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  1. AU="Di Lorenzo, Raffaele"
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  3. AU="Xiang, Jinzhu"
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  5. AU="Aparicio-Yuste, Raul"
  6. AU="Jiang, Gengbo"
  7. AU=Murrell Dedee F AU=Murrell Dedee F
  8. AU=Gupta Riya
  9. AU="Elmasry, Dalia M A" AU="Elmasry, Dalia M A"
  10. AU=Rosa Rafael Fabiano Machado
  11. AU="Bhatia, Vishwas"
  12. AU="Buchwitz, Michael"
  13. AU="Sadrozinski, H-F W."
  14. AU="Allan, Rachel"
  15. AU="Ma, Jiele"
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  17. AU="Pelucchi, Paride"
  18. AU="Krug, Anne Barbara"
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  21. AU="Esquivel-Muelbert, A."
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  28. AU="Yahagi, Naohisa"
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  30. AU="Brennan, Anna"
  31. AU="Lee, Theresa M"
  32. AU="Chunqing Ou"
  33. AU="Gwynn, Simon"
  34. AU="Holper, Sarah"
  35. AU="Haider, Farag Ibrahim"
  36. AU="Rice, Jordin L"
  37. AU="Gong, Xingguo"
  38. AU=Rother Magdalena B.
  39. AU="Petrov, Ksenia"
  40. AU="Rijneveld, R"
  41. AU=Lopez-Martinez Briceida
  42. AU=Astone Pia
  43. AU="Amaral, V"

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

    Bruno, Francesco / Laganà, Valentina / Di Lorenzo, Raffaele / Bruni, Amalia C / Maletta, Raffaele

    Biomedicines

    2022  Band 10, Heft 9

    Abstract: 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 ...

    Abstract 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.
    Sprache Englisch
    Erscheinungsdatum 2022-09-15
    Erscheinungsland Switzerland
    Dokumenttyp Journal Article ; Review
    ZDB-ID 2720867-9
    ISSN 2227-9059
    ISSN 2227-9059
    DOI 10.3390/biomedicines10092288
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  2. Artikel: A Novel Mutation (D395A) in Valosin-Containing Protein Gene Is Associated With Early Onset Frontotemporal Dementia in an Italian Family.

    Bruno, Francesco / Conidi, Maria Elena / Puccio, Gianfranco / Frangipane, Francesca / Laganà, Valentina / Bernardi, Livia / Smirne, Nicoletta / Mirabelli, Maria / Colao, Rosanna / Curcio, Sabrina / Di Lorenzo, Raffaele / Maletta, Raffaele / Bruni, Amalia Cecilia

    Frontiers in genetics

    2021  Band 12, Seite(n) 795029

    Abstract: Inclusion body myopathy (IBM) with Paget's disease of bone (PDB) and/or frontotemporal dementia (FTD) (IBMPFD) was recently identified as rare autosomal dominant disorder due to mutations ... ...

    Abstract Inclusion body myopathy (IBM) with Paget's disease of bone (PDB) and/or frontotemporal dementia (FTD) (IBMPFD) was recently identified as rare autosomal dominant disorder due to mutations in
    Sprache Englisch
    Erscheinungsdatum 2021-11-30
    Erscheinungsland Switzerland
    Dokumenttyp Journal Article
    ZDB-ID 2606823-0
    ISSN 1664-8021
    ISSN 1664-8021
    DOI 10.3389/fgene.2021.795029
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  3. Artikel: Neuropsychiatric or Behavioral and Psychological Symptoms of Dementia (BPSD): Focus on Prevalence and Natural History in Alzheimer's Disease and Frontotemporal Dementia.

    Laganà, Valentina / Bruno, Francesco / Altomari, Natalia / Bruni, Giulia / Smirne, Nicoletta / Curcio, Sabrina / Mirabelli, Maria / Colao, Rosanna / Puccio, Gianfranco / Frangipane, Francesca / Cupidi, Chiara / Torchia, Giusy / Muraca, Gabriella / Malvaso, Antonio / Addesi, Desirèe / Montesanto, Alberto / Di Lorenzo, Raffaele / Bruni, Amalia Cecilia / Maletta, Raffaele

    Frontiers in neurology

    2022  Band 13, Seite(n) 832199

    Abstract: Neuropsychiatric or behavioral and psychological symptoms of dementia (BPSD) represent a heterogeneous group of non-cognitive symptoms that are virtually present in all patients during the course of their disease. The aim of this study is to examine the ... ...

    Abstract Neuropsychiatric or behavioral and psychological symptoms of dementia (BPSD) represent a heterogeneous group of non-cognitive symptoms that are virtually present in all patients during the course of their disease. The aim of this study is to examine the prevalence and natural history of BPSD in a large cohort of patients with behavioral variant of frontotemporal dementia (bvFTD) and Alzheimer's disease (AD) in three stages: (i) pre-T0 (before the onset of the disease); (ii) T0 or manifested disease (from the onset to 5 years); (iii) T1 or advanced (from 5 years onwards). Six hundred seventy-four clinical records of patients with bvFTD and 1925 with AD, from 2006 to 2018, were studied. Symptoms have been extracted from Neuropsychiatric Inventory (NPI) and from a checklist of BPSD for all periods observed. In our population, BPSD affect up to 90% of all dementia subjects over the course of their illness. BPSD profiles of the two dementia groups were similar but not identical. The most represented symptoms were apathy, irritability/affective lability, and agitation/aggression. Considering the order of appearance of neuropsychiatric symptoms in AD and bvFTD, mood disorders (depression, anxiety) come first than the other BPSD, with the same prevalence. This means that they could be an important "red flag" in detection of dementia. With the increase of disease severity, aberrant motor behavior and wandering were significantly more present in both groups. Differences between BPSD in AD and bvFTD resulted only in prevalence: Systematically, in bvFTD, all the symptoms were more represented than in AD, except for hallucinations, depression, anxiety, and irritability. Given their high frequency and impact on management and overall health care resources, BPSD should not be underestimated and considered as an additional important diagnostic and therapeutic target both in patients with AD and bvFTD.
    Sprache Englisch
    Erscheinungsdatum 2022-06-24
    Erscheinungsland Switzerland
    Dokumenttyp Journal Article
    ZDB-ID 2564214-5
    ISSN 1664-2295
    ISSN 1664-2295
    DOI 10.3389/fneur.2022.832199
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  4. Artikel ; Online: A Comparison of Behavioral and Psychological Symptoms of Dementia (BPSD) and BPSD Sub-Syndromes in Early-Onset and Late-Onset Alzheimer's Disease.

    Altomari, Natalia / Bruno, Francesco / Laganà, Valentina / Smirne, Nicoletta / Colao, Rosanna / Curcio, Sabrina / Di Lorenzo, Raffaele / Frangipane, Francesca / Maletta, Raffaele / Puccio, Gianfranco / Bruni, Amalia Cecilia

    Journal of Alzheimer's disease : JAD

    2021  Band 85, Heft 2, Seite(n) 691–699

    Abstract: Background: Behavioral and psychological symptoms of dementia (BPSD) have a large impact on the quality of life of patients with Alzheimer's disease (AD). Few studies have compared BPSD between early-onset (EOAD) and late-onset (LOAD) patients, finding ... ...

    Abstract Background: Behavioral and psychological symptoms of dementia (BPSD) have a large impact on the quality of life of patients with Alzheimer's disease (AD). Few studies have compared BPSD between early-onset (EOAD) and late-onset (LOAD) patients, finding conflicting results.
    Objective: The aims of this study were to: 1) characterize the presence, overall prevalence, and time of occurrence of BPSD in EOAD versus LOAD; 2) estimate the prevalence over time and severity of each BPSD in EOAD versus LOAD in three stages: pre-T0 (before the onset of the disease), T0 (from onset to 5 years), and T1 (from 5 years onwards); 3) track the manifestation of BPSD sub-syndromes (i.e., hyperactivity, psychosis, affective, and apathy) in EOAD versus LOAD at T0 and T1.
    Methods: The sample includes 1,538 LOAD and 387 EOAD diagnosed from 1996 to 2018. Comprehensive assessment batteries, including the Neuropsychiatric Inventory (NPI), were administered at the first medical assessment and at different follow-up period.
    Results: The overall prevalence for the most of BPSD was significantly higher in EOAD compared to LOAD whereas most BPSD appeared significantly later in EOAD patients. Between the two groups, from pre-T0 to T1 we recorded a different pattern of BPSD prevalence over time as well as for BPSD sub-syndromes at T0 and T1. Results on severity of BPSD did not show significant differences.
    Conclusion: EOAD and LOAD represent two different forms of a single entity not only from a neuropathological, cognitive, and functional level but also from a psychiatric point of view.
    Mesh-Begriff(e) Affective Symptoms/psychology ; Age of Onset ; Aged ; Aged, 80 and over ; Alzheimer Disease/psychology ; Apathy ; Behavioral Symptoms/psychology ; Dementia/complications ; Dementia/diagnosis ; Dementia/psychology ; Female ; Humans ; Italy ; Male ; Middle Aged ; Neuropsychological Tests/statistics & numerical data ; Psychiatric Status Rating Scales ; Psychomotor Agitation/psychology ; Psychotic Disorders/psychology ; Severity of Illness Index
    Sprache Englisch
    Erscheinungsdatum 2021-11-29
    Erscheinungsland Netherlands
    Dokumenttyp Comparative Study ; Journal Article
    ZDB-ID 1440127-7
    ISSN 1875-8908 ; 1387-2877
    ISSN (online) 1875-8908
    ISSN 1387-2877
    DOI 10.3233/JAD-215061
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  5. Artikel: The Impact of COVID-19 Quarantine on Patients With Dementia and Family Caregivers: A Nation-Wide Survey.

    Rainero, Innocenzo / Bruni, Amalia C / Marra, Camillo / Cagnin, Annachiara / Bonanni, Laura / Cupidi, Chiara / Laganà, Valentina / Rubino, Elisa / Vacca, Alessandro / Di Lorenzo, Raffaele / Provero, Paolo / Isella, Valeria / Vanacore, Nicola / Agosta, Federica / Appollonio, Ildebrando / Caffarra, Paolo / Bussè, Cinzia / Sambati, Renato / Quaranta, Davide /
    Guglielmi, Valeria / Logroscino, Giancarlo / Filippi, Massimo / Tedeschi, Gioacchino / Ferrarese, Carlo

    Frontiers in aging neuroscience

    2021  Band 12, Seite(n) 625781

    Abstract: Introduction: Previous studies showed that quarantine for pandemic diseases is associated with several psychological and medical effects. The consequences of quarantine for COVID-19 pandemic in patients with dementia are unknown. We investigated the ... ...

    Abstract Introduction: Previous studies showed that quarantine for pandemic diseases is associated with several psychological and medical effects. The consequences of quarantine for COVID-19 pandemic in patients with dementia are unknown. We investigated the clinical changes in patients with Alzheimer's disease and other dementias, and evaluated caregivers' distress during COVID-19 quarantine.
    Methods: The study involved 87 Italian Dementia Centers. Patients with Alzheimer's Disease (AD), Dementia with Lewy Bodies (DLB), Frontotemporal Dementia (FTD), and Vascular Dementia (VD) were eligible for the study. Family caregivers of patients with dementia were interviewed by phone in April 2020, 45 days after quarantine declaration. Main outcomes were patients' changes in cognitive, behavioral, and motor symptoms. Secondary outcomes were effects on caregivers' psychological features.
    Results: 4913 patients (2934 females, 1979 males) fulfilled the inclusion criteria. Caregivers reported a worsening in cognitive functions in 55.1% of patients, mainly in subjects with DLB and AD. Aggravation of behavioral symptoms was observed in 51.9% of patients. In logistic regression analysis, previous physical independence was associated with both cognitive and behavioral worsening (odds ratio 1.85 [95% CI 1.42-2.39], 1.84 [95% CI 1.43-2.38], respectively). On the contrary, pandemic awareness was a protective factor for the worsening of cognitive and behavioral symptoms (odds ratio 0.74 [95% CI 0.65-0.85]; and 0.72 [95% CI 0.63-0.82], respectively). Approximately 25.9% of patients showed the onset of new behavioral symptoms. A worsening in motor function was reported by 36.7% of patients. Finally, caregivers reported a high increase in anxiety, depression, and distress.
    Conclusion: Our study shows that quarantine for COVID-19 is associated with an acute worsening of clinical symptoms in patients with dementia as well as increase of caregivers' burden. Our findings emphasize the importance to implement new strategies to mitigate the effects of quarantine in patients with dementia.
    Sprache Englisch
    Erscheinungsdatum 2021-01-18
    Erscheinungsland Switzerland
    Dokumenttyp Journal Article
    ZDB-ID 2558898-9
    ISSN 1663-4365
    ISSN 1663-4365
    DOI 10.3389/fnagi.2020.625781
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  6. Artikel: Behavioral and Psychological Effects of Coronavirus Disease-19 Quarantine in Patients With Dementia.

    Cagnin, Annachiara / Di Lorenzo, Raffaele / Marra, Camillo / Bonanni, Laura / Cupidi, Chiara / Laganà, Valentina / Rubino, Elisa / Vacca, Alessandro / Provero, Paolo / Isella, Valeria / Vanacore, Nicola / Agosta, Federica / Appollonio, Ildebrando / Caffarra, Paolo / Pettenuzzo, Ilaria / Sambati, Renato / Quaranta, Davide / Guglielmi, Valeria / Logroscino, Giancarlo /
    Filippi, Massimo / Tedeschi, Gioacchino / Ferrarese, Carlo / Rainero, Innocenzo / Bruni, Amalia C

    Frontiers in psychiatry

    2020  Band 11, Seite(n) 578015

    Abstract: Background: In March 2020, the World Health Organization declared a global pandemic due to the novel coronavirus SARS-CoV-2 and several governments planned a national quarantine in order to control the virus spread. Acute psychological effects of ... ...

    Abstract Background: In March 2020, the World Health Organization declared a global pandemic due to the novel coronavirus SARS-CoV-2 and several governments planned a national quarantine in order to control the virus spread. Acute psychological effects of quarantine in frail elderly subjects with special needs, such as patients with dementia, have been poorly investigated. The aim of this study was to assess modifications of neuropsychiatric symptoms during quarantine in patients with dementia and their caregivers.
    Methods: This is a sub-study of a multicenter nation-wide survey. A structured telephone interview was delivered to family caregivers of patients with diagnosis of Alzheimer disease (AD), dementia with Lewy bodies (DLB), frontotemporal dementia (FTD), and vascular dementia (VD), followed regularly at 87 Italian memory clinics. Variations in behavioral and psychological symptoms (BPSD) were collected after 1 month since quarantine declaration and associations with disease type, severity, gender, and caregiver's stress burden were analyzed.
    Results: A total of 4,913 caregivers participated in the survey. Increased BPSD was reported in 59.6% of patients as worsening of preexisting symptoms (51.9%) or as new onset (26%), and requested drug modifications in 27.6% of these cases. Irritability, apathy, agitation, and anxiety were the most frequently reported worsening symptoms and sleep disorder and irritability the most frequent new symptoms. Profile of BPSD varied according to dementia type, disease severity, and patients' gender. Anxiety and depression were associated with a diagnosis of AD (OR 1.35, CI: 1.12-1.62), mild to moderate disease severity and female gender. DLB was significantly associated with a higher risk of worsening hallucinations (OR 5.29, CI 3.66-7.64) and sleep disorder (OR 1.69, CI 1.25-2.29), FTD with wandering (OR 1.62, CI 1.12-2.35), and change of appetite (OR 1.52, CI 1.03-2.25). Stress-related symptoms were experienced by two-thirds of caregivers and were associated with increased patients' neuropsychiatric burden (p<0.0001).
    Conclusion: Quarantine induces a rapid increase of BPSD in approximately 60% of patients and stress-related symptoms in two-thirds of caregivers. Health services need to plan a post-pandemic strategy in order to address these emerging needs.
    Schlagwörter covid19
    Sprache Englisch
    Erscheinungsdatum 2020-09-09
    Erscheinungsland Switzerland
    Dokumenttyp Journal Article
    ZDB-ID 2564218-2
    ISSN 1664-0640
    ISSN 1664-0640
    DOI 10.3389/fpsyt.2020.578015
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  7. Artikel: Behavioral and psychological effects of coronavirus disease-19 quarantine in patients with dementia

    Cagnin, Annachiara / Di Lorenzo, Raffaele / Marra, Camillo / Bonanni, Laura / Cupidi, Chiara / Laganà, Valentina / Rubino, Elisa / Vacca, Alessandro / Provero, Paolo / Isella, Valeria / Vanacore, Nicola / Agosta, Federica / Appollonio, Ildebrando / Caffarra, Paolo / Pettenuzzo, Ilaria / Sambati, Renato / Quaranta, Davide / Guglielmi, Valeria / Logroscino, Giancarlo /
    Filippi, Massimo / Tedeschi, Gioacchino / Ferrarese, Carlo / Rainero, Innocenzo / Bruni, Amalia C.

    Front. Psychiatry

    Abstract: Background: In March 2020, the World Health Organization declared a global pandemic due to the novel coronavirus SARS-CoV-2 and several governments planned a national quarantine in order to control the virus spread. Acute psychological effects of ... ...

    Abstract Background: In March 2020, the World Health Organization declared a global pandemic due to the novel coronavirus SARS-CoV-2 and several governments planned a national quarantine in order to control the virus spread. Acute psychological effects of quarantine in frail elderly subjects with special needs, such as patients with dementia, have been poorly investigated. The aim of this study was to assess modifications of neuropsychiatric symptoms during quarantine in patients with dementia and their caregivers. Methods: This is a sub-study of a multicenter nation-wide survey. A structured telephone interview was delivered to family caregivers of patients with diagnosis of Alzheimer disease (AD), dementia with Lewy bodies (DLB), frontotemporal dementia (FTD), and vascular dementia (VD), followed regularly at 87 Italian memory clinics. Variations in behavioral and psychological symptoms (BPSD) were collected after 1 month since quarantine declaration and associations with disease type, severity, gender, and caregiver’s stress burden were analyzed. Results: A total of 4,913 caregivers participated in the survey. Increased BPSD was reported in 59.6% of patients as worsening of preexisting symptoms (51.9%) or as new onset (26%), and requested drug modifications in 27.6% of these cases. Irritability, apathy, agitation, and anxiety were the most frequently reported worsening symptoms and sleep disorder and irritability the most frequent new symptoms. Profile of BPSD varied according to dementia type, disease severity, and patients’ gender. Anxiety and depression were associated with a diagnosis of AD (OR 1.35, CI: 1.12–1.62), mild to moderate disease severity and female gender. DLB was significantly associated with a higher risk of worsening hallucinations (OR 5.29, CI 3.66–7.64) and sleep disorder (OR 1.69, CI 1.25–2.29), FTD with wandering (OR 1.62, CI 1.12–2.35), and change of appetite (OR 1.52, CI 1.03–2.25). Stress-related symptoms were experienced by two-thirds of caregivers and were associated with increased patients’ neuropsychiatric burden (p<0.0001). Conclusion: Quarantine induces a rapid increase of BPSD in approximately 60% of patients and stress-related symptoms in two-thirds of caregivers. Health services need to plan a post-pandemic strategy in order to address these emerging needs.
    Schlagwörter covid19
    Verlag WHO
    Dokumenttyp Artikel
    Anmerkung WHO #Covidence: #776879
    Datenquelle COVID19

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  8. Artikel ; Online: Acute Clinical Impact of COVID-19 Quarantine on Patients with Alzheimer's Disease and Other Dementias

    Rainero, Innocenzo / Bruni, Amalia C. / Marra, Camillo / Cagnin, Annachiara / Bonanni, Laura / Cupidi, Chiara / Laganà, Valentina / Rubino, Elisa / Vacca, Alessandro / Di Lorenzo, Raffaele / Provero, Paolo / Isella, Valeria / Vanacore, Nicola / Agosta, Federica / Appollonio, Ildebrando / Caffarra, Paolo / Bussè, Cinzia / Sambati, Renato / Quaranta, Davide /
    Guglielmi, Valeria / Logroscino, Giancarlo / Filippi, Massimo / Tedeschi, Gioacchino / Ferrarese, Carlo

    SSRN Electronic Journal ; ISSN 1556-5068

    An Observational Study

    2020  

    Schlagwörter covid19
    Sprache Englisch
    Verlag Elsevier BV
    Erscheinungsland us
    Dokumenttyp Artikel ; Online
    DOI 10.2139/ssrn.3627275
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  9. Artikel ; Online: Frequency of Cardiovascular Genetic Risk Factors in a Calabrian Population and Their Effects on Dementia.

    Maletta, Raffaele / Smirne, Nicoletta / Bernardi, Livia / Anfossi, Maria / Gallo, Maura / Conidi, Maria Elena / Colao, Rosanna / Puccio, Gianfranco / Curcio, Sabrina A M / Laganà, Valentina / Frangipane, Francesca / Cupidi, Chiara / Mirabelli, Maria / Vasso, Franca / Torchia, Giusi / Muraca, Maria G / Di Lorenzo, Raffaele / Rose, Giuseppina / Montesanto, Alberto /
    Passarino, Giuseppe / Bruni, Amalia C

    Journal of Alzheimer's disease : JAD

    2018  Band 61, Heft 3, Seite(n) 1179–1187

    Abstract: Background: Several genetic variants playing a key role in cholesterol levels, blood pressure, and vascular dysfunction influence the risk of Alzheimer's disease (AD) and vascular dementia (VaD). The many meta-analysis studies carried out on large ... ...

    Abstract Background: Several genetic variants playing a key role in cholesterol levels, blood pressure, and vascular dysfunction influence the risk of Alzheimer's disease (AD) and vascular dementia (VaD). The many meta-analysis studies carried out on large numbers of samples in different populations have not provided clear results to date, because a trans-ethnic shift of risk genotypes in different populations is often observed.
    Objectives: To determine genotypes allele frequencies of the polymorphisms most frequently identified to be correlated with cardio-cerebrovascular disease and AD in a Southern Italy population and to investigate their possible association with dementia.
    Methods: The genotype and allele frequencies of 13 cardio-cerebrovascular risk polymorphisms were assessed and their possible association with dementia was investigated in a case-control study, including 221 consecutive unrelated subjects diagnosed with dementia (120 subjects affected by AD, 55 by frontotemporal dementia, and 33 by vascular dementia) and 218 matched controls of Calabrian origin.
    Results: Carriers of at least one APOEɛ4 allele resulted to be at higher risk of AD [OR(95% CI) = 2.721(1.477-5.011)] and VaD [OR(95% CI) = 6.205(2.356-16.342)] compared to non-carriers. Individuals with the IV genotype of the CETP polymorphism were more likely to have AD [OR(95% CI) = 2.427(1.364-4.319)] and VaD [OR(95% CI) = 3.649(1.455-9.152)] compared to subjects with the II-VV genotypes.
    Conclusion: CETP I405V polymorphism is likely a risk factor for AD and VaD in our cohort, independent of APOEɛ4 status. Unmodifiable genetic risk factors should be taken into account to promote a healthy lifestyle to prevent dementia.
    Mesh-Begriff(e) Aged ; Aged, 80 and over ; Alzheimer Disease/genetics ; Apolipoprotein E4/genetics ; Case-Control Studies ; Cholesterol Ester Transfer Proteins/genetics ; Cohort Studies ; Dementia, Vascular/genetics ; Female ; Frontotemporal Dementia/genetics ; Gene Frequency ; Humans ; Italy ; Male ; Middle Aged ; Polymorphism, Genetic ; Risk Factors
    Chemische Substanzen Apolipoprotein E4 ; CETP protein, human ; Cholesterol Ester Transfer Proteins
    Sprache Englisch
    Erscheinungsdatum 2018-01-13
    Erscheinungsland Netherlands
    Dokumenttyp Journal Article
    ZDB-ID 1440127-7
    ISSN 1875-8908 ; 1387-2877
    ISSN (online) 1875-8908
    ISSN 1387-2877
    DOI 10.3233/JAD-170687
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  10. Artikel ; Online: Role of Niemann-Pick Type C Disease Mutations in Dementia.

    Cupidi, Chiara / Frangipane, Francesca / Gallo, Maura / Clodomiro, Alessandra / Colao, Rosanna / Bernardi, Livia / Anfossi, Maria / Conidi, Maria Elena / Vasso, Franca / Curcio, Sabrina Anna Maria / Mirabelli, Maria / Smirne, Nicoletta / Torchia, Giusi / Muraca, Maria Gabriella / Puccio, Gianfranco / Di Lorenzo, Raffaele / Zampieri, Stefania / Romanello, Milena / Dardis, Andrea /
    Maletta, Raffaele Giovanni / Bruni, Amalia Cecilia

    Journal of Alzheimer's disease : JAD

    2017  Band 55, Heft 3, Seite(n) 1249–1259

    Abstract: Background: Several neurological and systemic diseases can cause dementia, beyond Alzheimer's disease. Rare genetic causes are often responsible for dementia with atypical features. Recently, mutations causative for Niemann-Pick type C disease (NPC) ... ...

    Abstract Background: Several neurological and systemic diseases can cause dementia, beyond Alzheimer's disease. Rare genetic causes are often responsible for dementia with atypical features. Recently, mutations causative for Niemann-Pick type C disease (NPC) have also been implicated in neurodegenerative diseases. NPC is an autosomal recessive lipid storage disorder caused by mutations in NPC1 and NPC2 genes. In adults, clinical presentation mimicking other neurodegenerative diseases makes diagnosis difficult. Recent evidence suggests that heterozygous mutations in NPC genes may take on etiological significance.
    Objective: To investigate the presence of NPC1 and NPC2 mutations in adults affected by neurodegenerative dementia plus.
    Methods: We performed a genetic screening on 50 patients using a wide clinical and biochemical approach to characterize the phenotype of mutated patients.
    Results: Sequencing analysis revealed four different and known heterozygous mutations in NPC1 and NPC2 genes. Patient 1 carried the p. F284LfsX26 in NPC1 and was affected by progressive supranuclear palsy-like syndrome. The remaining three patients showed a corticobasal syndrome and harbored the c.441+1G>A variant of NPC2 (patient 2), the missense p.N222 S mutation associated with the c.1947+8G>C variant in the splice region of intron 12 in NPC1 (patient 3), and the p.V30M mutation in NPC2 (patient 4), respectively. Filipin staining was abnormal in patients 1 and 2. mRNA analysis revealed an altered splicing of the NPC2 gene in patient 2.
    Conclusions: Heterozygous mutations of NPC1 and NPC2 genes could contribute to dementia plus, at least in a subset of patients. We highlight the occurrence of NPC1 and NPC2 heterozygous variants in dementia-plus as pathological event.
    Sprache Englisch
    Erscheinungsdatum 2017
    Erscheinungsland Netherlands
    Dokumenttyp Journal Article
    ZDB-ID 1440127-7
    ISSN 1875-8908 ; 1387-2877
    ISSN (online) 1875-8908
    ISSN 1387-2877
    DOI 10.3233/JAD-160214
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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