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D90A-SOD1 mutation in ALS: The first report of heterozygous Italian patients and unusual findings

2010; Taylor & Francis; Volume: 11; Issue: 1-2 Linguagem: Inglês

10.3109/17482960902721642

1748-2968

Fabio Giannini, Stefania Battistini, Michelangelo Mancuso, Giuseppe Greco, Claudia Ricci, Nila Volpi, Alberto Corona, Selina Piazza, Gabriele Siciliano,

Mitochondrial Function and Pathology

Among the 140 Cu/Zn superoxide dismutase-1 (SOD1) gene mutations associated with ALS, only D90A, the most prevalent mutation in Europe, has been clearly shown to cause recessive and dominant ALS. Here we first describe two, apparently sporadic, Italian ALS patients heterozygous for the D90A mutation. One patient experienced early sensory involvement, confirmed by nerve biopsy. We review sensory symptoms in SOD1 ALS and discuss its possible origin in D90A heterozygous patients.