Alternative transcripts of presenilin-I 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 G.H. Cotton, Colin L. Masters, Janetta G. Culvenor

Research output: Contribution to journalArticleOtherpeer-review

4 Citations (Scopus)


We have analyzed the expression of Alzheimer's disease-associated presenilin I (PSI) in various neurodegenerative disorders. Western blotting identified PSI N- and C-terminal fragments similarly in the cortex of controls, Parkinson, Huntington and schizophrenia subjects. Additional PSI 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 PSI gene products with deletions within the exon 4-8 region. Our results suggest that alternative transcription of PSI may be associated with FTD.

Original languageEnglish
Pages (from-to)719-723
Number of pages5
Issue number5
Publication statusPublished - May 2002
Externally publishedYes


  • Alzheimer's disease
  • Amyloid
  • Amyloid precursor protein
  • Frontal lobe dementia
  • Presenilin

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