Clinical characteristics of familial amyotrophic lateral sclerosis with a Phe20Cys mutation in the SOD1 gene in a Korean family.
Familial ALS (FALS) is mostly inherited as an age-dependent autosomal dominant trait. Since the discovery of mutations in the gene encoding Cu/Zn superoxide dismutase (SOD1), testing for SOD1 gene mutations has become a routine part of the investigation into ALS patients with a family history. This study reports the results of mutation evaluation and clinical features examination in a Korean family with ALS. The clinical symptoms, signs and neurological findings of a four-generation pedigree with 34 members were collected. Five exons of the Cu/Zn SOD gene were analyzed by polymerase chain reaction. The clinical signs and symptoms of ALS patients began in the lower extremities and spread to the upper extremities and bulbar muscles. The mode of transmission was determined to be autosomal dominant, and low penetrance was seen in females. The age at onset varied from 37 to 77 years. ALSFRS-R testing showed variability in the clinical progression of the disease. A point mutation in exon 1 of the SOD1 gene, resulting in an amino acid change from phenylalanine 20 to cysteine (F20C), was identified. This is the first report of clinical features resulting from the Phe20Cys mutation in the SOD1 gene.
Kim
Hyun Young
HY
Department of Neurology, College of Medicine, Hanyang University, Seoul.
Ki
Chang-Seok
CS
Koh
Seong-Ho
SH
Park
Kee-Hyung
KH
Sunwoo
Il-Nam
IN
Kim
Seung H
SH
D000328:Adult; D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics*; D004252:DNA Mutational Analysis; D005190:Family; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D007723:Korea; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1
C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1