Abstract
Several clinical phenotypes were associated with presenilin 1 (PSEN1) mutation in early-onset familial Alzheimer’s disease (EOFAD). We report the clinical phenotype of two members of a familial dementia kindred who presented with EOFAD and early psychiatric syndrome as behavioral abnormalities. Sequence analysis of the index patient and his brother’s PSEN1 transcript revealed a novel T > C transition in exon 4 which was determined as a missense substitution at position 248 of the coding sequence (cDNA. 248T > C).
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References
Achouri-Rassas A, Ben Ali N, Fray S, Hadj Fredj S, Kechaou M, Zakraoui NO, Cherif A, Chabbi S, Anane N, Messaoud T, Gouider R, Belal S (2015) Novel presenilin 1 mutation (p. I83T) in Tunisian family with early-onset Alzheimer’s disease. Neurobiol Aging 36:2904.e9–2904.e11
Association AP (1994) Diagnostic and statistical manual of mental disorders, 4th edn. American Psychiatric Association, Washington DC
Cornejo-Olivas MR, Yu CE, Mazzetti P, Mata IF et al (2014) Clinical and molecular studies reveal a PSEN1 mutation (L153 V) in a Peruvian family with early-onset Alzheimer’s disease. Neurosci Lett 563:140–143
Godbolt AK, Beck JA, Collinge J et al (2004) A presenilin 1 R278I mutation presenting with language impairment. Neurology 63:1702–1704
Gomez-Tortosa E, Barquero S, Barron M et al (2010) Clinical-genetic correlations in familial Alzheimer’s disease caused by presenilin 1 mutations. J Alzheimers Dis 19:873–884
Hixson JE, Vernier DT et al (1990) Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI. J Lipid Res 31:545–548
Jiang HY, Li SX, Bi R et al (2015) Identification of PSEN1 mutations p.M233L and p.R352C in Han Chinese families with early-onset familial Alzheimer’s disease. Neurobiol Aging 36:1602e3–1602e6
Li Y, Bohm C, Dodd R et al (2014) Structural biology of presenelin 1 complexes. Mol Nerurodegener 18:9–59
McKhann G, Drachman D, Folstein M et al (1984) Clinical diagnosis of Alzheimer’s disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer’s Disease. Neurology 34:939–944
Moretti P, Lieberman AP, Wilde EA et al (2004) Novel insertional presenilin1 mutation causing Alzheimer disease with spastic paraparesis. Neurology 62:1865–1868
Proitsi P, Powell JF (2012) Missense substitutions associated with behavioural disturbances in Alzheimer’s disease (AD). Brain Res Bull 88:394–405
Queralt R, Ezquerra M, Lléo A, Castelvi M et al (2002) A novel mutation (V89L) in the presenilin 1 gene in a family with early onset Alzheimer’s disease and marked behavioural disturbances. J Neurol Neurosurg Psychiat 72:266–269
Steiner H, Revesz T, Neumann M et al (2001) A pathogenic presenilin-1 deletion causes abberrant Abeta 42 production in the absence of congophilic amyloid plaques. J Biol Chem 276:7233–7239
Acknowledgments
This study was sponsored by the Tunisian Ministry of Public Health, Tunis El Manar University, Faculty of Medicine, Neurological Department, Charles Nicolle Hospital, Tunis and Research laboratory LR12SP01, Biochemistry and Molecular Biology Laboratory, Children’s Hospital, Tunis.
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Dr Saloua Fray: study concept and design, acquisition of data, analysis and interpretation, Dr Nadia Ben Ali: acquisition of data, Dr Afef Achouri Rassas: genetic analysis. Dr Meriem Kechaou: acquisition of data. Nouria Oudiaa: acquisition of data. Aroua Cherif: acquisition of data. Dr Slim Echebbi: acquisition of data. Dr Taieb Messaoud: study supervision. Dr Samir Belal: study concept and design, critical revision of the manuscript for important intellectual content, study supervision.
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Fray, S., Ali, N.B., Rassas, A.A. et al. Early psychiatrics symptoms in familial Alzheimer’s disease with presenilin 1 mutation (I83T). J Neural Transm 123, 451–453 (2016). https://doi.org/10.1007/s00702-015-1498-x
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DOI: https://doi.org/10.1007/s00702-015-1498-x