbi, S
Articolo su rivista
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/90016
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