Journal article
Alternative transcripts of presenilin-1 associated with frontotemporal dementia
Geneviève Evin, Margaret J Smith, Angela Tziotis, Catriona McLean, Louise Canterford, Robyn A Sharples, Roberto Cappai, Andreas Weidemann, Konrad Beyreuther, Richard GH Cotton, Colin L Masters, Janetta G Culvenor
Neuroreport | Ovid Technologies (Wolters Kluwer Health) | Published : 2002
Abstract
We have analyzed the expression of Alzheimer's disease-associated presenilin 1 (PS1) in various neurodegenerative disorders. Western blotting identified PS1 N- and C-terminal fragments similarly in the cortex of controls, Parkinson, Huntington and schizophrenia subjects. Additional PS1 immunoreactive species of 42 and 46 kDa were present in six out of seven cases of sporadic frontotemporal dementia (FTD) and these were particularly prominent in two cases. RT-PCR analysis using nested primers showed the presence of PS1 gene products with deletions within the exon 4-8 region. Our results suggest that alternative transcription of PS1 may be associated with FTD.