Angela R.: a familial Alzheimer’s disease case in the days of Auguste D.

Borrello, L.; Cupidi, Chiara; Laganà, Valentina; Anfossi, Maria; Conidi, Maria Elena; Smirne, Nicoletta; Taverniti, Maria; Guarasci, Roberto; Bruni, Amalia C.

doi:10.1007/s00415-016-8294-x

Cited by 6 publications

(4 citation statements)

References 7 publications

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“…It is worth mentioning the clinical record of Angela R., an ancestor of the N family—datable to 1904, before Alois Alzheimer’s description of the first case of this disease—which showed a clinical picture consistent with a diagnosis of non-amnestic probable AD, matching the ‘‘dysexecutive’’ phenotype described in her descendants. The a posteriori diagnosis of AD was supported by the evidence of the causative genetic mutation PSEN1 Met146Leu as well as neuropathological AD features in her genealogically proven descendants [ 46 ].…”

Section: Calabria As a Genetic Isolate For Neurodegenerative Diseasesmentioning

confidence: 99%

Calabria as a Genetic Isolate: A Model for the Study of Neurodegenerative Diseases

Bruno

Laganà²,

Lorenzo³

et al. 2022

Biomedicines

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Although originally multi-ethnic in its structure, nowadays the Calabria region of southern Italy represents an area with low genetic heterogeneity and a high level of consanguinity that allows rare mutations to be maintained due to the founder effect. A complex research methodology—ranging from clinical activity to the genealogical reconstruction of families/populations across the centuries, the creation of databases, and molecular/genetic research—was modelled on the characteristics of the Calabrian population for more than three decades. This methodology allowed the identification of several novel genetic mutations or variants associated with neurodegenerative diseases. In addition, a higher prevalence of several hereditary neurodegenerative diseases has been reported in this population, such as Alzheimer’s disease, frontotemporal dementia, Parkinson’s disease, Niemann–Pick type C disease, spinocerebellar ataxia, Creutzfeldt–Jakob disease, and Gerstmann–Straussler–Scheinker disease. Here, we summarize and discuss the results of research data supporting the view that Calabria could be considered as a genetic isolate and could represent a model, a sort of outdoor laboratory—similar to very few places in the world—useful for the advancement of knowledge on neurodegenerative diseases.

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Section: Calabria As a Genetic Isolate For Neurodegenerative Diseasesmentioning

confidence: 99%

Calabria as a Genetic Isolate: A Model for the Study of Neurodegenerative Diseases

Bruno

Laganà²,

Lorenzo³

et al. 2022

Biomedicines

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“…Table S6). Recent studies on hereditary neurodegenerative disorders such as Alzheimer's, Frontotemporal Dementia and Parkinson diseases in Southern Italy were carried out and highlighted that certain areas of the Calabrian region are characterized by low genetic heterogeneity and high levels of consanguinity due to the geographic isolation over the centuries [52][53][54][55][56][57][58] . The observation of recurrent mutations and haplotypes in isolated populations with high rates of consanguinity might be potentially informative for the study of hereditary diseases.…”

Section: Discussionmentioning

confidence: 99%

Genetic history of Calabrian Greeks reveals ancient events and long term isolation in the Aspromonte area of Southern Italy

Sarno

Petrilli

Abondio

et al. 2021

Sci Rep

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Calabrian Greeks are an enigmatic population that have preserved and evolved a unique variety of language, Greco, survived in the isolated Aspromonte mountain area of Southern Italy. To understand their genetic ancestry and explore possible effects of geographic and cultural isolation, we genome-wide genotyped a large set of South Italian samples including both communities that still speak Greco nowadays and those that lost the use of this language earlier in time. Comparisons with modern and ancient populations highlighted ancient, long-lasting genetic links with Eastern Mediterranean and Caucasian/Near-Eastern groups as ancestral sources of Southern Italians. Our results suggest that the Aspromonte communities might be interpreted as genetically drifted remnants that departed from such ancient genetic background as a consequence of long-term isolation. Specific patterns of population structuring and higher levels of genetic drift were indeed observed in these populations, reflecting geographic isolation amplified by cultural differences in the groups that still conserve the Greco language. Isolation and drift also affected the current genetic differentiation at specific gene pathways, prompting for future genome-wide association studies aimed at exploring trait-related loci that have drifted up in frequency in these isolated groups.

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“…It is worth mentioning the clinical record of Angela R., an ancestor of the N family -datable to 1904, before Alois Alzheimer's description of the first case of this disease -which showed a clinical picture consistent with a diagnosis of non-amnestic probable AD, matching the ''dysexecutive'' phenotype described in her descendants. The a posteriori diagnosis of AD was supported by the evidence of the causative genetic mutation PSEN1 Met146Leu as well as neuropathological AD features in her genealogically proven descendants [31].…”

Section: Alzheimer's Diseasementioning

confidence: 94%

Calabria as a Genetic Isolate, a Model for the Study of Neurodegenerative Diseases

Bruno¹,

Laganà²,

Lorenzo³

et al. 2022

Preprint

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Although originally multi-ethnic in its structure, nowadays the Calabria region of southern Italy represents an area with a low genetic heterogeneity and a high level of consanguinity that allows rare mutations to be maintained due to the founder effect. A complex research methodology ranging from clinical activity to genealogical reconstruction of families/populations along the centuries, creation of databases, and molecular/genetic research, has been modelled on the characteristics of the Calabrian population for more than three decades. This methodology allows to the identification of several novel genetic mutations or variants associated with neurodegenerative diseases. In addition, in this population it has been reported a higher prevalence of several hereditary neurodegenerative diseases such as Alzheimer’s disease, Frontotemporal dementia, Parkinson’s disease, Niemann Pick type C disease, Spino-cerebellar ataxia, Creutzfeldt–Jakob disease and Gerstmann Straussler Scheincker disease. Thus, Calabria constitutes a model for the study of neurodegenerative diseases, a sort of "outdoor laboratory" useful for the advancement of knowledge in this field. Here, we summarize and discuss some results of research data supporting the view that Calabria is a genetic isolate and could represent a useful model for the study and characterization of neurodegenerative diseases.

show abstract

Angela R.: a familial Alzheimer’s disease case in the days of Auguste D.

Cited by 6 publications

References 7 publications

Calabria as a Genetic Isolate: A Model for the Study of Neurodegenerative Diseases

Calabria as a Genetic Isolate: A Model for the Study of Neurodegenerative Diseases

Genetic history of Calabrian Greeks reveals ancient events and long term isolation in the Aspromonte area of Southern Italy

Calabria as a Genetic Isolate, a Model for the Study of Neurodegenerative Diseases

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