A novel P66S mutation in exon 3 of the SOD1 gene with early onset and rapid progression

Keckarević, Dušan (6507380019)Dušan (6507380019)KeckarevićStević, Zorica (57204495472)Zorica (57204495472)StevićKeckarević-Marković, Milica (18434375900)Milica (18434375900)Keckarević-MarkovićKecmanović, Miljana (36860979600)Miljana (36860979600)KecmanovićRomac, Stanka (7003983993)Stanka (7003983993)Romac2025-07-022025-07-022012https://doi.org/10.3109/17482968.2011.627588https://www.scopus.com/inward/record.uri?eid=2-s2.0-84856612706&doi=10.3109%2f17482968.2011.627588&partnerID=40&md5=7efd236f324d885a03c0e5edd1784591https://remedy.med.bg.ac.rs/handle/123456789/13969Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disease in adults of unknown origin in most cases. Here we report a novel P66S mutation in exon 3 of the SOD1 gene in an apparently sporadic ALS patient with unusual early onset and rapid disease progression. Our data widen the spectrum of SOD1 mutations and clinical presentations of ALS. © 2012 Informa Healthcare.Amyotrophic lateral sclerosisEarly onsetExon 3 mutationRapid disease progressionSOD1A novel P66S mutation in exon 3 of the SOD1 gene with early onset and rapid progression