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.

journal_name

Neuroreport

journal_title

Neuroreport

authors

Karlstrom H,Kwok JB,Gregory GC,Hallupp M,Brooks WS,Schofield PR

doi

10.1097/WNR.0b013e3282405209

subject

Has Abstract

pub_date

2007-08-06 00:00:00

pages

1267-9

issue

12

eissn

0959-4965

issn

1473-558X

pii

00001756-200708060-00013

journal_volume

18

pub_type

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