Genotype–Phenotype Correlation in Early-onset Alzheimer Disease With Presenilin 1 Gene Mutations

Phenotypic Variability in Autosomal Dominant Familial Alzheimer Disease due to the S170F Mutation of Presenilin-1

“…Both face and object perceptions have been associated with the mainly temporal “ventral stream” whereas other visuospatial abilities (e.g., mental rotation) involve the parietal “dorsal stream” [for reviews on this model in the context of neurodegeneration, see [54,55]]. Altogether, the presence of noticeable non-amnestic cognitive impairment associated with the S170F mutation corresponds to the literature suggesting frequent atypical findings in PSEN1 mutations [27,28,29,34,56]. There is, however, some disagreement about its exact prevalence in different publications based on either reviews and meta-analyses of published cases or data from the Dominantly Inherited Alzheimer Disease Network (DIAN) study including a larger population of patients.…”

Phenotypic Variability in Autosomal Dominant Familial Alzheimer Disease due to the S170F Mutation of Presenilin-1

“…Both face and object perceptions have been associated with the mainly temporal “ventral stream” whereas other visuospatial abilities (e.g., mental rotation) involve the parietal “dorsal stream” [for reviews on this model in the context of neurodegeneration, see [54,55]]. Altogether, the presence of noticeable non-amnestic cognitive impairment associated with the S170F mutation corresponds to the literature suggesting frequent atypical findings in PSEN1 mutations [27,28,29,34,56]. There is, however, some disagreement about its exact prevalence in different publications based on either reviews and meta-analyses of published cases or data from the Dominantly Inherited Alzheimer Disease Network (DIAN) study including a larger population of patients.…”

The R269H mutation in presenilin-1 presenting as late-onset autosomal dominant Alzheimer's disease

“…The factors, genetic or epigenetic, which contribute to the clinical heterogeneity seen in AD caused by PS1 mutations, such as reduced penetrance and neuroradiological white matter change, are not currently known [3,12]. However, the salient message for clinical practice illustrated by this family is that a family history strongly suggestive of autosomal dominant transmission should prompt neurogenetic testing for PS1 mutations in cases of late-onset AD.…”

Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin–1 gene

“…Hence, defining a "deterministic" PSEN1 mutation may be perhaps no more than a first step in understanding EOAD phenotypes [95].…”

Phenotypic Variability in Autosomal Dominant Familial Alzheimer Disease due to the S170F Mutation of Presenilin-1

“…Both face and object perceptions have been associated with the mainly temporal “ventral stream” whereas other visuospatial abilities (e.g., mental rotation) involve the parietal “dorsal stream” [for reviews on this model in the context of neurodegeneration, see [54,55]]. Altogether, the presence of noticeable non-amnestic cognitive impairment associated with the S170F mutation corresponds to the literature suggesting frequent atypical findings in PSEN1 mutations [27,28,29,34,56]. There is, however, some disagreement about its exact prevalence in different publications based on either reviews and meta-analyses of published cases or data from the Dominantly Inherited Alzheimer Disease Network (DIAN) study including a larger population of patients.…”

The R269H mutation in presenilin-1 presenting as late-onset autosomal dominant Alzheimer's disease

“…The factors, genetic or epigenetic, which contribute to the clinical heterogeneity seen in AD caused by PS1 mutations, such as reduced penetrance and neuroradiological white matter change, are not currently known [3,12]. However, the salient message for clinical practice illustrated by this family is that a family history strongly suggestive of autosomal dominant transmission should prompt neurogenetic testing for PS1 mutations in cases of late-onset AD.…”

Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin–1 gene

“…Hence, defining a "deterministic" PSEN1 mutation may be perhaps no more than a first step in understanding EOAD phenotypes [95].…”

Phenotypic Variability in Autosomal Dominant Familial Alzheimer Disease due to the S170F Mutation of Presenilin-1

“…Both face and object perceptions have been associated with the mainly temporal “ventral stream” whereas other visuospatial abilities (e.g., mental rotation) involve the parietal “dorsal stream” [for reviews on this model in the context of neurodegeneration, see [54,55]]. Altogether, the presence of noticeable non-amnestic cognitive impairment associated with the S170F mutation corresponds to the literature suggesting frequent atypical findings in PSEN1 mutations [27,28,29,34,56]. There is, however, some disagreement about its exact prevalence in different publications based on either reviews and meta-analyses of published cases or data from the Dominantly Inherited Alzheimer Disease Network (DIAN) study including a larger population of patients.…”

The R269H mutation in presenilin-1 presenting as late-onset autosomal dominant Alzheimer's disease

“…The factors, genetic or epigenetic, which contribute to the clinical heterogeneity seen in AD caused by PS1 mutations, such as reduced penetrance and neuroradiological white matter change, are not currently known [3,12]. However, the salient message for clinical practice illustrated by this family is that a family history strongly suggestive of autosomal dominant transmission should prompt neurogenetic testing for PS1 mutations in cases of late-onset AD.…”

Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin–1 gene

“…Hence, defining a "deterministic" PSEN1 mutation may be perhaps no more than a first step in understanding EOAD phenotypes [95].…”