ISSN:
1432-0533
Keywords:
Amyotrophic lateral sclerosis
;
Neuropathology
;
Posterior column involvement
;
Genetics
;
Superoxide dismutase
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract Several missense mutations within exons 1, 2, 4 and 5 of the gene for Cu/Zn-binding superoxide dismutase (SOD1) have been discovered to be involved in the development of chromosome 21q-linked familial amyotrophic lateral sclerosis (FALS). We describe here an autopsied patient with FALS, in whom we have recently identified a novel missense mutation in exon 1 of the SOD1 gene. The neuropathological findings were compatible with those described previously in patients with FALS with posterior column involvement. This suggests that mutations of the SOD1 gene may be responsible for this form of FALS.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00294513