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No association of spastic paraparesis genes in PSEN1 Alzheimer's disease with spastic paraparesis


Familial Alzheimer's disease due to presenilin 1 (PSEN1) mutations shows considerable phenotypic variability with differences in neuropathology and neurological symptoms. Spastic paraparesis is a common neurological phenotype associated with Alzheimer's disease arising from PSEN1 mutations. To investigate whether known genes that cause spastic paraparesis could act as Alzheimer's disease-modifier genes, we sequenced nine spastic paraparesis genes in three Alzheimer's disease families with PSEN1 exon 9 deletions. We did not observe any correlation of polymorphisms or mutations in the nine spastic paraparesis genes with the variable phenotype seen in families with Alzheimer's disease and spastic paraparesis. These results suggest a need for a continuing search for genes that cause the phenotypic variation in Alzheimer's disease and spastic paraparesis.

Type Journal
ISBN 0959-4965 (Print)
Authors Karlstrom, H.;Kwok, J. B.;Gregory, G. C.;Hallupp, M.;Brooks, W. S.;Schofield, P. R. :
Publisher Name NEUROREPORT
Published Date 2007-01-01
Published Volume 18
Published Issue 12
Published Pages 1267-9
Status Published in-print
URL link to publisher's version
OpenAccess link to author's accepted manuscript version