Abstract:
:We have discovered a new Italian pedigree with autosomal-dominant ALS. The pedigree, at present, comprises 75 members distributed in five generations. ALS was diagnosed in eight patients. The mean +/- SD age of onset of the disease was 46.8 +/- 13.5 years, with a range of 29 to 63 years. The mean +/- SD duration of the disease was 11.6 +/- 1.7 months. Molecular genetic studies showed a missense mutation (Gly-->Ser, codon 41) in exon 2 of the Cu/Zn superoxide dismutase gene (SOD1) on chromosome 21 in the available affected member and in 45% of the at-risk subjects of the pedigree. This study confirms the presence of SOD1 point mutations in families with autosomal-dominant ALS and suggests that additional genetic or environmental factors may be involved in the full expression of the disease.
journal_name
Neurologyjournal_title
Neurologyauthors
Rainero I,Pinessi L,Tsuda T,Vignocchi MG,Vaula G,Calvi L,Cerrato P,Rossi B,Bergamini L,McLachlan DRdoi
10.1212/wnl.44.2.347subject
Has Abstract,Author List Incompletepub_date
1994-02-01 00:00:00pages
347-9issue
2eissn
0028-3878issn
1526-632Xjournal_volume
44pub_type
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