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01-06-2011 | Letter to the Editor

Presenilin-2 gene mutation presenting as Lewy Body dementia?

Authors: Loredana Raciti, Alessandra Nicoletti, Francesco Le Pira, Virginia Andreoli, Donatella Contrafatto, Salvatore Lanzafame, Tiziana Maci, Antonio Gambardella, Aldo Quattrone, Mario Zappia

Published in: Neurological Sciences | Issue 3/2011

Excerpt

Dear Editor, …

Piscopo P, Marcon G, Piras MR et al (2008) A novel PSEN2 mutation associated with a peculiar phenotype. Neurology 70:1549–1554PubMedCrossRef

Cruts M, Van Duijn CM, Backhovens H et al (1998) Estimation oh the genetic contribution of presenilin-l and -2 mutations in a population-based study oh presenile Alzheimer disease. Hum Mol Genet 7:43–51PubMedCrossRef

Gainotti G, Marra C, Villa G (2001) A double dissociation between accuracy and time of execution on attentional tasks in Alzheimer’s disease and multi-infarct dementia. Brain 124:731–738PubMedCrossRef

Carlesimo GA, Caltagirone C, Gainotti G (1996) The Mental Deterioration Battery: normative data, diagnostic reliability and qualitative analyses of cognitive impairment. The Group for the Standardization of the Mental Deterioration Battery. Eur Neurol 36:378–384PubMedCrossRef

Caffarra P, Vezzadini G, Dieci F, Zonato F, Venneri A (2002) Rey–Osterrieth complex figure: normative values in an Italian population sample. Neurol Sci 22:443–447PubMedCrossRef

Nelson HE (1976) A modified card sorting test sensitive to frontal lobe defects. Cortex 12:313–324PubMed

Dubois B, Slachevsky A, Litvan I, Pillon B (2000) The FAB: a Frontal Assessment Battery at bedside. Neurology 55:1621–1626PubMed

McKeith IG, Dickson DW, Lowe J et al (2005) Diagnosis and management of dementia with Lewy bodies: third report of DLB consortium. Neurology 65:1863–1872PubMedCrossRef

Wakutani Y, Watanabe K, Adachi Y et al (2004) Novel amyloid precursor protein gene missense mutation (D678N) in probable familial Alzheimer’s disease. J Neurol Neurosurg Psychiatry 75:1039–1042PubMedCrossRef

10.

Gallo M, Tomaino C, Puccio G, Frangipane F, Curcio SA, Bernardi L, Geracitano S, Anfossi M, Mirabelli M, Colao R, Vasso F, Smirne N, Maletta RG, Bruni AC (2010) Novel MAPT Val75Ala mutation and PSEN2 Arg62Hys in two siblings with frontotemporal dementia. Neurol Sci 31:65–70PubMedCrossRef

11.

Walker ES, Martinez M, Brunkan AL, Goate A (2005) Presenilin 2 familial Alzheimer’s disease mutations result in partial loss of function and dramatic changes in Abeta 42/40 ratios. J Neurochem 92:294–301PubMedCrossRef

12.

To MD, Gokgoz N, Doyle TG, Donoviel DB, Knight JA, Hyslop PS, Bernstein A, Andrulis IL (2006) Functional characterization of novel presenilin-2 variants identified in human breast cancers. Oncogene 25:3557–3564PubMedCrossRef

13.

Levitan D, Greenwald I (1995) Facilitation of lin-12 mediated signaling by sel-12, a Caenorhabditis elegans S182 Alzheimer’s disease gene. Nature 377:351–354PubMedCrossRef

14.

Guerreiro RJ, Baquero M, Blesa R et al (2010) Genetic screening of Alzheimer’s disease genes in Iberian and African samples yields novel mutations in presenilins and APP. Neurobiol Aging 31:725–731PubMedCrossRef

15.

MandaI PK, Pettegrew JW, Masliah E, Hamilton RL, Mandal R (2006) Interaction between Aβ peptide and α synuclein: molecular mechanisms in overlapping pathology of Alzheimer’s and Parkinson’s in dementia with Lewy Body disease. Neurochem Res 31:1153–1162CrossRef

Title: Presenilin-2 gene mutation presenting as Lewy Body dementia?
Authors: Loredana Raciti
Alessandra Nicoletti
Francesco Le Pira
Virginia Andreoli
Donatella Contrafatto
Salvatore Lanzafame
Tiziana Maci
Antonio Gambardella
Aldo Quattrone
Mario Zappia
Publication date: 01-06-2011
Publisher: Springer Milan
Published in: Neurological Sciences / Issue 3/2011
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-011-0497-4

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Presenilin-2 gene mutation presenting as Lewy Body dementia?

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