Abstract
We present three members of a pedigree with familial amyotrophic lateral sclerosis (FALS) who have a rare mutation in exon 4 of Cu/Zn superoxide dismutase (SOD1) codon position 89, converting alanine to valine. This mutation was associated with incomplete penetrance and variable age of onset. The onset of the disease was late in two of our patients and early in the other. Two of our patients had symptoms and/or signs of an associated painful sensory neuropathy. The incomplete disease penetrance seen with this mutation (and others reported in the literature) emphasizes the potential value for obtaining an SOD1 genotype in patients with ALS, even if there is no apparent family history.
Publication types
-
Case Reports
-
Comparative Study
-
Research Support, U.S. Gov't, P.H.S.
MeSH terms
-
Adolescent
-
Adult
-
Age of Onset*
-
Aged
-
Alanine / genetics
-
Amyotrophic Lateral Sclerosis / complications
-
Amyotrophic Lateral Sclerosis / genetics*
-
Amyotrophic Lateral Sclerosis / pathology
-
DNA Mutational Analysis
-
Exons
-
Family Health
-
Humans
-
Male
-
Mutation*
-
Pedigree
-
Penetrance*
-
Peripheral Nervous System Diseases / complications
-
Peripheral Nervous System Diseases / genetics
-
Peripheral Nervous System Diseases / pathology
-
Polymorphism, Single Nucleotide
-
Reverse Transcriptase Polymerase Chain Reaction
-
Superoxide Dismutase / genetics*
-
Valine / genetics
Substances
-
Superoxide Dismutase
-
Valine
-
Alanine