Neuropsychological function in nondemented carriers of presenilin-1 mutations

Ringman, John M.; Dı́az-Olavarrieta, Claudia; Rodríguez, Yaneth; Chávez-Oliveros, M.; Fairbanks, Lynn A.; Paz, Francisco; Varpetian, Arousiak; Maldonado, H. C.; Macías-Islas, Miguel Ángel; Murrell, Jill R.; Ghetti, Bernardino; Kawas, Claudia H.

doi:10.1212/01.wnl.0000172919.50001.d6

Cited by 30 publications

(34 citation statements)

References 45 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Different neuropsychological patterns have been reported in non-demented carriers of PSEN1 mutation and in early sporadic AD identified by means of prospective and case-control studies [26,27] . Longitudinal neuropsychological evaluations are needed to verify the prognostic value of focal cognitive deficits with respect to the memory disturbances in the development of dementia in AD.…”

Section: Discussionmentioning

confidence: 98%

Cognitive Deficits in Familial Alzheimer’s Disease Associated with M239V Mutation of Presenilin 2

Giovagnoli¹,

Marcon²,

Giaccone³

et al. 2006

Dement Geriatr Cogn Disord

View full text Add to dashboard Cite

The neuropsychological assessment of non-demented subjects with gene mutation of familial Alzheimer’s disease (AD) provides a model for exploring the early cognitive features of the disease. We evaluated 1 patient and 6 non-demented subjects belonging to a family with AD with M239V mutation of the presenilin 2 gene, aiming to verify the contribution of specific cognitive patterns to the characterization of familial AD. One patient, 3 non-demented subjects with M239V mutation and 3 subjects without mutation from the same family underwent neuropsychological testing. The patient’s cognitive profile was characterized by anosognosia, visuospatial agnosia, apraxia and fluent aphasia. Of the 3 non-demented subjects with mutation, 1 showed no deficits, another constructive apraxia and the third spatial perception and memory deficits. The 3 subjects without mutation showed normal abilities. The cognitive deficits of the non-demented subjects with mutations indicate focal dysfunction of the posterior cortical areas, resembling the more extended parieto-occipito-temporal dysfunction of the demented patient. Such grading of visuospatial, praxis, and language impairments highlights a distinctive pattern related to the M239V mutation of the presenilin 2 gene.

show abstract

Section: Discussionmentioning

confidence: 98%

Cognitive Deficits in Familial Alzheimer’s Disease Associated with M239V Mutation of Presenilin 2

Giovagnoli¹,

Marcon²,

Giaccone³

et al. 2006

Dement Geriatr Cogn Disord

View full text Add to dashboard Cite

show abstract

“…FAD shares many phenotypic characteristics of lateonset AD including the nature of the cognitive decline [7] and the cerebral accumulation of insoluble beta-amyloid 42 (A ␤ 42 ) proteins [8] . Some neuropathological differences between FAD and sporadic AD of late onset have been noted.…”

Section: Introductionmentioning

confidence: 99%

Increased Prevalence of Significant Recurrent Headache in Preclinical Familial Alzheimer’s Disease Mutation Carriers

Ringman

Romano

Medina

et al. 2008

Dement Geriatr Cogn Disord

View full text Add to dashboard Cite

Background/Aims: A previous study found a high prevalence of headaches in persons with familial Alzheimer’s disease (FAD) due to a PSEN1 mutation. In our study we compared the prevalence of headaches between nondemented FAD mutation carriers (MCs) and non-mutation-carrying controls (NCs). Methods: A headache questionnaire that assessed the prevalence of significant headaches and diagnosis of migraine and aura by ICHD-2 criteria was administered to 27 individuals at risk for FAD. Frequency of significant headaches, migraine, and aura were compared between MCs and NCs by χ² or Fisher’s exact tests. Results: Twenty-three subjects were at risk for PSEN1 mutations and 4 for an APP substitution. The majority of subjects were female (23/27). MCs were more likely to report significant recurrent headache than NCs (67 vs. 25%, p = 0.031). Forty percent of MCs had headaches that met criteria for migraine whereas 17% of NCs met such criteria. The tendency for a higher prevalence of headaches in MCs held for different PSEN1 and APP mutations but was not significant unless all families were combined. Conclusions: In this population, headache was more common in nondemented FAD MCs than NCs. Possible mechanisms for this include cerebral inflammation, aberrant processing of Notch3, or disrupted intracellular calcium regulation.

show abstract

“…None of the 15 families was known to be related to each other nor to any of the families evaluated by Yesca et al in Mexico. Cognitive [2] and affective [3] changes occurring in the preclinical stage of the illness have previously been reported in at-risk members of a subset of these families and the neuropathologic findings from family N ( Table 1) have been presented in abstract form [4].…”

mentioning

confidence: 99%

“…All 20 affected persons presented with cognitive changes, particularly involving memory [2]. One patient had significant depression at presentation (case M1) [3], one presented with predominant personality changes (case F1), and one patient's early cognitive deficits included a substantial aphasia (case D1).…”

mentioning

confidence: 99%

The A431E mutation in PSEN1 causing Familial Alzheimer’s Disease originating in Jalisco State, Mexico: an additional fifteen families

Murrell¹,

Ghetti²,

Cochran

et al. 2006

Neurogenetics

View full text Add to dashboard Cite

Nine families with autosomal dominant Alzheimer's disease (AD), all of whom had the Ala431Glu substitution in the PSEN1 gene and came from Jalisco State in Mexico, have been previously reported. As they shared highly polymorphic flanking dinucleotide marker alleles, this strongly suggests that this mutation arose from a common founder. In the current letter, we expand this observation by describing an additional 15 independent families with the Ala431Glu substitution in the PSEN1 gene and conclude that this mutation is not an uncommon cause of early-onset autosomal dominant AD in persons of Mexican origin.

show abstract

Neuropsychological function in nondemented carriers of presenilin-1 mutations

Cited by 30 publications

References 45 publications

Cognitive Deficits in Familial Alzheimer’s Disease Associated with M239V Mutation of Presenilin 2

Cognitive Deficits in Familial Alzheimer’s Disease Associated with M239V Mutation of Presenilin 2

Increased Prevalence of Significant Recurrent Headache in Preclinical Familial Alzheimer’s Disease Mutation Carriers

The A431E mutation in PSEN1 causing Familial Alzheimer’s Disease originating in Jalisco State, Mexico: an additional fifteen families

Contact Info

Product

Resources

About