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Article ; Online: Comment: double mutants of frontotemporal dementia genes--Simple co-occurrence?

Pastor, Pau

2013 Volume 81, Issue 15, Page(s) 1338

MeSH term(s)	C9orf72 Protein ; DNA Repeat Expansion/genetics ; Female ; Genetic Predisposition to Disease/genetics ; Humans ; Male ; Neurodegenerative Diseases/genetics ; Proteins/genetics
Chemical Substances	C9orf72 Protein ; C9orf72 protein, human ; Proteins
Language	English
Publishing date	2013-10-08
Publishing country	United States
Document type	Journal Article ; Comment
ZDB-ID	207147-2
ISSN	1526-632X ; 0028-3878
ISSN (online)	1526-632X
ISSN	0028-3878
DOI	10.1212/WNL.0b013e3182a825a1
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Article ; Online: Genetic heterogeneity in Parkinson disease: the meaning of GWAS and replication studies.

Pastor, Pau

Neurology

2012 Volume 79, Issue 7, Page(s) 619–620

MeSH term(s)	Female ; Genetic Loci ; Genetic Predisposition to Disease ; Genotype ; Humans ; Male ; Parkinson Disease/genetics
Language	English
Publishing date	2012-08-14
Publishing country	United States
Document type	Comment ; Editorial
ZDB-ID	207147-2
ISSN	1526-632X ; 0028-3878
ISSN (online)	1526-632X
ISSN	0028-3878
DOI	10.1212/WNL.0b013e318264e3d2
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Article ; Online: Automatic Segmentation and Quantification of Nigrosome-1 Neuromelanin and Iron in MRI: A Candidate Biomarker for Parkinson's Disease.

Ariz, Mikel / Martínez, Martín / Alvarez, Ignacio / Fernández-Seara, Maria A / Castellanos, Gabriel / Pastor, Pau / Pastor, Maria A / Ortiz de Solórzano, Carlos

Journal of magnetic resonance imaging : JMRI

2023

Abstract: Background: There is a lack of automated tools for the segmentation and quantification of neuromelanin (NM) and iron in the nigrosome-1 (N1). Existing tools evaluate the N1 sign, i.e., the presence or absence of the "swallow-tail" in iron-sensitive MRI, ...

Abstract	Background: There is a lack of automated tools for the segmentation and quantification of neuromelanin (NM) and iron in the nigrosome-1 (N1). Existing tools evaluate the N1 sign, i.e., the presence or absence of the "swallow-tail" in iron-sensitive MRI, or globally analyze the MRI signal in an area containing the N1, without providing a volumetric delineation. Purpose: Present an automated method to segment the N1 and quantify differences in N1's NM and iron content between Parkinson's disease (PD) patients and healthy controls (HCs). Study whether N1 degeneration is clinically related to PD and could be used as a biomarker of the disease. Study type: Prospective. Subjects: Seventy-one PD (65.3 ± 10.3 years old, 34 female/37 male); 30 HC (62.7 ± 7.8 years old, 17 female/13 male). Field strength/sequence: 3 T Anatomical T1-weighted MPRAGE, NM-MRI T1-weighted gradient with magnetization transfer, susceptibility-weighted imaging (SWI). Assessment: N1 was automatically segmented in SWI images using a multi-image atlas, populated with healthy N1 structures manually annotated by a neurologist. Relative NM and iron content were quantified and their diagnostic performance assessed and compared with the substantia nigra pars compacta (SNc). The association between image parameters and clinically relevant variables was studied. Statistical tests: Nonparametric tests were used (Mann-Whitney's U, chi-square, and Friedman tests) at P = 0.05. Results: N1's relative NM content decreased and relative iron content increased in PD patients compared with HCs (NM-CR Data conclusion: This method provides a fully automatic N1 segmentation, and the analyses performed reveal that N1 relative NM and iron quantification improves diagnostic performance and suggest a relative NM reduction along with a relative iron accumulation in N1 as the disease progresses. Evidence level: 1 TECHNICAL EFFICACY: Stage 1.
Language	English
Publishing date	2023-11-02
Publishing country	United States
Document type	Journal Article
ZDB-ID	1146614-5
ISSN	1522-2586 ; 1053-1807
ISSN (online)	1522-2586
ISSN	1053-1807
DOI	10.1002/jmri.29073
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Article ; Online: Familial neurodegeneration in progressive supranuclear palsy: more frequent than expected?

Pastor, Pau

Neurology

2009 Volume 73, Issue 2, Page(s) 86–87

MeSH term(s)	Dementia/epidemiology ; Dementia/genetics ; Family ; Genetic Predisposition to Disease ; Humans ; Mutation ; Parkinsonian Disorders/epidemiology ; Parkinsonian Disorders/genetics ; Supranuclear Palsy, Progressive/epidemiology ; Supranuclear Palsy, Progressive/genetics ; tau Proteins/genetics
Chemical Substances	MAPT protein, human ; tau Proteins
Language	English
Publishing date	2009-07-14
Publishing country	United States
Document type	Comment ; Editorial
ZDB-ID	207147-2
ISSN	1526-632X ; 0028-3878
ISSN (online)	1526-632X
ISSN	0028-3878
DOI	10.1212/WNL.0b013e3181aa2a71
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Article ; Online: Validity and sensitivity of instrumented postural and gait assessment using low-cost devices in Parkinson's disease.

Álvarez, Ignacio / Latorre, Jorge / Aguilar, Miquel / Pastor, Pau / Llorens, Roberto

Journal of neuroengineering and rehabilitation

2020 Volume 17, Issue 1, Page(s) 149

Abstract: Background: Accurate assessment of balance and gait is necessary to monitor the clinical progress of Parkinson's disease (PD). Conventional clinical scales can be biased and have limited accuracy. Novel interactive devices are potentially useful to ... ...

Abstract	Background: Accurate assessment of balance and gait is necessary to monitor the clinical progress of Parkinson's disease (PD). Conventional clinical scales can be biased and have limited accuracy. Novel interactive devices are potentially useful to detect subtle posture or gait-related impairments. Methods: Posturographic and single and dual-task gait assessments were performed to 54 individuals with PD and 43 healthy controls with the Wii Balance Board and the Kinect v2 and the, respectively. Individuals with PD were also assessed with the Tinetti Performance Oriented Mobility Assessment, the Functional Gait Assessment and the 10-m Walking Test. The influence of demographic and clinical variables on the performance in the instrumented posturographic and gait tests, the sensitivity of these tests to the clinical condition and phenotypes, and their convergent validity with clinical scales were investigated. Results: Individuals with PD in H&Y I and I.5 stages showed similar performance to controls. The greatest differences in posture and gait were found between subjects in H&Y II.5 and H&Y I-I.5 stage, as well as controls. Dual-tasking enhanced the differences among all groups in gait parameters. Akinetic/rigid phenotype showed worse postural control and gait than other phenotypes. High significant correlations were found between the limits of stability and most of gait parameters with the clinical scales. Conclusions: Low-cost devices showed potential to objectively quantify posture and gait in established PD (H&Y ≥ II). Dual-tasking gait evaluation was more sensitive to detect differences among PD stages and compared to controls than free gait. Gait and posture were more impaired in akinetic/rigid PD.
MeSH term(s)	Aged ; Female ; Gait Analysis/instrumentation ; Gait Disorders, Neurologic/diagnosis ; Gait Disorders, Neurologic/etiology ; Gait Disorders, Neurologic/physiopathology ; Humans ; Male ; Middle Aged ; Parkinson Disease/complications ; Parkinson Disease/diagnosis ; Parkinson Disease/physiopathology ; Postural Balance
Language	English
Publishing date	2020-11-11
Publishing country	England
Document type	Clinical Trial ; Journal Article ; Research Support, Non-U.S. Gov't ; Validation Study
ZDB-ID	2164377-5
ISSN	1743-0003 ; 1743-0003
ISSN (online)	1743-0003
ISSN	1743-0003
DOI	10.1186/s12984-020-00770-7
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Article: CSF proteomic profiling with amyloid/tau positivity identifies distinctive sex-different alteration of multiple proteins involved in Alzheimer's disease.

Do, Anh N / Ali, Muhammad / Timsina, Jigyasha / Wang, Lihua / Western, Daniel / Liu, Menghan / Sanford, Jessie / Rosende-Roca, Matitee / Boada, Merce / Puerta, Raquel / Wilson, Ted / Ruiz, Agustin / Pastor, Pau / Wyss-Coray, Tony / Cruchaga, Carlos / Sung, Yun Ju

medRxiv : the preprint server for health sciences

2024

Abstract: In Alzheimer's disease (AD), the most common cause of dementia, females have higher prevalence and faster progression, but sex-specific molecular findings in AD are limited. Here, we comprehensively examined and validated 7,006 aptamers targeting 6,162 ... ...

Abstract	In Alzheimer's disease (AD), the most common cause of dementia, females have higher prevalence and faster progression, but sex-specific molecular findings in AD are limited. Here, we comprehensively examined and validated 7,006 aptamers targeting 6,162 proteins in cerebral spinal fluid (CSF) from 2,077 amyloid/tau positive cases and controls to identify sex-specific proteomic signatures of AD. In discovery (N=1,766), we identified 330 male-specific and 121 female-specific proteomic alternations in CSF (FDR <0.05). These sex-specific proteins strongly predicted amyloid/tau positivity (AUC=0.98 in males; 0.99 in females), significantly higher than those with age, sex, and APOE-ε4 (AUC=0.85). The identified sex-specific proteins were well validated (r≥0.5) in the Stanford study (N=108) and Emory study (N=148). Biological follow-up of these proteins led to sex differences in cell-type specificity, pathways, interaction networks, and drug targets. Male-specific proteins, enriched in astrocytes and oligodendrocytes, were involved in postsynaptic and axon-genesis. The male network exhibited direct connections among 152 proteins and highlighted PTEN, NOTCH1, FYN, and MAPK8 as hubs. Drug target suggested melatonin (used for sleep-wake cycle regulation), nabumetone (used for pain), daunorubicin, and verteporfin for treating AD males. In contrast, female-specific proteins, enriched in neurons, were involved in phosphoserine residue binding including cytokine activities. The female network exhibits strong connections among 51 proteins and highlighted JUN and 14-3-3 proteins (YWHAG and YWHAZ) as hubs. Drug target suggested biperiden (for muscle control of Parkinson's disease), nimodipine (for cerebral vasospasm), quinostatin and ethaverine for treating AD females. Together, our findings provide mechanistic understanding of sex differences for AD risk and insights into clinically translatable interventions.
Language	English
Publishing date	2024-03-16
Publishing country	United States
Document type	Preprint
DOI	10.1101/2024.03.15.24304164
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Article: Brainstem neuromelanin and iron MRI reveals a precise signature for idiopathic and LRRK2 Parkinson's disease.

Martínez, Martín / Ariz, Mikel / Alvarez, Ignacio / Castellanos, Gabriel / Aguilar, Miquel / Hernández-Vara, Jorge / Caballol, Núria / Garrido, Alicia / Bayés, Àngels / Vilas, Dolores / Marti, Maria Jose / Pastor, Pau / de Solórzano, Carlos Ortiz / Pastor, Maria A

NPJ Parkinson's disease

2023 Volume 9, Issue 1, Page(s) 62

Abstract: Neuromelanin (NM) loss in substantia nigra pars compacta (SNc) and locus coeruleus (LC) reflects neuronal death in Parkinson's disease (PD). Since genetically-determined PD shows varied clinical expressivity, we wanted to accurately quantify and locate ... ...

Abstract	Neuromelanin (NM) loss in substantia nigra pars compacta (SNc) and locus coeruleus (LC) reflects neuronal death in Parkinson's disease (PD). Since genetically-determined PD shows varied clinical expressivity, we wanted to accurately quantify and locate brainstem NM and iron, to discover whether specific MRI patterns are linked to Leucine-rich repeat kinase 2 G2019S PD (LRRK2-PD) or idiopathic Parkinson's disease (iPD). A 3D automated MRI atlas-based segmentation pipeline (3D-ABSP) for NM/iron-sensitive MRI images topographically characterized the SNc, LC, and red nucleus (RN) neuronal loss and calculated NM/iron contrast ratio (CR) and normalized volume (nVol). Left-side NM nVol was larger in all groups. PD had lower NM CR and nVol in ventral-caudal SNc, whereas iron increased in lateral, medial-rostral, and caudal SNc. The SNc NM CR reduction was associated with psychiatric symptoms. LC CR and nVol discriminated better among subgroups: LRRK2-PD had similar LC NM CR and nVol as that of controls, and larger LC NM nVol and RN iron CR than iPD. PD showed higher iron SNc nVol than controls, especially among LRRK2-PD. ROC analyses showed an AUC > 0.92 for most pairwise subgroup comparisons, with SNc NM being the best discriminator between HC and PD. NM measures maintained their discriminator power considering the subgroup of PD patients with less than 5 years of disease duration. The SNc iron CR and nVol increase was associated with longer disease duration in PD patients. The 3D-ABSP sensitively identified NM and iron MRI patterns strongly correlated with phenotypic PD features.
Language	English
Publishing date	2023-04-15
Publishing country	United States
Document type	Journal Article
ZDB-ID	2819218-7
ISSN	2373-8057
ISSN	2373-8057
DOI	10.1038/s41531-023-00503-2
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Article ; Online: Peripheral α-synuclein isoforms are potential biomarkers for diagnosis and prognosis of isolated REM sleep behavior disorder.

Arnaldo, Laura / Urbizu, Aintzane / Serradell, Mònica / Gaig, Carles / Anillo, Ana / Gea, Mireia / Vilas, Dolores / Ispierto, Lourdes / Muñoz-Lopetegi, Amaia / Mayà, Gerard / Pastor, Pau / Álvarez, Ramiro / Santamaria, Joan / Iranzo, Alex / Beyer, Katrin

Parkinsonism & related disorders

2023 Volume 115, Page(s) 105832

Abstract: Introduction: Isolated REM sleep behavior disorder (IRBD) represents an early manifestation of the synucleinopathies Parkinson's disease (PD) and dementia with Lewy bodies (DLB). Aggregation of abnormal α-synuclein and its increased expression in the ... ...

Abstract	Introduction: Isolated REM sleep behavior disorder (IRBD) represents an early manifestation of the synucleinopathies Parkinson's disease (PD) and dementia with Lewy bodies (DLB). Aggregation of abnormal α-synuclein and its increased expression in the brain is crucial in the development of the synucleinopathies. Whereas α-synuclein gene (SNCA) transcripts are overexpressed in brain, a concomitant reduction occurs in blood of DLB patients. We assessed whether this decrease is also detectable in IRBD. Methods: 108 IRBD patients and 149 controls were included of which 29 IRBD and 32 control cases were available for expression studies. Expression of SNCAtv1, SNCAtv2, SNCAtv3 and SNCA126 isoforms, and GBA were determined by real-time PCR. Genotype distribution of SNCA SNPs, rs356219 and rs2736990, and correlation with SNCA expression was analyzed. Results: Expression of all SNCA transcripts was reduced in IRBD blood whereas GBA expression did not change. SNCAtv3 expression correlated inversely with IRBD duration, being lower in patients with longer follow-up. Rs356219-AA genotype frequency was increased in IRBD patients who later developed PD and DLB. Rs2736990-CC frequency was increased among IRBD cases who remained disease-free. No correlation was observed between rs356219 and rs2736990 genotypes and SNCA transcript levels. Conclusion: SNCA transcript expression is decreased in blood in IRBD, and levels decrease with IRBD duration. Our findings indicate that changes in SNCA expression occur in the earliest stages of the synucleinopathies before motor and cognitive symptoms become apparent.
Language	English
Publishing date	2023-09-03
Publishing country	England
Document type	Journal Article
ZDB-ID	1311489-x
ISSN	1873-5126 ; 1353-8020
ISSN (online)	1873-5126
ISSN	1353-8020
DOI	10.1016/j.parkreldis.2023.105832
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Article: Genomic Markers for Essential Tremor.

Jiménez-Jiménez, Félix Javier / Alonso-Navarro, Hortensia / García-Martín, Elena / Álvarez, Ignacio / Pastor, Pau / Agúndez, José A G

Pharmaceuticals (Basel, Switzerland)

2021 Volume 14, Issue 6

Abstract: There are many reports suggesting an important role of genetic factors in the etiopathogenesis of essential tremor (ET), encouraging continuing the research for possible genetic markers. Linkage studies in families with ET have identified 4 genes/loci ... ...

Abstract	There are many reports suggesting an important role of genetic factors in the etiopathogenesis of essential tremor (ET), encouraging continuing the research for possible genetic markers. Linkage studies in families with ET have identified 4 genes/loci for familial ET, although the responsible gene(s) have not been identified. Genome-wide association studies (GWAS) described several variants in
Language	English
Publishing date	2021-05-27
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2193542-7
ISSN	1424-8247
ISSN	1424-8247
DOI	10.3390/ph14060516
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Article ; Online: Vitamin D Receptor and Binding Protein Gene Variants in Patients with Essential Tremor.

Agúndez, José A G / García-Martín, Elena / Alonso-Navarro, Hortensia / Rodríguez, Christopher / Díez-Fairén, Mónica / Álvarez, Ignacio / Pastor, Pau / Benito-León, Julián / López-Alburquerque, Tomás / Jiménez-Jiménez, Félix Javier

Molecular neurobiology

2022 Volume 59, Issue 6, Page(s) 3458–3466

Abstract: Several studies have shown an association between some variants in the vitamin D receptor (VDR) and the GC vitamin D binding protein (GC) genes with the risk for Parkinson's disease or other neurological disorders. VDR rs2228570 has shown an association ... ...

Abstract	Several studies have shown an association between some variants in the vitamin D receptor (VDR) and the GC vitamin D binding protein (GC) genes with the risk for Parkinson's disease or other neurological disorders. VDR rs2228570 has shown an association with essential tremor (ET) in a previous study. The aim of this study is to look for the association between several common variants in these genes and the risk for ET. We genotyped 272 patients diagnosed with familial ET and 272 age-matched controls using specific TaqMan assays for VDR rs2228570, VDR rs731236, VDR rs7975232, VDR rs739837, VDR rs78783628, GC rs7041, and GC rs4588 single nucleotide variants (SNVs). We found an association between GC rs7041 SNV and ET using recessive, codominant, and allelic models. Despite our results did not find an association between VDR rs2228570 and ET, the pooled data with those by a previous report suggest this association under recessive, codominant, and allelic models. None of the SNVs studied was related to the age at onset of tremor in ET patients. Data from the current study suggest an association between GC rs7041 and VDR rs2228570 SNVs and ET risk.
MeSH term(s)	Alleles ; Case-Control Studies ; Essential Tremor/genetics ; Genetic Predisposition to Disease ; Genotype ; Humans ; Polymorphism, Single Nucleotide/genetics ; Receptors, Calcitriol/genetics ; Vitamin D ; Vitamin D-Binding Protein/genetics
Chemical Substances	Receptors, Calcitriol ; VDR protein, human ; Vitamin D-Binding Protein ; Vitamin D (1406-16-2)
Language	English
Publishing date	2022-03-24
Publishing country	United States
Document type	Journal Article
ZDB-ID	645020-9
ISSN	1559-1182 ; 0893-7648
ISSN (online)	1559-1182
ISSN	0893-7648
DOI	10.1007/s12035-022-02804-8
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