Summary Amyotrophic lateral sclerosis (ALS) isafatal neurodegenerative disorder affecting motor neurons. Although most cases ofALSaresporadic, -10%areinherited asanautosomal dominant trait. Mutations intheCu/Znsuperoxidedismutase gene (SOD1)areresponsible forafraction offamilial ALS(FALS). Screening ourFALSkindreds by SSCP, wehave identified mutations in15families, ofwhich 9havenotbeenpreviously reported. Twoofthenew mutations alter aminoacids that havenever beenimplicated inFALS.Oneofthemaffects ahighly conserved amino acid involved indimer contact, andtheother one affects theactive-site loop oftheenzyme. These twomutations reduce significantly SOD 1 enzyme activity in lymphoblasts. Ourresults suggest that SOD1mutations areresponsible for > 13%ofFALScases.

Identification ofNew Mutations intheCu/ZnSuperoxide Dismutase GeneofPatients withFamilial Amyotrophic Lateral Sclerosis

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Identification ofNew Mutations intheCu/ZnSuperoxide Dismutase GeneofPatients withFamilial Amyotrophic Lateral Sclerosis