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Article ; Online: Genetic-environmental factors finally assessed together in Parkinson's disease.

Clarimón, Jordi

Journal of neurology, neurosurgery, and psychiatry

2020 Volume 91, Issue 10, Page(s) 1030

MeSH term(s)	Biological Specimen Banks ; Gene-Environment Interaction ; Genetic Predisposition to Disease ; Humans ; Parkinson Disease/genetics ; United Kingdom
Language	English
Publishing date	2020-09-15
Publishing country	England
Document type	Editorial ; Comment
ZDB-ID	3087-9
ISSN	1468-330X ; 0022-3050
ISSN (online)	1468-330X
ISSN	0022-3050
DOI	10.1136/jnnp-2020-324472
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Article: Parkinson's disease: from genetics to clinical practice.

Clarimón, Jordi / Kulisevsky, Jaime

Current genomics

2013 Volume 14, Issue 8, Page(s) 560–567

Abstract: Breakthroughs in genetics over the last decade have radically advanced our understanding of the etiological basis of Parkinson's disease (PD). Although much research remains to be done, the main genetic causes of this neurodegenerative disorder are now ... ...

Abstract	Breakthroughs in genetics over the last decade have radically advanced our understanding of the etiological basis of Parkinson's disease (PD). Although much research remains to be done, the main genetic causes of this neurodegenerative disorder are now partially unraveled, allowing us to feel more confident that our knowledge about the genetic architecture of PD will continue to increase exponentially. How and when these discoveries will be introduced into general clinical practice, however, remains uncertain. In this review, we provide a general summary of the progress in the genetics of PD and discuss how this knowledge will contribute to the diagnosis and clinical management of patients with, or at risk of this disorder.
Language	English
Publishing date	2013-08-14
Publishing country	United Arab Emirates
Document type	Journal Article
ZDB-ID	2033677-9
ISSN	1875-5488 ; 1389-2029
ISSN (online)	1875-5488
ISSN	1389-2029
DOI	10.2174/1389202914666131210212305
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Article ; Online: Assessing circular RNAs in Alzheimer's disease and frontotemporal lobar degeneration.

Cervera-Carles, Laura / Dols-Icardo, Oriol / Molina-Porcel, Laura / Alcolea, Daniel / Cervantes-Gonzalez, Alba / Muñoz-Llahuna, Laia / Clarimon, Jordi

Neurobiology of aging

2020 Volume 92, Page(s) 7–11

Abstract: A circular-transcriptome-wide study has recently linked differential expression of circular RNAs (circRNAs) in brain tissue with Alzheimer's disease (AD). We aimed at replicating the major findings in an independent series of sporadic and familial AD. We ...

Abstract	A circular-transcriptome-wide study has recently linked differential expression of circular RNAs (circRNAs) in brain tissue with Alzheimer's disease (AD). We aimed at replicating the major findings in an independent series of sporadic and familial AD. We also included cases with frontotemporal lobar degeneration (FTLD), comprising brain specimens with TDP-43 aggregates (FTLD-TDP43) and samples that presented Tau accumulation (FTLD-Tau). Using a quantitative polymerase chain reaction approach, we evaluated 8 circRNAs that surpassed the significant threshold in the former meta-analysis (circHOMER1, circDOCK1, circFMN1, circKCNN2, circRTN4, circMAN2A1, circMAP7, and circPICALM). Average expression changes between patients with AD and controls followed the same directions as previously reported. We also confirmed an exacerbated alteration in circRNA expression in the familial AD group compared with the sporadic forms. Two circRNAs (circHOMER1 and circKCNN2) also showed significant expression alterations in the group of FTLD-Tau and FTLD-TDP43, respectively. Overall, these results reinforce the conception that expression of circRNAs is different in AD, and also suggest a wider involvement of this particular class of RNA in other neurodegenerative dementias.
MeSH term(s)	Adult ; Aged ; Aged, 80 and over ; Alzheimer Disease/genetics ; Female ; Frontal Lobe/metabolism ; Frontotemporal Lobar Degeneration/genetics ; Gene Expression ; Humans ; Male ; Middle Aged ; Polymerase Chain Reaction ; RNA, Circular/genetics ; RNA, Circular/metabolism
Chemical Substances	RNA, Circular
Language	English
Publishing date	2020-04-01
Publishing country	United States
Document type	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.2020.03.017
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Article ; Online: Genetic architecture of neurodegenerative dementias.

Clarimon, Jordi / Moreno-Grau, Sonia / Cervera-Carles, Laura / Dols-Icardo, Oriol / Sánchez-Juan, Pascual / Ruiz, Agustín

Neuropharmacology

2020 Volume 168, Page(s) 108014

Abstract: Molecular genetics has been an invaluable tool to help understand the molecular basis of neurodegenerative dementias. In this review, we provide an overview of the genetic architecture underlying some of the most prevalent causes of dementia, including ... ...

Abstract	Molecular genetics has been an invaluable tool to help understand the molecular basis of neurodegenerative dementias. In this review, we provide an overview of the genetic architecture underlying some of the most prevalent causes of dementia, including Alzheimer's dementia, frontotemporal lobar degeneration, Lewy body dementia, and prion diseases. We also discuss the complexity of the human genome and how the novel technologies have revolutionized and accelerated the way we screen the variety of our DNA. Finally, we also provide some examples about how this genetic knowledge is being transferred into the clinic through personalized medicine. This article is part of the special issue entitled 'The Quest for Disease-Modifying Therapies for Neurodegenerative Disorders'.
MeSH term(s)	Alzheimer Disease/diagnosis ; Alzheimer Disease/genetics ; Animals ; Dementia/diagnosis ; Dementia/genetics ; Frontotemporal Lobar Degeneration/diagnosis ; Frontotemporal Lobar Degeneration/genetics ; Genetic Testing/methods ; Genetic Testing/trends ; Humans ; Lewy Body Disease/diagnosis ; Lewy Body Disease/genetics ; Neurodegenerative Diseases/diagnosis ; Neurodegenerative Diseases/genetics ; Pharmacogenetics/methods ; Pharmacogenetics/trends ; Prion Diseases/diagnosis ; Prion Diseases/genetics
Language	English
Publishing date	2020-02-17
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	218272-5
ISSN	1873-7064 ; 0028-3908
ISSN (online)	1873-7064
ISSN	0028-3908
DOI	10.1016/j.neuropharm.2020.108014
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Article ; Online: Genética en la enfermedad de Alzheimer.

Setó-Salvia, Núria / Clarimón, Jordi

Revista de neurologia

2010 Volume 50, Issue 6, Page(s) 360–364

Abstract: INTRODUCTION AND DEVELOPMENT. Alzheimer's disease (AD), the leading cause of dementia, is a complex disorder in which genetic and environmental factors interact. Three genes -the amyloid precursor protein (APP) and the presenilin 1 and 2 (PSEN1 and PSEN2) ...

Title translation	Genetics of Alzheimer's disease.
Abstract	INTRODUCTION AND DEVELOPMENT. Alzheimer's disease (AD), the leading cause of dementia, is a complex disorder in which genetic and environmental factors interact. Three genes -the amyloid precursor protein (APP) and the presenilin 1 and 2 (PSEN1 and PSEN2)- have been linked to autosomal dominant forms of AD. Besides, a fourth gene -the apolipoprotein E gene (APOE)- seems to be the only major genetic factor related to late-onset sporadic and familial AD cases. Although more than a thousand studies have been performed to date, little is known about other genetic factors leading to this devastating dementia. Nevertheless, the last three years have witnessed a surge in genetic research of AD due to the implementation of novel technologies enabling large-scale genetic analyses. CONCLUSION. This review provides a summary of current knowledge about AD in the genetic field.
MeSH term(s)	Alzheimer Disease/genetics ; Humans
Language	Spanish
Publishing date	2010-03-16
Publishing country	Spain
Document type	English Abstract ; Journal Article
ZDB-ID	1468278-3
ISSN	1576-6578 ; 0210-0010
ISSN (online)	1576-6578
ISSN	0210-0010
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Article: Correction: Plasma glial fibrillary acidic protein and neurofilament light chain for the diagnostic and prognostic evaluation of frontotemporal dementia.

Translational neurodegeneration

2023 Volume 12, Issue 1, Page(s) 21

Language	English
Publishing date	2023-05-09
Publishing country	England
Document type	Published Erratum
ZDB-ID	2653701-1
ISSN	2047-9158
ISSN	2047-9158
DOI	10.1186/s40035-023-00351-3
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Article ; Online: Brain hypometabolism in non-demented microtubule-associated protein tau H1 carriers with Parkinson's disease.

Gasca-Salas, Carmen / Trompeta, Clara / López-Aguirre, Miguel / Rodríguez Rojas, Rafael / Clarimon, Jordi / Dols-Icardo, Oriol / El Bounasri, Shaimaa / Guida, Pasqualina / Mata-Marín, David / Hernández-Fernández, Frida / Marras, Connie / García-Cañamaque, Lina / Plaza de Las Heras, Isabel / Obeso, Ignacio / Vela, Lydia / Fernández-Rodríguez, Beatriz

Journal of neuroimaging : official journal of the American Society of Neuroimaging

2023 Volume 33, Issue 6, Page(s) 953–959

Abstract: Background and purpose: The microtubule-associated protein tau (MAPT) H1 homozygosity (H1/H1 haplotype) is a genetic risk factor for neurodegenerative diseases, such as Parkinson's disease (PD). MAPT H1 homozygosity has been associated with conversion ... ...

Abstract	Background and purpose: The microtubule-associated protein tau (MAPT) H1 homozygosity (H1/H1 haplotype) is a genetic risk factor for neurodegenerative diseases, such as Parkinson's disease (PD). MAPT H1 homozygosity has been associated with conversion to PD; however, results are conflicting since some studies did not find a strong influence. Cortical hypometabolism is associated with cognitive impairment in PD. In this study, we aimed to evaluate the metabolic pattern in nondemented PD patients MAPT H1/H1 carriers in comparison with MAPT H1/H2 haplotype. In addition, we evaluated domain-specific cognitive differences according to MAPT haplotype. Methods: We compared a group of 26 H1/H1 and 20 H1/H2 carriers with late-onset PD. Participants underwent a comprehensive neuropsychological cognitive evaluation and a [18F]-Fluorodeoxyglucose PET-MR scan. Results: MAPT H1/H1 carriers showed worse performance in the digit span forward test of attention compared to MAPT H1/H2 carriers. In the [18F]-Fluorodeoxyglucose PET comparisons, MAPT H1/H1 displayed hypometabolism in the frontal cortex, parahippocampal, and cingulate gyrus, as well as in the caudate and globus pallidus. Conclusion: PD patients MAPT H1/H1 carriers without dementia exhibit relative hypometabolism in several cortical areas as well as in the basal ganglia, and worse performance in attention than MAPT H1/H2 carriers. Longitudinal studies should assess if lower scores in attention and dysfunction in these areas are predictors of dementia in MAPT H1/H1 homozygotes.
MeSH term(s)	Humans ; Parkinson Disease/diagnostic imaging ; Parkinson Disease/genetics ; Parkinson Disease/metabolism ; Genetic Predisposition to Disease ; Brain/diagnostic imaging ; Brain/metabolism ; Haplotypes ; Dementia/genetics ; Dementia/metabolism
Language	English
Publishing date	2023-09-19
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1071724-9
ISSN	1552-6569 ; 1051-2284
ISSN (online)	1552-6569
ISSN	1051-2284
DOI	10.1111/jon.13156
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Article ; Online: Heterozygous APOE Christchurch in familial Alzheimer's disease without mutations in other Mendelian genes.

Hernandez, Isabel / Gelpi, Ellen / Molina-Porcel, Laura / Bernal, Sara / Rodríguez-Santiago, Benjamín / Dols-Icardo, Oriol / Ruiz, Agustín / Alcolea, Daniel / Boada, Mercè / Lleó, Alberto / Clarimón, Jordi

Neuropathology and applied neurobiology

2020 Volume 47, Issue 4, Page(s) 579–582

Abstract: We present the clinical and neuropathological findings of a patient with early onset Alzheimer's dementia (AD), heterozygous carrier of the rare Apolipoprotein E Christchurch (APOEch) variant. The patient did not harbor any pathogenic mutation in known ... ...

Abstract	We present the clinical and neuropathological findings of a patient with early onset Alzheimer's dementia (AD), heterozygous carrier of the rare Apolipoprotein E Christchurch (APOEch) variant. The patient did not harbor any pathogenic mutation in known Mendelian genes related to AD or other neurodegenerative disorders. A sibling of this patient, also carrying the APOEch variant, developed AD at the age of 66 years old. Our data suggest a possible deleterious effect of this variant, which contrast with the protective role that has been previously shown in a subject homozygous for the APOEch with he Paisa PSEN1 mutation.
MeSH term(s)	Aged ; Alzheimer Disease/genetics ; Alzheimer Disease/pathology ; Apolipoproteins E/genetics ; Brain/pathology ; Heterozygote ; Humans ; Male ; Mutation ; Pedigree
Chemical Substances	ApoE protein, human ; Apolipoproteins E
Language	English
Publishing date	2020-11-05
Publishing country	England
Document type	Letter ; Research Support, Non-U.S. Gov't
ZDB-ID	80371-6
ISSN	1365-2990 ; 0305-1846
ISSN (online)	1365-2990
ISSN	0305-1846
DOI	10.1111/nan.12670
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Article ; Online: Downregulation of miR-335-5P in Amyotrophic Lateral Sclerosis Can Contribute to Neuronal Mitochondrial Dysfunction and Apoptosis.

De Luna, Noemi / Turon-Sans, Joana / Cortes-Vicente, Elena / Carrasco-Rozas, Ana / Illán-Gala, Ignacio / Dols-Icardo, Oriol / Clarimón, Jordi / Lleó, Alberto / Gallardo, Eduard / Illa, Isabel / Rojas-García, Ricardo

Scientific reports

2020 Volume 10, Issue 1, Page(s) 4308

Abstract: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease for which the pathophysiological mechanisms of motor neuron loss are not precisely clarified. Environmental and epigenetic mechanisms such as microRNAs (miRNAs) could have a role in ... ...

Abstract	Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease for which the pathophysiological mechanisms of motor neuron loss are not precisely clarified. Environmental and epigenetic mechanisms such as microRNAs (miRNAs) could have a role in disease progression. We studied the expression pattern of miRNAs in ALS serum from 60 patients and 29 healthy controls. We also analyzed how deregulated miRNAs found in serum affected cellular pathways such as apoptosis, autophagy and mitochondrial physiology in SH-SY5Y cells. We found that miR-335-5p was downregulated in ALS serum. SH-SY5Y cells were transfected with a specific inhibitor of miR-335-5p and showed abnormal mitochondrial morphology, with an increment of reactive species of oxygen and superoxide dismutase activity. Pro-apoptotic caspases-3 and 7 also showed an increased activity in transfected cells. The downregulation of miR-335-5p, which has an effect on mitophagy, autophagy and apoptosis in SH-SY5Y neuronal cells could have a role in the motor neuron loss observed in ALS.
MeSH term(s)	Adult ; Aged ; Aged, 80 and over ; Amyotrophic Lateral Sclerosis/complications ; Amyotrophic Lateral Sclerosis/genetics ; Amyotrophic Lateral Sclerosis/pathology ; Apoptosis ; Autophagy ; Biomarkers, Tumor/genetics ; Case-Control Studies ; Disease Progression ; Down-Regulation ; Female ; Follow-Up Studies ; Gene Expression Regulation, Neoplastic ; Humans ; Male ; MicroRNAs/genetics ; Middle Aged ; Mitochondrial Diseases/complications ; Mitochondrial Diseases/genetics ; Mitochondrial Diseases/pathology ; Neurodegenerative Diseases/complications ; Neurodegenerative Diseases/genetics ; Neurodegenerative Diseases/pathology ; Prognosis ; Tumor Cells, Cultured
Chemical Substances	Biomarkers, Tumor ; MIRN335 microRNA, human ; MicroRNAs
Language	English
Publishing date	2020-03-09
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2615211-3
ISSN	2045-2322 ; 2045-2322
ISSN (online)	2045-2322
ISSN	2045-2322
DOI	10.1038/s41598-020-61246-1
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Article ; Online: Neuropathology of a patient with Alzheimer disease treated with low doses of verubecestat.

Querol-Vilaseca, Marta / Sirisi, Sònia / Molina-Porcel, Laura / Molina, Beatriu / Pegueroles, Jordi / Ferrer-Raventós, Paula / Nuñez-Llaves, Raúl / Dols-Icardo, Oriol / Balasa, Mircea / Iulita, Maria Florencia / Blesa, Rafael / Belbin, Olivia / Clarimon, Jordi / Fortea, Juan / Gelpi, Ellen / Sánchez-Valle, Raquel / Lleó, Alberto

Neuropathology and applied neurobiology

2021 Volume 48, Issue 3, Page(s) e12781

Abstract: We report the neuropathological examination of a patient with Alzheimer's disease (AD) treated for 38 months with low doses of the BACE-1 inhibitor verubecestat. Brain examination showed small plaque size, reduced dystrophic neurites around plaques and ... ...

Abstract	We report the neuropathological examination of a patient with Alzheimer's disease (AD) treated for 38 months with low doses of the BACE-1 inhibitor verubecestat. Brain examination showed small plaque size, reduced dystrophic neurites around plaques and reduced synaptic-associated Aβ compared with a group of age-matched untreated sporadic AD (SAD) cases. Our findings suggest that BACE-1 inhibition has an impact on synaptic soluble Aβ accumulation and neuritic derangement in AD.
MeSH term(s)	Alzheimer Disease/drug therapy ; Alzheimer Disease/pathology ; Amyloid beta-Peptides/metabolism ; Brain/pathology ; Cyclic S-Oxides/therapeutic use ; Humans ; Plaque, Amyloid/drug therapy ; Plaque, Amyloid/pathology ; Thiadiazines/therapeutic use
Chemical Substances	Amyloid beta-Peptides ; Cyclic S-Oxides ; Thiadiazines ; verubecestat (J1I0P6WT7T)
Language	English
Publishing date	2021-12-07
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	80371-6
ISSN	1365-2990 ; 0305-1846
ISSN (online)	1365-2990
ISSN	0305-1846
DOI	10.1111/nan.12781
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