Jon Infante
A5028976895- Genetic Neurodegenerative Diseases
- Parkinson's Disease Mechanisms and Treatments
- Mitochondrial Function and Pathology
- Neurological diseases and metabolism
- Alzheimer's disease research and treatments
- Hereditary Neurological Disorders
- Neurological disorders and treatments
- RNA regulation and disease
- DNA Repair Mechanisms
- Botulinum Toxin and Related Neurological Disorders
- Nuclear Receptors and Signaling
- Peripheral Neuropathies and Disorders
- Amyotrophic Lateral Sclerosis Research
- Lysosomal Storage Disorders Research
- Neuroinflammation and Neurodegeneration Mechanisms
- Cholesterol and Lipid Metabolism
- Dementia and Cognitive Impairment Research
- Neurogenetic and Muscular Disorders Research
- Glycogen Storage Diseases and Myoclonus
- Restless Legs Syndrome Research
- Colorectal Cancer Treatments and Studies
- Genetics and Neurodevelopmental Disorders
- Drug Transport and Resistance Mechanisms
- Autism Spectrum Disorder Research
- Genetic Associations and Epidemiology
Marqués de Valdecilla University Hospital
2016-2025
Biomedical Research Networking Center on Neurodegenerative Diseases
2016-2025
Universidad de Cantabria
2016-2025
Centro de Investigación Biomédica en Red
2014-2025
Instituto de Investigación Marqués de Valdecilla
2015-2025
Hospital de Sant Pau
2020-2025
Donostia Unibertsitate Ospitalea
2025
Instituto de Salud Carlos III
2011-2024
University of North Dakota
2023
University of Michigan
2023
To develop a reliable and valid clinical scale measuring the severity of ataxia.The authors devised Scale for Assessment Rating Ataxia (SARA) tested it in two trials 167 119 patients with spinocerebellar mean time to administer SARA was 14.2 +/- 7.5 minutes (range 5 40). Interrater reliability high, an intraclass coefficient (ICC) 0.98. Test-retest high ICC 0.90. Internal consistency as indicated by Cronbach's alpha 0.94. Factorial analysis revealed that rating results were determined single...
ABSTRACT Nonmotor symptoms (NMS) in Parkinson's disease (PD) can precede onset of motor symptoms. Relationship between premotor and features is limited. Our aim to describe the presence perceived NMS PD as well their possible association with phenotype. Presence were assessed by a custom‐made questionnaire 109 newly diagnosed untreated patients 107 controls from 11 Spanish Austrian centers. Seventeen thirty‐one more common than ( P < 0.05). They usually mild frequently reported occur at...
To delineate the full phenotypic spectrum, discriminative features, piloting longitudinal progression data, and sample size calculations of replication factor complex subunit 1 (RFC1) repeat expansions, recently identified as causing cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS).Multimodal RFC1 screening (PCR, Southern blot, whole-exome/genome sequencing-based approaches) combined with cross-sectional deep phenotyping in (1) cross-European cohort A (70 families) ≥2...
Estimates of the spectrum and frequency pathogenic variants in Parkinson's disease (PD) different populations are currently limited biased. Furthermore, although therapeutic modification several genetic targets has reached clinical trial stage, a major obstacle conducting these trials is that PD patients largely unaware their status and, therefore, cannot be recruited. Expanding number investigated PD-related genes including related to disorders with overlapping features large,...
<b>Objective: </b> To identify factors that determine disease severity and clinical phenotype of the most common spinocerebellar ataxias (SCAs), we studied 526 patients with SCA1, SCA2, SCA3. or SCA6. <b>Methods: measure ataxia used Scale for Assessment Rating Ataxia (SARA). In addition, nonataxia symptoms were assessed Inventory Non-Ataxia Symptoms (INAS). The INAS count denotes number in each patient. <b>Results: An analysis covariance SARA score as dependent variable repeat lengths...
To obtain quantitative data on the progression of most common spinocerebellar ataxias (SCAs) and identify factors that influence their progression, we initiated EUROSCA natural history study, a multicentric longitudinal cohort study 526 patients with SCA1, SCA2, SCA3, or SCA6. We report results 1- 2-year follow-up visits.As primary outcome measure used Scale for Assessment Rating Ataxia (SARA, 0-40), as secondary Inventory Non-Ataxia Symptoms (INAS, 0-16) count.The annual increase SARA score...
<b>Objective:</b> To determine the longitudinal metric properties of recently developed clinical assessment tools in spinocerebellar ataxia (SCA). <b>Methods:</b> A subset 171 patients from EUROSCA natural history study cohort (43 SCA1, 61 SCA2, 37 SCA3, and 30 SCA6) were examined after 1 year follow-up. Score changes effect size indices calculated for scales (Scale Assessment Rating Ataxia [SARA], Inventory Non-Ataxia Symptoms [INAS]), functional tests (SCA Functional Index [SCAFI]...
<h3>Objective:</h3> To identify genetic variants that play a role in the pathogenesis of multiple system atrophy (MSA), we undertook genome-wide association study (GWAS). <h3>Methods:</h3> We performed GWAS with >5 million genotyped and imputed single nucleotide polymorphisms (SNPs) 918 patients MSA European ancestry 3,864 controls. cases were collected from North American centers, one third which neuropathologically confirmed. <h3>Results:</h3> found no significant loci after stringent...
<h3>Background</h3> The most common spinocerebellar ataxias (SCA)—SCA1, SCA2, SCA3, and SCA6—are caused by (CAG)n repeat expansion. While the number of repeats coding expansions is correlated with age at onset, there are no appropriate models that include both affected preclinical carriers allowing for prediction onset. <h3>Methods</h3> We combined data from two major European cohorts SCA1, SCA6 mutation carriers: 1187 individuals EUROSCA registry 123 RISCA cohort. For each SCA genotype, a...
Article8 June 2020Open Access Source DataTransparent process Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage humans mice Carlo Wilke orcid.org/0000-0002-7250-8597 Hertie Institute for Clinical Brain Research (HIH), Center of Neurology, University Tübingen, Germany German Neurodegenerative Diseases (DZNE), Search more papers by this author Eva Haas Medical Genetics Applied Genomics, Centre Rare Diseases, Kathrin Reetz Department RWTH Aachen...
The arrival of new disease-modifying treatments for Alzheimer's disease (AD) requires the identification subjects at risk in a simple, inexpensive, and non-invasive way. With tools allowing an adequate screening, it would be possible to optimize use these treatments. Plasma markers AD are very promising, but is necessary prove that alterations their levels related gold standard such as cerebrospinal fluid or PET imaging. this research, we want evaluate performance plasma Aβ40, Aβ42, p-tau181...
Highlights•Generation of a foundational genomic resource in multiple system atrophy•GWAS identifies novel risk loci at GAB1, lnc-LRRC49-3, TENM2, and RABGEF1•Functional genomics implicates USP38-DT, KCTD7, lnc-KCTD7-2 within these loci•Gene-burden analysis nominal enrichment rare missense mutations KCTD7SummaryMultiple atrophy (MSA) is an adult-onset, sporadic synucleinopathy characterized by parkinsonism, cerebellar ataxia, dysautonomia. The genetic architecture MSA poorly understood,...
Plasma biomarkers for Alzheimer’s disease (AD) are a promising tool that may help in early diagnosis. However, their levels be influenced by physiological parameters and comorbidities should considered before they can used at the population level. For this purpose, we assessed influences of different on AD plasma markers 208 cognitively unimpaired subjects. We analyzed both cerebrospinal fluid Aβ40, Aβ42, p-tau181 using fully automated Lumipulse platform. The relationships between variables...
GAA-FGF14 ataxia (SCA27B) is a recently reported late-onset caused by GAA repeat expansion in intron 1 of the FGF14 gene. After clinical observation superior cerebellar peduncle (SCP) involvement some affected patients, we sought to verify prevalence this finding our cohort and 4 additional independent cohorts patients with SCA27B. We performed retrospective review brain MRI scans total 87 (median age at 69 years; range 28-88 years) from different assess presence SCP involvement, defined as...
To evaluate the usefulness of functional measures in patients with spinocerebellar ataxia (SCA).We assessed three measures-8 m walking time (8MW), 9-hole peg test (9HPT), and PATA repetition rate-in 412 autosomal dominant SCA (genotypes 1, 2, 3, 6) a multicenter trial.While rate was normally distributed (mean/median 21.7/20.5 per 10 s), performance times for 8MW 10.8/7.5 s) or 9HPT 47.2/35.0 s dominant, 52.2/37.9 nondominant hand) were markedly skewed. Possible learning effects small likely...
Objective – As vascular endothelial growth factor (VEGF) determines important neurotrophic and neuroprotective actions, we postulated serum VEGF levels could be abnormally low in patients with Alzheimer's disease (AD). Methods We measured (VEGF165 isoform by ELISA) 51 AD National Institute of Neurological Communicative Disorders Stroke-Alzheimer's Disease Related Disorder Association criteria compared 66 age- gender-matched non-demented controls. Patients were stratified into dementia...
Mutations in the SPG7 gene were initially reported patients with autosomal recessive hereditary spastic paraplegia (HSP). Recent works suggested a dominant effect for some mutations. To characterize mutational spectrum large cohort of Spanish HSP patients, we sequenced whole total 285 Spastic Paraplegia patients. Large rearrangements also ascertained We found 14 mutations (12 new) patients; 2 deletions. All mutation carriers had an adult onset age but only five (35%) complicated phenotype....
Abstract This is a description of the prevalence and profile depressive symptoms in dominant spinocerebellar ataxia (SCA). Depressive were assessed convenience sample 526 genetically confirmed clinically affected patients (117 SCA1, 163 SCA2, 139 SCA3, 107 SCA6) using Patient Health Questionnaire (PHQ). In addition, status according to examiner use antidepressants was recorded. Depression self‐assessment compared with an interview‐based psychiatric assessment subset 26 patients. estimates...