Literature DB >> 26695639

Early psychiatrics symptoms in familial Alzheimer's disease with presenilin 1 mutation (I83T).

Saloua Fray1, Nadia Ben Ali2, Afef Achouri Rassas2,3, Meriem Kechaou2, Nouria Oudiaa2, Aroua Cherif2, Slim Echebbi2, Taieb Messaoud3, Samir Belal2.   

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).

Entities:  

Keywords:  Alzheimer’s disease; Presenilin 1 mutation; Psychiatric disorders

Mesh：

Substances：

Year:  2015        PMID： 26695639     DOI： 10.1007/s00702-015-1498-x

Source DB:  PubMed          Journal:  J Neural Transm (Vienna)        ISSN： 0300-9564            Impact factor:   3.575


  12 in total

1.  Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI.

Authors:  J E Hixson; D T Vernier
Journal:  J Lipid Res       Date:  1990-03       Impact factor: 5.922

2.  Novel presenilin 1 mutation (p.I83T) in Tunisian family with early-onset Alzheimer's disease.

Authors:  Afef Achouri-Rassas; Nadia Ben Ali; Saloua Fray; Sondes Hadj Fredj; Meriem Kechaou; Nouria Oudiaa Zakraoui; Aroua Cherif; Slim Chabbi; Nadia Anane; Taieb Messaoud; Riadh Gouider; Samir Belal
Journal:  Neurobiol Aging       Date:  2015-06-12       Impact factor: 4.673

3.  A novel mutation (V89L) in the presenilin 1 gene in a family with early onset Alzheimer's disease and marked behavioural disturbances.

Authors:  R Queralt; M Ezquerra; A Lleó; M Castellví; J Gelpí; I Ferrer; N Acarín; L Pasarín; R Blesa; R Oliva
Journal:  J Neurol Neurosurg Psychiatry       Date:  2002-02       Impact factor: 10.154

Review 4.  Missense substitutions associated with behavioural disturbances in Alzheimer's disease (AD).

Authors:  Petroula Proitsi; John F Powell
Journal:  Brain Res Bull       Date:  2012-03-05       Impact factor: 4.077

5.  Identification of PSEN1 mutations p.M233L and p.R352C in Han Chinese families with early-onset familial Alzheimer's disease.

Authors:  Hong-Yan Jiang; Guo-Dong Li; Shao-Xing Dai; Rui Bi; Deng-Feng Zhang; Zong-Fang Li; Xiu-Feng Xu; Tai-Cheng Zhou; Li Yu; Yong-Gang Yao
Journal:  Neurobiol Aging       Date:  2014-12-18       Impact factor: 4.673

6.  Clinical-genetic correlations in familial Alzheimer's disease caused by presenilin 1 mutations.

Authors:  Estrella Gómez-Tortosa; Sagrario Barquero; Manuel Barón; Eulogio Gil-Neciga; Fernando Castellanos; Martín Zurdo; Sagrario Manzano; David G Muñoz; Adolfo Jiménez-Huete; Alberto Rábano; M José Sainz; Rosa Guerrero; Isabel Gobernado; Julián Pérez-Pérez; Adriano Jiménez-Escrig
Journal:  J Alzheimers Dis       Date:  2010       Impact factor: 4.472

7.  A pathogenic presenilin-1 deletion causes abberrant Abeta 42 production in the absence of congophilic amyloid plaques.

Authors:  H Steiner; T Revesz; M Neumann; H Romig; M G Grim; B Pesold; H A Kretzschmar; J Hardy; J L Holton; R Baumeister; H Houlden; C Haass
Journal:  J Biol Chem       Date:  2000-11-17       Impact factor: 5.157

8.  Clinical and molecular studies reveal a PSEN1 mutation (L153V) in a Peruvian family with early-onset Alzheimer's disease.

Authors:  Mario R Cornejo-Olivas; Chang-En Yu; Pilar Mazzetti; Ignacio F Mata; Maria Meza; Saul Lindo-Samanamud; James B Leverenz; Thomas D Bird
Journal:  Neurosci Lett       Date:  2014-02-02       Impact factor: 3.046

9.  Novel insertional presenilin 1 mutation causing Alzheimer disease with spastic paraparesis.

Authors:  P Moretti; A P Lieberman; E A Wilde; B I Giordani; K J Kluin; R A Koeppe; S Minoshima; D E Kuhl; W K Seltzer; N L Foster
Journal:  Neurology       Date:  2004-05-25       Impact factor: 9.910

Review 10.  Structural biology of presenilin 1 complexes.

Authors:  Yi Li; Christopher Bohm; Roger Dodd; Fusheng Chen; Seema Qamar; Gerold Schmitt-Ulms; Paul E Fraser; Peter H St George-Hyslop
Journal:  Mol Neurodegener       Date:  2014-12-18       Impact factor: 14.195
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  2 in total

1.  Blocking beta 2-adrenergic receptor inhibits dendrite ramification in a mouse model of Alzheimer's disease.

Authors:  Qin Wu; Jin-Xia Sun; Xiang-He Song; Jing Wang; Cun-Quan Xiong; Fei-Xiang Teng; Cui-Xiang Gao
Journal:  Neural Regen Res       Date:  2017-09       Impact factor: 5.135

2.  Identification of a Rare PSEN1 Mutation (Thr119Ile) in Late-Onset Alzheimer's Disease With Early Presentation of Behavioral Disturbance.

Authors:  Shouzi Zhang; Xiang Li; Li Zhang; Xiangyan Meng; Li Ma; Guangze Zhang; Haiyan Wu; Ling Liang; Meng Cao; Fan Mei
Journal:  Front Psychiatry       Date:  2020-05-14       Impact factor: 4.157
  2 in total

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