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).
References
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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