Neuropathological and Clinical Phenotype of an Italian Alzheimer Family with M239V Mutation of Presenilin 2 Gene

Gabriella Marcon, Giorgio Giaccone, Chiara Cupidi, Matteo Balestrieri, Carlo Alberto Beltrami, Nicoletta Finato, Paolo Bergonzi, Sandro Sorbi, Orso Bugiani, Fabrizio Tagliavini

Research output: Contribution to journalArticlepeer-review


Presenilin 1 and 2 are 2 highly homologous genes involved in familial Alzheimer disease. While more than 100 mutations in presenilin 1 are known to segregate with the disease in familial Alzheimer disease, only 9 mutations of presenilin 2 have been identified to date. We report the clinical and neuropathological phenotype of FLO10, the large Italian Alzheimer kindred associated with methionine to valine substitution at residue 239 of presenilin 2. The patients showed a remarkable variability in age of onset of symptoms, disease duration, and clinical presentation. The neuropathological study of 2 patients revealed peculiar features in addition to neurofibrillary changes and Aβ amyloid deposits in the neuropil and vessel wall. Ectopic neurons in the subcortical white matter, often containing neurofibrillary tangles, were found in both patients, one of whom presented with epilepsy. Furthermore, 1 patient showed an unusually high number of ghost tangles in the cerebral cortex. These observations indicate that the Alzheimer kindred FLO10 associated with M239V mutation of presenilin 2 is characterized by some peculiarities of the clinical and neuropathologic phenotype compared to sporadic Alzheimer disease.

Original languageEnglish
Pages (from-to)199-209
Number of pages11
JournalJournal of Neuropathology and Experimental Neurology
Issue number3
Publication statusPublished - Mar 2004


  • Alzheimer disease
  • Ectopic neurons
  • Epilepsy
  • Ghost tangles
  • Mutation
  • Presenilin 2

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Neuroscience(all)


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