A SOD1 gene mutation in a patient with slowly progressing familial ALS

S. Penco, A. Schenone, D. Bordo, M. Bolognesi, M. Abbruzzese, O. Bugiani, F. Ajmar, C. Garre

Research output: Contribution to journalArticle

Abstract

We report a new missense mutation (Gly12Ala) in exon 1 of the Cu/Zn superoxide dismutase (SOD1) gene in a 67-year-old patient with familial ALS (FALS). The clinical course showed an unusually slow progression. The enzymatic activity of the mutated SOD1 was 80% of normal. At the molecular level, the Gly12Ala mutation occurs in a region outside the active site and may lead to local distortion strain in the protein structure.

Original languageEnglish
Pages (from-to)404-406
Number of pages3
JournalNeurology
Volume53
Issue number2
Publication statusPublished - Jul 22 1999

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Missense Mutation
Exons
Catalytic Domain
Mutation
Genes
Proteins
Superoxide Dismutase-1

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Penco, S., Schenone, A., Bordo, D., Bolognesi, M., Abbruzzese, M., Bugiani, O., ... Garre, C. (1999). A SOD1 gene mutation in a patient with slowly progressing familial ALS. Neurology, 53(2), 404-406.

A SOD1 gene mutation in a patient with slowly progressing familial ALS. / Penco, S.; Schenone, A.; Bordo, D.; Bolognesi, M.; Abbruzzese, M.; Bugiani, O.; Ajmar, F.; Garre, C.

In: Neurology, Vol. 53, No. 2, 22.07.1999, p. 404-406.

Research output: Contribution to journalArticle

Penco, S, Schenone, A, Bordo, D, Bolognesi, M, Abbruzzese, M, Bugiani, O, Ajmar, F & Garre, C 1999, 'A SOD1 gene mutation in a patient with slowly progressing familial ALS', Neurology, vol. 53, no. 2, pp. 404-406.
Penco S, Schenone A, Bordo D, Bolognesi M, Abbruzzese M, Bugiani O et al. A SOD1 gene mutation in a patient with slowly progressing familial ALS. Neurology. 1999 Jul 22;53(2):404-406.
Penco, S. ; Schenone, A. ; Bordo, D. ; Bolognesi, M. ; Abbruzzese, M. ; Bugiani, O. ; Ajmar, F. ; Garre, C. / A SOD1 gene mutation in a patient with slowly progressing familial ALS. In: Neurology. 1999 ; Vol. 53, No. 2. pp. 404-406.
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