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

Dušan Keckarević; Zorica Stević; Milica Keckarević-Marković; Miljana Kecmanović; Stanka Romac

doi:10.3109/17482968.2011.627588

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

Amyotroph Lateral Scler. 2012 Feb;13(2):237-40. doi: 10.3109/17482968.2011.627588. Epub 2012 Jan 3.

Authors

Dušan Keckarević¹, Zorica Stević, Milica Keckarević-Marković, Miljana Kecmanović, Stanka Romac

Affiliation

¹ Faculty of Biology, University of Belgrade, Studentski trg 16, Belgrade, Serbia. [email protected]

PMID: 22214314
DOI: 10.3109/17482968.2011.627588

Abstract

Amyotrophic 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.

Publication types

Case Reports

MeSH terms

Age of Onset
Amyotrophic Lateral Sclerosis / genetics*
Amyotrophic Lateral Sclerosis / physiopathology*
DNA Mutational Analysis
Disease Progression*
Exons*
Fatal Outcome
Humans
Male
Mutation*
Superoxide Dismutase / genetics*
Superoxide Dismutase-1
Young Adult

Substances

SOD1 protein, human
Superoxide Dismutase
Superoxide Dismutase-1