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
Neuroreportjournal_title
Neuroreportauthors
Karlstrom H,Kwok JB,Gregory GC,Hallupp M,Brooks WS,Schofield PRdoi
10.1097/WNR.0b013e3282405209subject
Has Abstractpub_date
2007-08-06 00:00:00pages
1267-9issue
12eissn
0959-4965issn
1473-558Xpii
00001756-200708060-00013journal_volume
18pub_type
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