Javier Ruiz‐Martínez

Biogipuzkoa Health Research Institute

Author Statistics

Papers

Citation

H-Index

i-10 index

Research Trends

Author Order

Document Type

Co-Authors

Juan Carlos Martínez‐Castrillo

Hospital Universitario Ramón y Cajal

Lydia Vela

Hospital Universitario Fundación Alcorcón

Pablo Mir

Hospital Universitario Virgen del Rocío

Silvia Jesús

Instituto de Biomedicina de Sevilla

Jaime Kulisevsky

Universitat Autònoma de Barcelona

Isabel González Aramburu

Instituto de Salud Carlos III

Adolfo López de Munaín

Biogipuzkoa Health Research Institute

Marta Blázquez Estrada

Central University Hospital of Asturias

J.F. Martí-Massó

Biogipuzkoa Health Research Institute

Pau Pástor

Universidad de Sevilla

Cooperative Institutions

Biomedical Research Networking Center on Neurodegenerative Diseases

197

Instituto de Salud Carlos III

188

Centro de Investigación Biomédica en Red

146

University College London

132

Biogipuzkoa Health Research Institute

102

Genomics England

National Hospital for Neurology and Neurosurgery

Inserm

Universitat de Barcelona

University of Toronto

Author Statistics

Papers

Citation

H-Index

i-10 index

Research Field

The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population‐Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight

Movement Disorders (2019)

Sara Bandrés‐Ciga Sarah Ahmed Marya S. Sabir Cornelis Blauwendraat Astrid Adarmes‐Gómez

The Iberian Peninsula stands out as having variable levels of population admixture and isolation, making Spain an interesting setting for studying the genetic architecture of neurodegenerative diseases.

Genetic architecture

10.1002/mds.27864

Cite

Citations (57)

Olfactory deficits and cardiac ¹²³I‐MIBG in Parkinson's disease related to the LRRK2 R1441G and G2019S mutations

Movement Disorders (2011)

Javier Ruiz‐Martínez Ana Gorostidi Estíbaliz Goyenechea Ainhoa Alzualde Juan José Poza

Abstract It has been proposed that olfactory tests and metaiodobenzylguanidine cardiac scintigraphy may help diagnose idiopathic Parkinson's disease in the premotor phase. However, it is not clear what value these tests have in all patients with Parkinson's disease and, particularly, in those who carry mutations in LRRK2 . The objective was to analyze olfactory dysfunction and the changes in cardiac I‐metaiodobenzylguanidine uptake in patients with Parkinson's disease carrying the R1441G and G2019S mutations in LRRK2 , and in patients with Parkinson's disease with no known mutations. Patients with Parkinson's disease were screened for R1441G and G2019S LRRK2 gene mutations and classified as LRRK2 mutation carriers or noncarriers. A total of 190 patients with Parkinson's disease (44 LRRK2 mutation carriers) were tested for olfactory dysfunction using the Brief Smell Identification Test. Cardiac 123 I‐metaiodobenzylguanidine scintigraphy was performed on 90 patients with Parkinson's disease (27 LRRK2 mutation carriers). Thirty‐six percent of patients with LRRK2 mutations have hyposmia, compared to 75% of noncarrier patients with Parkinson's disease ( P < .001). Sixty‐six percent of LRRK2 mutation carriers have low early metaiodobenzylguanidine uptake, compared to 86% of noncarriers ( P = .048). Similarly, the heart/mediastinum ratio in delayed metaiodobenzylguanidine images appeared to differ between these groups of patients with Parkinson's disease, although these results did not reach statistical significance. The data obtained indicate that olfactory and cardiac impairment is less prevalent when Parkinson's disease is associated with mutations in LRRK2 , although the underlying mechanisms for this difference remain unclear. Thus, such screening would be less useful to detect the premotor phase in asymptomatic relatives who carry mutations in LRRK2 than in cases not associated with LRRK2 . © 2011 Movement Disorder Society

LRRK2

Hyposmia

10.1002/mds.23773

Cite

Citations (53)

Neuropathology of Parkinson's disease with the R1441G mutation in LRRK2

Movement Disorders (2009)

J.F. Martí-Massó Javier Ruiz‐Martínez Maria J. Bolaño Irune Ruiz Ana Gorostidi

We report the neuropathological findings in a patient with Parkinson's disease (PD) associated with Basque R1441G-LRRK2/dardarin mutation. The patient was a man with disease onset at 68 years of age, with unilateral rest tremor; the Parkinsonism was well controlled with medication for 15 years. He died at the age of 86, after 18 years of evolution. The neuropathological examination disclosed mild neuronal loss in the substantia nigra pars compacta without alpha-synuclein, tau, LRRK2, or ubiquitin cytoplasmic inclusions. Lewy bodies and Lewy neurites were absent. This is the first neuropathological study of PD associated with brain with the R1441G mutation in LRRK2.

Pars compacta

LRRK2

Neuropathology

Lewy body

10.1002/mds.22677

Cite

Citations (65)

Sex Differences in Motor and Non-Motor Symptoms among Spanish Patients with Parkinson’s Disease

Journal of Clinical Medicine (2023)

Diego Santos‐García Ariadna Laguna Jorge Hernández‐Vara Teresa de Deus Fonticoba Carlos Cores Bartolomé

Background and objective: Sex plays a role in Parkinson’s disease (PD) mechanisms. We analyzed sex difference manifestations among Spanish patients with PD. Patients and Methods: PD patients who were recruited from the Spanish cohort COPPADIS from January 2016 to November 2017 were included. A cross-sectional and a two-year follow-up analysis were conducted. Univariate analyses and general linear model repeated measure were used. Results: At baseline, data from 681 PD patients (mean age 62.54 ± 8.93) fit the criteria for analysis. Of them, 410 (60.2%) were males and 271 (39.8%) females. There were no differences between the groups in mean age (62.36 ± 8.73 vs. 62.8 ± 9.24; p = 0.297) or in the time from symptoms onset (5.66 ± 4.65 vs. 5.21 ± 4.11; p = 0.259). Symptoms such as depression (p < 0.0001), fatigue (p < 0.0001), and pain (p < 0.00001) were more frequent and/or severe in females, whereas other symptoms such as hypomimia (p < 0.0001), speech problems (p < 0.0001), rigidity (p < 0.0001), and hypersexuality (p < 0.0001) were more noted in males. Women received a lower levodopa equivalent daily dose (p = 0.002). Perception of quality of life was generally worse in females (PDQ-39, p = 0.002; EUROHIS-QOL8, p = 0.009). After the two-year follow-up, the NMS burden (Non-Motor Symptoms Scale total score) increased more significantly in males (p = 0.012) but the functional capacity (Schwab and England Activities of Daily Living Scale) was more impaired in females (p = 0.001). Conclusion: The present study demonstrates that there are important sex differences in PD. Long-term prospective comparative studies are needed.

Motor symptoms

10.3390/jcm12041329

Cite

Citations (12)

Predictors of the change in burden, strain, mood, and quality of life among caregivers of Parkinson's disease patients

International Journal of Geriatric Psychiatry (2022)

Diego Santos‐García Teresa de Deus Fonticoba Carlos Cores Bartolomé María Cristina Íñiguez Alvarado Maria J. Feal Panceiras

Abstract Background and Objective Caregiver burden in Parkinson's disease (PD) has been studied in many cross‐sectional studies but poorly in longitudinal ones. The aim of the present study was to analyze the change in burden, strain, mood, and quality of life (QoL) after a 2‐year follow‐up in a cohort of caregivers of patients with PD and also to identify predictors of these changes. Patients and Methods PD patients and their caregivers who were recruited from January/2016 to November/2017 from 35 centers of Spain from the COPPADIS cohort were included in the study. They were evaluated again at 2‐year follow‐up. Caregivers completed the Zarit Caregiver Burden Inventory (ZCBI), Caregiver Strain Index (CSI), Beck Depression Inventory‐II (BDI‐II), and EUROHIS‐QOL 8‐item index (EUROHIS‐QOL8) at baseline (V0) and at 2‐year follow‐up (V2). General linear model repeated measure and lineal regression models were applied. Results Significant changes, indicating an impairment, were detected on the total score of the ZCBI ( p < 0.0001), CSI ( p < 0.0001), BDI‐II ( p = 0.024), and EUROHIS‐QOL8 ( p = 0.002) in 192 PD caregivers (58.82 ± 11.71 years old; 69.3% were females). Mood impairment (BDI‐II; β = 0.652; p < 0.0001) in patients from V0 to V2 was the strongest factor associated with caregiver's mood impairment after the 2‐year follow‐up. Caregiver's mood impairment was the strongest factor associated with an increase from V0 to V2 on the total score of the ZCBI ( β = 0.416; p < 0.0001), CSI ( β = 0.277; p = 0.001), and EUROHIS‐QOL ( β = 0.397; p = 0.002). Conclusion Burden, strain, mood, and QoL were impaired in caregivers of PD patients after a 2‐year follow‐up. Mood changes in both the patient and the caregiver are key aspects related to caregiver burden increase.

Caregiver Burden

Depression

10.1002/gps.5761

Cite

Citations (13)

Response of 10 maize cultivars to population density in three localities of the mexiquense center.

Revista Mexicana de Ciencias Agrícolas (2017)

Jorge Quiróz Mercado Delfina de Jesús Pérez López Andrés González Huerta Martín Rubí-Arriaga Francisco Gutiérrez Rodríguez

Center (category theory)

Population density

Source

Cite

Citations (0)

Increased homocysteine levels correlate with cortical structural damage in Parkinson's disease

Journal of the Neurological Sciences (2022)

Frederic Sampedro Saül Martínez‐Horta Andrea Horta‐Barba Michel J. Grothe Miguel A. Labrador‐Espinosa

10.1016/j.jns.2022.120148

Cite

Citations (23)

Ratios of proteins in cerebrospinal fluid in Parkinson's disease cognitive decline: prospective study

Movement Disorders (2018)

Manuel Delgado‐Alvarado Rosalía Dacosta‐Aguayo Irene Navalpotro‐Gómez Belén Gago Ana Gorostidi

ABSTRACT Background : There is a need for biomarkers of dementia in PD. Objectives : To determine if the levels of the main CSF proteins and their ratios are associated with deterioration in cognition and progression to dementia in the short to mid term. Methods : The Parkinson's Progression Markers Initiative database was used as an exploratory cohort, and a center‐based cohort was used as a replication cohort. Amyloid ß1‐42, total tau, threonine‐181 phosphorylated tau, and α‐synuclein in the CSF and the ratios of these proteins were assessed. Results : In the Parkinson's Progression Markers Initiative cohort (n = 281), the total tau/amyloid ß1‐42, total tau/α‐synuclein, total tau/amyloid ß1‐42+α‐synuclein, and amyloid ß1‐42/total tau ratios were associated with a risk of progression to dementia over a 3‐year follow‐up. In the replication cohort (n = 40), the total tau/α‐synuclein and total tau/amyloid ß1‐42+α‐synuclein ratios were associated with progression to dementia over a 41‐month follow‐up. Conclusion : Ratios of the main proteins found in PD patient brain inclusions that can be measured in the CSF appear to have value as short‐ to mid‐term predictors of dementia. © 2018 International Parkinson and Movement Disorder Society

Cognitive Decline

Tau protein

Amyloid (mycology)

10.1002/mds.27518

Cite

Citations (8)

Non-motor symptoms burden, mood, and gait problems are the most significant factors contributing to a poor quality of life in non-demented Parkinson's disease patients: Results from the COPPADIS Study Cohort

Parkinsonism & Related Disorders (2019)

Diego Santos‐García T. de Deus Fonticoba E. Suárez Castro Carmen Borrué M. Mata

Depression

10.1016/j.parkreldis.2019.07.031

Cite