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  1. AU="García-Fernández, Ciara"
  2. AU="Lee, Mi-Ock"
  3. AU="Pouraliakbar, Hamidreza"
  4. AU="Raina, Hema"
  5. AU="Rosenbaum, David P"
  6. AU="Paulus, Markus"
  7. AU="Nguyen, David Truong"
  8. AU="Khazanchi, Rakesh Kumar"
  9. AU="Agrò, Felice E"
  10. AU="Bücker, Bettina"
  11. AU="Steussy, Bryan W"

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  1. Artikel ; Online: NFKB1 variants were associated with the risk of Parkinson´s disease in male.

    Perez-Oliveira, Sergio / Vazquez-Coto, Daniel / Pardo, Sara / Blázquez-Estrada, Marta / Menéndez-González, Manuel / Siso, Pablo / Suárez, Esther / García-Fernández, Ciara / Fages, Beatriz de la Casa / Coto, Eliecer / Álvarez, Victoria

    Journal of neural transmission (Vienna, Austria : 1996)

    2024  

    Abstract: The NF-κB pathway is involved in the pathogenesis of neurological disorders that have inflammation as a hallmark, including Parkinson's disease (PD). Our objective was to determine whether common functional variants in the NFKB1, NFKBIA and NFKBIZ genes ... ...

    Abstract The NF-κB pathway is involved in the pathogenesis of neurological disorders that have inflammation as a hallmark, including Parkinson's disease (PD). Our objective was to determine whether common functional variants in the NFKB1, NFKBIA and NFKBIZ genes were associated with the risk of PD. A total of 532 Spanish PD cases (61% male; 38% early-onset, ≤ 55 years) and 300 population controls (50% ≤55 years) were genotyped for the NFKB1 rs28362491 and rs7667496, NFKBIA rs696, and NFKBIZ rs1398608 polymorphisms. We compared allele and genotype frequencies between early and late-onset, male and female, and patient's vs. controls. We found that the two NFKB1 alleles were significantly associated with PD in our population (p = 0.01; total patients vs. controls), without difference between Early and Late onset patients. The frequencies of the NFKB1 variants significantly differ between male and female patients. Compared to controls, male patients showed a significantly higher frequency of rs28362491 II (p = 0.02, OR = 1.52, 95%CI = 1.10-2.08) and rs28362491 C (p = 0.003, OR = 1.62, 95%CI = 1.18-2.22). The two NFKB1 variants were in strong linkage disequilibrium and the I-C haplotype was significantly associated with the risk of PD among male (p = 0.002). In conclusion, common variants in the NF-kB genes were associated with the risk of developing PD in our population, with significant differences between male and female. These results encourage further studies to determine the involvement of the NF-kB components in the pathogenesis of Parkinson´s disease.
    Sprache Englisch
    Erscheinungsdatum 2024-02-28
    Erscheinungsland Austria
    Dokumenttyp Journal Article
    ZDB-ID 184163-4
    ISSN 1435-1463 ; 0300-9564
    ISSN (online) 1435-1463
    ISSN 0300-9564
    DOI 10.1007/s00702-024-02759-1
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  2. Artikel ; Online: Parkinsonism-hyperpyrexia, a rare consequence of deep brain stimulator malfunction in advanced Parkinson's disease.

    Díaz Castela, Manuel / Prendes Fernández, Patricia / Heres Bruck, Sonia / Suárez San Martín, Esther / García Fernández, Ciara / Sol Álvarez, Javier / Lozano Aragoneses, Beatriz / Sáiz Ayala, Antonio / Santamarta Liébana, Elena / Álvarez Carriles, Juan / González Álvarez, Lorena / Blázquez Estrada, Marta

    Clinical parkinsonism & related disorders

    2024  Band 10, Seite(n) 100246

    Abstract: Parkinsonism-hyperpyrexia syndrome (PHS) is a rare neurological emergency that shares clinical features with neuroleptic malignant syndrome. It is usually due to sudden deprivation of dopaminergic treatment, although there are cases related to failure of ...

    Abstract Parkinsonism-hyperpyrexia syndrome (PHS) is a rare neurological emergency that shares clinical features with neuroleptic malignant syndrome. It is usually due to sudden deprivation of dopaminergic treatment, although there are cases related to failure of the deep brain stimulation system.
    Sprache Englisch
    Erscheinungsdatum 2024-02-28
    Erscheinungsland England
    Dokumenttyp Journal Article
    ISSN 2590-1125
    ISSN (online) 2590-1125
    DOI 10.1016/j.prdoa.2024.100246
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  3. Artikel ; Online: Smoking is associated with age at disease onset in Parkinson's disease.

    Rosas, Irene / Morís, Germán / Coto, Eliecer / Blázquez-Estrada, Marta / Suárez, Esther / García-Fernández, Ciara / Martínez, Carmen / Herrera, Israel Duarte / Pérez-Oliveira, Sergio / Álvarez, Victoria / Menéndez-González, Manuel

    Parkinsonism & related disorders

    2022  Band 97, Seite(n) 79–83

    Abstract: Background: Previous studies linked disease-progression variables such as age at onset or survival to both genetic, and non-genetic factors in Parkinson's disease (PD) patients.: Objective: The aim of this study was to assess how genetic and non ... ...

    Abstract Background: Previous studies linked disease-progression variables such as age at onset or survival to both genetic, and non-genetic factors in Parkinson's disease (PD) patients.
    Objective: The aim of this study was to assess how genetic and non genetic factors act as modifiers of age at onset and survival and in a cohort of 753 PD patients, and to determine how these variables interact to define the overall risk.
    Methods: We analyzed the effect of gender, tobacco, alcohol, type of PD (genetic, gPD or idiopathic, iPD) and three genetic variants rs5848- GRN, rs1042522- TP53 and APOE. We studied two cohorts (PPMI and IPDGC) to replicate positive results.
    Results: Regarding age at onset, male smokers PD had a significantly lower mean age compared to non-smoker (p = 0.001). APOE-Ɛ4 carriers had a younger onset-age compared to non-carriers (p = 0.03) in the Spanish cohort, but these results were not replicated in the other cohorts. Concerning survival, PD patients with an early onset (below 50 years) had an increased survival rate (p < 0.001).
    Conclusions: Our study showed how several genetic and non-genetic risk factors influenced the age at onset and survival in PD.
    Mesh-Begriff(e) Age of Onset ; Apolipoproteins E/genetics ; Cohort Studies ; Heterozygote ; Humans ; Male ; Parkinson Disease/complications ; Parkinson Disease/epidemiology ; Parkinson Disease/genetics ; Smoking/adverse effects ; Smoking/epidemiology
    Chemische Substanzen Apolipoproteins E
    Sprache Englisch
    Erscheinungsdatum 2022-03-24
    Erscheinungsland England
    Dokumenttyp Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1311489-x
    ISSN 1873-5126 ; 1353-8020
    ISSN (online) 1873-5126
    ISSN 1353-8020
    DOI 10.1016/j.parkreldis.2022.03.005
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  4. Artikel ; Online: A series of cases with Huntington-like phenotype and intermediate repeats in HTT.

    Reguera Acuña, Antía / Suárez San Martín, Esther / García Fernández, Ciara / Fernández Menéndez, Santiago / Blázquez Estrada, Marta / Amorín Díaz, Manuel / Menéndez González, Manuel / Álvarez Martínez, Victoria

    Journal of the neurological sciences

    2021  Band 425, Seite(n) 117452

    Abstract: Background: Intermediate Alleles (IAs) are expansions of CAG repeats in the HTT gene between 27 and 35 repeats which pathogenic meaning remains controversial. They are present in the general population but there is an increasing number of cases with ... ...

    Abstract Background: Intermediate Alleles (IAs) are expansions of CAG repeats in the HTT gene between 27 and 35 repeats which pathogenic meaning remains controversial. They are present in the general population but there is an increasing number of cases with Huntington-like phenotype reported.
    Methods: We reviewed the medical records of cases in our centre where the neurologist suspected Huntington's disease (HD) as one of the feasible diagnoses and genetic testing showed the number of CAG repeats was in the "intermediate range". We gathered the type of symptoms in all cases and the main neuroimaging findings when available.
    Results: We found 14 cases, 8 males and 6 females, with average age at onset at 64 years old. Most cases exhibited some type of extrapyramidal symptoms. Cognitive and/or behavioral symptoms were also present in most cases (being depression, anxiety and cognitive impairment the most frequent ones). In one case we found deposits of iron in the basal ganglia in the MRI, and in another case we found diffuse cortical hypometabolism with predominantly frontal bilateral involvement and bilateral focal deficit of both caudate and thalamus in the FDG-PET.
    Conclusion: The clinical and neuroimaging findings of some cases with IA in this series are compatible with the clinical picture of HD but also with several other alternative diagnoses. Therefore we can not establish association between IA and HD. Larger series with more comprehensive diagnostic workout and neuropathological studies are needed to confirm or rule out whether IAs in the HTT gene may cause HD.
    Mesh-Begriff(e) Alleles ; Female ; Genetic Testing ; Humans ; Huntingtin Protein/genetics ; Huntington Disease/diagnostic imaging ; Huntington Disease/genetics ; Male ; Middle Aged ; Phenotype ; Trinucleotide Repeats
    Chemische Substanzen HTT protein, human ; Huntingtin Protein
    Sprache Englisch
    Erscheinungsdatum 2021-04-16
    Erscheinungsland Netherlands
    Dokumenttyp Journal Article
    ZDB-ID 80160-4
    ISSN 1878-5883 ; 0022-510X ; 0374-8642
    ISSN (online) 1878-5883
    ISSN 0022-510X ; 0374-8642
    DOI 10.1016/j.jns.2021.117452
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  5. Artikel ; Online: Cancer in Parkinson's Disease: An Approximation to the Main Risk Factors.

    Rosas, Irene / Morís, Germán / Coto, Eliecer / Blázquez, Marta / Suárez, Esther / García-Fernández, Ciara / Siso, Pablo / Martínez, Carmen / Pérez-Oliveira, Sergio / Álvarez, Victoria / Menéndez-González, Manuel

    Neuro-degenerative diseases

    2021  Band 21, Heft 1-2, Seite(n) 36–41

    Abstract: Background: Many evidences suggest a pathological link between neurodegenerative diseases and cancer. In fact, several epidemiologic studies indicate a decreased incidence of most cancer types in Parkinson's disease (PD) patients and some PD genes are ... ...

    Abstract Background: Many evidences suggest a pathological link between neurodegenerative diseases and cancer. In fact, several epidemiologic studies indicate a decreased incidence of most cancer types in Parkinson's disease (PD) patients and some PD genes are involved in cancer networks.
    Objective: The aim of this study is to assess the influence of several factors in the risk of cancer in a cohort of 753 PD patients and to study how these variables interact with each other.
    Methods: We analyzed the effect of gender, tobacco, alcohol, type of PD (genetic or idiopathic PD), and two genetic variants, previously associated with cancer, rs5848-GRN and rs1042522-TP53.
    Results: A higher age at PD onset was observed in patients who develop cancer before PD (p < 0.001). Alcohol consumption was a risk factor to develop cancer in PD patients (p = 0.011), while smoking was not a cancer risk factor in our cohort (p = 0.098). Among the genetic factors, the genotype TT GRN-rs5848 was statistically more frequent in PD patients without cancer (p = 0.05).
    Conclusions: Our study identified several factors, genetic and nongenetic, which contribute to the risk for cancer in PD.
    Mesh-Begriff(e) Cohort Studies ; Genetic Predisposition to Disease ; Genotype ; Humans ; Neoplasms ; Parkinson Disease/epidemiology ; Parkinson Disease/genetics ; Risk Factors
    Sprache Englisch
    Erscheinungsdatum 2021-10-21
    Erscheinungsland Switzerland
    Dokumenttyp Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2143569-8
    ISSN 1660-2862 ; 1660-2854
    ISSN (online) 1660-2862
    ISSN 1660-2854
    DOI 10.1159/000520301
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  6. Artikel ; Online: HTT gene intermediate alleles in neurodegeneration: evidence for association with Alzheimer's disease.

    Menéndez-González, Manuel / Clarimón, Jordi / Rosas-Allende, Irene / Blázquez, Marta / San Martín, Esther Suárez / García-Fernández, Ciara / Lleó, Alberto / Dols-Icardo, Oriol / Illán-Gala, Ignacio / Morís, Germán / Ribacoba, Renée / Álvarez, Victoria / Martínez, Carmen

    Neurobiology of aging

    2018  Band 76, Seite(n) 215.e9–215.e14

    Abstract: Huntington's disease (HD) is an autosomal progressive neurodegenerative disorder caused by the expansion of CAG repeats in the HTT gene. Intermediate alleles (IAs) are in the range of 27-35 repeats and have been associated to a normal phenotype. The aim ... ...

    Abstract Huntington's disease (HD) is an autosomal progressive neurodegenerative disorder caused by the expansion of CAG repeats in the HTT gene. Intermediate alleles (IAs) are in the range of 27-35 repeats and have been associated to a normal phenotype. The aim of this work was to analyze the association between intermediate huntingtin CAG-repeat alleles (IAs) and neurodegenerative diseases, other than HD. We screened the HTT CAG repeats in patients with Alzheimer's disease (AD) (n = 1126), Parkinson's disease (PD) (n = 610), and frontotemporal lobar degeneration (FTLD) (n = 225). We also studied 509 healthy controls (HCs). The relative frequency of IAs for each group was 6.03% in AD, 5.3% in FTLD, 3.5% in PD, and 2.9% in HCs. The frequency of IA was significantly higher among patients with AD when compared to HCs (p = 0.011, OR = 2.11, 95% CI = 1.19-3.74); no significant difference was observed in FTLD (p = 0.17; OR = 1.88, 95% CI = 0.85-4.03) and PD (p = 0.69; OR = 1.21; 95% CI (0.61-2.37) versus HCs. No atypical symptoms or clinical features distinctive of HD were found among carriers of IAs. We found 3 cases with CAG expansions within the pathological range, one diagnosed with AD, one with PD, and one with FTD. Results suggest that IAs might have a role in the pathogenesis of AD. In addition, HD patients might be misdiagnosed with other neurodegenerative diseases, particularly when CAG repeats are in the lower pathological range.
    Mesh-Begriff(e) Aged ; Aged, 80 and over ; Alleles ; Alzheimer Disease/diagnosis ; Alzheimer Disease/genetics ; Diagnosis, Differential ; Female ; Genetic Association Studies ; Humans ; Huntingtin Protein/genetics ; Huntington Disease/diagnosis ; Huntington Disease/genetics ; Male ; Middle Aged ; Nerve Degeneration/diagnosis ; Nerve Degeneration/genetics ; Trinucleotide Repeat Expansion
    Chemische Substanzen HTT protein, human ; Huntingtin Protein
    Sprache Englisch
    Erscheinungsdatum 2018-11-28
    Erscheinungsland United States
    Dokumenttyp Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 604505-4
    ISSN 1558-1497 ; 0197-4580
    ISSN (online) 1558-1497
    ISSN 0197-4580
    DOI 10.1016/j.neurobiolaging.2018.11.014
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  7. Artikel ; Online: Influence of premorbid psychopathology and lesion location on affective and behavioral disorders after ischemic stroke.

    Castellanos-Pinedo, Fernando / Hernández-Pérez, José María / Zurdo, Martín / Rodríguez-Fúnez, Beatriz / Hernández-Bayo, José María / García-Fernández, Ciara / Cueli-Rincón, Bernardo / Castro-Posada, Juan Antonio

    The Journal of neuropsychiatry and clinical neurosciences

    2011  Band 23, Heft 3, Seite(n) 340–347

    Abstract: Early recognition of psychopathological symptoms (PSs) after stroke is important because they greatly influence the recovery of patients. The aim of this study was to investigate the predictive factors of PSs occurring in patients with ischemic stroke. ... ...

    Abstract Early recognition of psychopathological symptoms (PSs) after stroke is important because they greatly influence the recovery of patients. The aim of this study was to investigate the predictive factors of PSs occurring in patients with ischemic stroke. Eighty-nine patients were prospectively evaluated upon admission and 4, 12, and 26 weeks later with the Neuropsychiatric Inventory, Hamilton's Rating Scales for Depression and Anxiety, and a battery of neuropsychological and functional scales. Depression and apathy were the most frequent PSs detected after stroke. Premorbid psychopathologies and right-hemisphere location were the main predictive indicators of early and long-term PSs.
    Mesh-Begriff(e) Adult ; Aged ; Aged, 80 and over ; Behavioral Symptoms/etiology ; Behavioral Symptoms/pathology ; Female ; Humans ; Linear Models ; Male ; Mental Disorders/etiology ; Middle Aged ; Predictive Value of Tests ; Prospective Studies ; Psychiatric Status Rating Scales ; Statistics as Topic ; Stroke/complications ; Time Factors
    Sprache Englisch
    Erscheinungsdatum 2011
    Erscheinungsland United States
    Dokumenttyp Journal Article
    ZDB-ID 1036340-3
    ISSN 1545-7222 ; 0895-0172
    ISSN (online) 1545-7222
    ISSN 0895-0172
    DOI 10.1176/appi.neuropsych.23.3.340
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