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.
Giannini, F., Battistini, S., Mancuso, M., Greco, G., Ricci, C., Volpi, N., et al. (2010). D90A-SOD1 mutation in ALS: The first report of heterozigous Italian patients and unusual findings. AMYOTROPHIC LATERAL SCLEROSIS, 11(1-2), 216-219.
D90A-SOD1 mutation in ALS: The first report of heterozigous Italian patients and unusual findings
GIANNINI, FABIO;BATTISTINI, STEFANIA;MANCUSO M;VOLPI, NILA;
2010-01-01
Abstract
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.
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https://hdl.handle.net/11365/25583
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