A novel PSEN2 mutation associated with a peculiar phenotype

P. Piscopo, G. Marcon, M. R. Piras, A. Crestini, L. Malvezzi Campeggi, E. Deiana, R. Cherchi, F. Tanda, A. Deplano, N. Vanacore, F. Tagliavini, M. Pocchiari, G. Giaccone, A. Confaloni

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Abstract

BACKGROUND: Mutations of presenilin 2 gene are a rare cause of familial Alzheimer disease (AD). We describe an Italian family with hereditary dementia associated with a novel mutation in the presenilin 2 gene. METHODS: Clinical investigations of the diseased subjects; interviews with relatives; studies of medical records; pedigree analysis; and neuroradiologic, neuropathologic, and molecular genetic studies were carried out in the pedigree. RESULTS: Genetic analysis showed a novel PSEN2 A85V mutation present in the proband and in all analyzed affected members, in a subject presenting with an amnesic mild cognitive impairment, and in a young, still asymptomatic subject. The proband showed a clinical phenotype indicative of Lewy body dementia and the neuropathologic examination demonstrated the presence of unusually abundant and widespread cortical Lewy bodies in addition to the hallmark lesions of AD. Other affected members exhibited a clinical phenotype typical of AD. CONCLUSIONS: Our findings add complexity to the spectrum of atypical phenotypes associated with presenilin mutations and should then be taken into account when considering the nosography of neurodegenerative diseases. They also support previous data that specific mutations of genes associated with familial Alzheimer disease may influence the presence and extent of Lewy bodies.

Original languageEnglish
Pages (from-to)1549-1554
Number of pages6
JournalNeurology
Volume70
Issue number17
DOIs
Publication statusPublished - Apr 2008

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Phenotype
Alzheimer Disease
Mutation
Presenilin-2
Lewy Bodies
Pedigree
Presenilins
Genes
Lewy Body Disease
Neurodegenerative Diseases
Medical Records
Dementia
Molecular Biology
Interviews

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Piscopo, P., Marcon, G., Piras, M. R., Crestini, A., Campeggi, L. M., Deiana, E., ... Confaloni, A. (2008). A novel PSEN2 mutation associated with a peculiar phenotype. Neurology, 70(17), 1549-1554. https://doi.org/10.1212/01.wnl.0000310643.53587.87

A novel PSEN2 mutation associated with a peculiar phenotype. / Piscopo, P.; Marcon, G.; Piras, M. R.; Crestini, A.; Campeggi, L. Malvezzi; Deiana, E.; Cherchi, R.; Tanda, F.; Deplano, A.; Vanacore, N.; Tagliavini, F.; Pocchiari, M.; Giaccone, G.; Confaloni, A.

In: Neurology, Vol. 70, No. 17, 04.2008, p. 1549-1554.

Research output: Contribution to journalArticle

Piscopo, P, Marcon, G, Piras, MR, Crestini, A, Campeggi, LM, Deiana, E, Cherchi, R, Tanda, F, Deplano, A, Vanacore, N, Tagliavini, F, Pocchiari, M, Giaccone, G & Confaloni, A 2008, 'A novel PSEN2 mutation associated with a peculiar phenotype', Neurology, vol. 70, no. 17, pp. 1549-1554. https://doi.org/10.1212/01.wnl.0000310643.53587.87
Piscopo P, Marcon G, Piras MR, Crestini A, Campeggi LM, Deiana E et al. A novel PSEN2 mutation associated with a peculiar phenotype. Neurology. 2008 Apr;70(17):1549-1554. https://doi.org/10.1212/01.wnl.0000310643.53587.87
Piscopo, P. ; Marcon, G. ; Piras, M. R. ; Crestini, A. ; Campeggi, L. Malvezzi ; Deiana, E. ; Cherchi, R. ; Tanda, F. ; Deplano, A. ; Vanacore, N. ; Tagliavini, F. ; Pocchiari, M. ; Giaccone, G. ; Confaloni, A. / A novel PSEN2 mutation associated with a peculiar phenotype. In: Neurology. 2008 ; Vol. 70, No. 17. pp. 1549-1554.
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