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Title: Mutational analysis of the Cu/Zn superoxide dismutase gene in 23 familial and 69 sporadic cases of amyotrophic lateral sclerosis in Belgium
Authors: Aguirre, T ×
Matthijs, Gert
Robberecht, Wim
Tilkin, P
Cassiman, Jean-Jacques #
Issue Date: Oct-1999
Series Title: European Journal of Human Genetics vol:7 issue:5 pages:599-602
Abstract: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder caused by degeneration of motor neurons of the spinal cord and brain. The majority of ALS cases are sporadic (SALS). However, in 10-15% of ALS cases the disease is inherited as an autosomal dominant trait (familial ALS or FALS). We used a non-radioactive SSCP method, in combination with solid phase sequencing, to screen the entire SOD1 (Cu/Zn superoxide dismutase) coding region and flanking intronic sequences for mutations. Twenty-three patients from 11 ALS families and 69 SALS patients of Belgian origin were studied. Three different mutations were identified (L38V, D90A and G93C) in seven families. Importantly, the D90A was only found in the heterozygous state. In addition two single base pair variants (IVS1 + 19G > A and AAC139 AAT) were identified in two SALS patients. These results suggest that the SOD1 analysis is useful in FALS but less so in SALS cases. The SSCP analysis has proved fast and reliable for this purpose.
ISSN: 1018-4813
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Research Group Experimental Neurology
Human Mutations and Polymorphisms Section (-)
Laboratory for Neurobiology
Forensic Biomedical Sciences
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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