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Article

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

Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases - 1 Jan 2010

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

Abstract excerpt

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...

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PMID: 20184519
DOI: 10.3109/17482960902721642

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SOD1

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