title: No association of spastic paraparesis genes in PSEN1 Alzheimer's disease with spastic paraparesis.
abstract: 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.
authors.affiliation: Garvan Institute of Medical Research, Sydney, Australia.
authors.forename: Helena
authors.initials: H
authors.lastname: Karlstrom
authors.forename: John B J
authors.initials: JB
authors.lastname: Kwok
authors.forename: Gillian C
authors.initials: GC
authors.lastname: Gregory
authors.forename: Marianne
authors.initials: M
authors.lastname: Hallupp
authors.forename: William S
authors.initials: WS
authors.lastname: Brooks
authors.forename: Peter R
authors.initials: PR
authors.lastname: Schofield
mesh_terms: D000328:Adult; D000544:Alzheimer Disease / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D004252:DNA Mutational Analysis; D005260:Female; D017353:Gene Deletion; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D014644:Genetic Variation / Q000235:genetics; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D020336:Paraparesis, Spastic / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D010641:Phenotype; D053764:Presenilin-1 / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D053764:Presenilin-1