A novel
            <i>PSEN2</i>
            mutation associated with a peculiar phenotype

Piscopo, Paola; Marcon, Gabriella; Piras, Maria Rita; Crestini, Alessio; Campeggi, Lorenzo Malvezzi; Deiana, Emiliano; Cherchi, R.; Tanda, Francesco; Deplano, Ariane; Vanacore, Nicola; Tagliavini, Fabrizio; Pocchiari, Maurizio; Giaccone, Giorgio; Confaloni, Annamaria

doi:10.1212/01.wnl.0000310643.53587.87

Cited by 62 publications

(31 citation statements)

References 35 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…A novel PSEN2 mutation (A85V) has also recently been reported where Parkinsonism was a feature [43]. In the majority of cases, Parkinsonism does not become apparent until several years into the clinical course.…”

Section: Neurological Symptoms and Signsmentioning

confidence: 99%

Correlating Familial Alzheimer's Disease Gene Mutations with Clinical Phenotype

Ryan

Rossor²

2010

Biomarkers Med.

157

134

View full text Add to dashboard Cite

Alzheimer's disease (AD) causes devastating cognitive impairment and an intense research effort is currently devoted to developing improved treatments for it. A minority of cases occur at a particularly young age and are caused by autosomal dominantly inherited genetic mutations. Although rare, familial AD provides unique opportunities to gain insights into the cascade of pathological events and how they relate to clinical manifestations. The phenotype of familial AD is highly variable and, although it shares many clinical features with sporadic AD, it also possesses important differences. Exploring the genetic and pathological basis of this phenotypic heterogeneity can illuminate aspects of the underlying disease mechanism, and is likely to inform our understanding and treatment of AD in the future.

show abstract

Section: Neurological Symptoms and Signsmentioning

confidence: 99%

Correlating Familial Alzheimer's Disease Gene Mutations with Clinical Phenotype

Ryan

Rossor²

2010

Biomarkers Med.

157

134

View full text Add to dashboard Cite

show abstract

“…The importance of presenilins in AD is highlighted by the almost 200 mutations in PSEN1 and the 20 mutations in PSEN2 genes that have been associated with this disease, all of which are causative for autosomal-dominant inherited AD [21,22]. Presenilin expression is regulated by several cellular and extracellular factors, which change with age and sex.…”

Section: Discussionmentioning

confidence: 99%

Sex effect on presenilins expression in post-natal rat brain

Canterini¹,

Carletti²,

Rosa³

et al. 2013

ABB

View full text Add to dashboard Cite

Presenilin 1 and presenilin 2 are widely expressed during brain development. Several mutations in these proteins have been associated with autosomal-dominant inherited forms of Alzheimer disease. Their expression is regulated by various cellular and extracellular factors, which change with age and sex. Both age and sex are key risk factors for Alzheimer's disease, but the issue of whether the expression of presenilins is influenced by the sex during early postnatal development of the brain has been poorly investigated so far. In this study, we report that transcript levels of presenilins, and the subset of neurons expressing these proteins in various brain areas of the developing post-natal brain are different in male and female rats, suggesting that their function(s) may contribute to sexual dimorphism in the brain, both at morphological and functional levels.

show abstract

“…It was autopsy proved in patients with the dupAPP mutation [24], p.V272A mutation [84,101], ΔT440 mutation [137] in the PSEN-1 gene and p.A85V mutation [138] in the PSEN-2 gene.…”

Section: Extrapyramidal Sign and Parkinsonismmentioning

confidence: 99%