Amyotrophic lateral sclerosis (ALS) occurs in both sporadic(SALS) and, less commonly, familial (FALS) forms.In familial cases, inheritance is usually autosomal dominant,but recessive transmission of the disease also occurs.6In a subset (15-20%) of FALS cases the disease is caused bymutations in the gene coding Cu-Zn superoxide dismutase(Cu-Zn SOD1) on chromosome 21.5 In SALScases, mutations have rarely been found. Variability indisease duration exists within families with the same SOD1mutation.
Abnormally high levels of SOD1 mRNA in a patient with amyotrophic lateral sclerosis.
Conforti Francesca Luisa;Magariello Angela;Mazzei Rosalucia;Sprovieri T;Patitucci Alessandra;Crescibene Lucia;Bastone Loredana;Gabriele AL;Muglia Maria;Quattrone Aldo
2004
Abstract
Amyotrophic lateral sclerosis (ALS) occurs in both sporadic(SALS) and, less commonly, familial (FALS) forms.In familial cases, inheritance is usually autosomal dominant,but recessive transmission of the disease also occurs.6In a subset (15-20%) of FALS cases the disease is caused bymutations in the gene coding Cu-Zn superoxide dismutase(Cu-Zn SOD1) on chromosome 21.5 In SALScases, mutations have rarely been found. Variability indisease duration exists within families with the same SOD1mutation.File in questo prodotto:
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Descrizione: ABNORMALLY HIGH LEVELS OF SOD1 mRNA IN A PATIENT WITH AMYOTROPHIC LATERAL SCLEROSIS
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