A5041598525- Genetic Neurodegenerative Diseases
- Parkinson's Disease Mechanisms and Treatments
- Mitochondrial Function and Pathology
- Advanced Neuroimaging Techniques and Applications
- Infant Development and Preterm Care
- Functional Brain Connectivity Studies
- Neonatal and fetal brain pathology
- Neurology and Historical Studies
- Neurogenetic and Muscular Disorders Research
- Advanced MRI Techniques and Applications
- Child and Adolescent Psychosocial and Emotional Development
- Attention Deficit Hyperactivity Disorder
- Alcoholism and Thiamine Deficiency
- Cerebral Palsy and Movement Disorders
- Hereditary Neurological Disorders
- Microtubule and mitosis dynamics
- Autophagy in Disease and Therapy
- Children's Physical and Motor Development
- Family and Disability Support Research
- Biochemical and biochemical processes
- Child Nutrition and Feeding Issues
- Muscle Physiology and Disorders
- Childhood Cancer Survivors' Quality of Life
University of the Basque Country
2018-2025
Centro de Investigación Biomédica en Red
2019-2025
Biomedical Research Networking Center on Neurodegenerative Diseases
2019-2025
Biogipuzkoa Health Research Institute
2018-2023
Instituto de Salud Carlos III
2022
Osakidetza
2020
Introduction: Myotonic dystrophy type 1 (DM1) patients show both structural and functional brain alterations, including abnormal resting-state (RS) connectivity. Although some studies have investigated RS connectivity in DM1, methodological differences make it challenging to draw consistent conclusions. Objectives: This study aims analyze 1) DM1 compared healthy controls (HC), 2) graph theory metrics, 3) longitudinal variations, 4) the relationship between clinical, cognitive, data....
Aging CellVolume 24, Issue 1 e14480 ADDITIONAL COVEROpen Access Additional Cover Nathalie Launay, LaunaySearch for more papers by this authorMaria Espinosa-Alcantud, Maria Espinosa-AlcantudSearch authorEdgard Verdura, Edgard VerduraSearch authorGorka Fernández-Eulate, Gorka Fernández-EulateSearch authorJon Ondaro, Jon OndaroSearch authorPablo Iruzubieta, Pablo IruzubietaSearch Marsal, MarsalSearch authorAgatha Schlüter, Agatha SchlüterSearch authorMontserrat Ruiz, Montserrat RuizSearch...
• Predominance of white matter impairment in DM1 is questioned. Age poses vulnerability to grey loss specific areas DM1. White alterations may be developmental. Muscular and genetic features are associated with brain abnormalities Neuropsychology an unspecific but strong predictor gray damage Myotonic Dystrophy type 1 (DM1) a slowly progressive myopathy characterized by varying multisystemic involvement. Several cerebral such as atrophy, ventricular enlargement, lesions (WMLs) have...
Myotonic Dystrophy Type 1 (DM1) is a multisystemic disease that affects gray and white matter (WM) tissues. WM changes in DM1 include increased hyperintensities altered tract integrity distributed widespread manner. However, the precise temporal spatial progression of are yet undetermined. MRI data were acquired from 8 adult- late-onset patients 10 healthy controls (HC) at two different timepoints over 9.06 years. Fractional anisotropy (FA) mean diffusivity (MD) variations assessed with...
Myotonic dystrophy type 1 (DM1) is an inherited multi-systemic disease involving the central nervous system (CNS) and consequently characterized by a range of cognitive impairments. However, whether this profile progresses over time still matter debate. The aim study was to longitudinally assess DM1 sample, in order compare, for first time, progression with that control group. Clinical socio-demographic predictive factors potentially implicated possible decline are analysed.Seventy-five...
Abstract Objective To characterize the progression of brain structural abnormalities in adults with pediatric and adult/late onset DM1, as well to examine potential predictive markers such progression. Methods 21 DM1 patients (pediatric onset: N = 9; 12) 18 healthy controls (HC) were assessed longitudinally over 9.17 years through MRI. Additionally, underwent neuropsychological, genetic, muscular impairment assessment. Inter‐group comparisons total voxel‐level regional volume conducted Voxel...
Introduction Myotonic dystrophy type 1 (DM1) is a hereditary neuromuscular disorder affecting the central nervous system (CNS). Although sex differences have been explored in other disorders, research on this topic DM1 remains limited. The present study aims to analyze (both patient’s and disease-transmitting parent’s sex) with focus CNS outcomes. Methods Retrospective data from 146 non-congenital patients were analyzed, including clinical, molecular, neuropsychological, neuroradiological...
Aims The cognitive profile of Myotonic Dystrophy type 1 (DM1) has been described in recent decades. Moreover, DM1 patients show lowered social engagement and difficulties social-cognitive functions. aim the present study is to explore whether cognition impairment taking into account overall condition. Method 38 a control group paired age gender participated study. All participants had an IQ within normal range. Subjects were administered abbreviated neuropsychological battery which comprised...
To delineate the neurogenetic profiles of brain degeneration patterns in myotonic dystrophy type I (DM1).
Central nervous system dysfunction is characteristic of patients with myotonic dystrophy type 1 (DM1). Although no consensus exists regarding the exact cognitive profile these patients, executive has been suggested to play a role. Due impact functions on daily performance, this study aimed describe functioning in an ecological manner and analyze its - that other clinical variables functional performance DM1 patients. A Virtual Reality test (Nesplora Ice Cream), Wechsler Adult Intelligence...
Determine whether SGA constitutes a neurodevelopmental risk-factor of MLP, exploring if potential developmental difficulties at toddlerhood persist and are related to school-age performance. 109 adequate for gestational age MLP children were evaluated 2 6.5 y.o. obtained poorer results in several areas both timepoints; their development strongly correlated with only some school-age. confers vulnerability evolving from global/unspecific domain-specific profile (attentional/dysexecutive) 6.5....
Currently, no rapid and specific instrument is available to briefly estimate intelligence in patients with myotonic dystrophy type 1 (DM1), a multisystemic disease that involves the CNS associated cognitive deficits low intellectual functioning. This study aimed develop DM1-specific valid short-form of Wechsler Adult Intelligence Scale-Fourth Edition (WAIS-IV) functioning this population. Thirty non-congenital DM1 (10 female; mean age=46.77; SD= 9.76) were assessed WAIS-IV. Data analyzed...
Abstract Senescence, marked by permanent cell cycle arrest may contribute to the decline in regenerative potential and neuronal function, thereby promoting neurodegenerative disorders. In this study, we employed whole exome sequencing identify a previously unreported biallelic missense variant SVBP (p.Leu49Pro) six patients from three unrelated families. These affected individuals present with complex hereditary spastic paraplegia (HSP), peripheral neuropathy, verbal apraxia, intellectual...
Myotonic dystrophy type 1 (DM1) is a hereditary and multisystemic disease that characterized by heterogeneous manifestations. Although muscular impairment central to DM1, premanifest DM1 form has been proposed for those the absence of muscle signs in precursory phases. Nevertheless, subtle and/or symptoms related other systems, such as nervous system (CNS), may emerge progress gradually. This study aimed validate concept characterize track affected individuals from CNS centred...
Abstract Despite significant research, the biological mechanisms underlying brain degeneration in Myotonic Dystrophy Type I (DM1) remain largely unknown. Here we have assessed by measuring volume loss (VL) and cognitive deficits (CD) two cohorts of DM1 patients, associating them to large-scale transcriptome maps provided Allen Human Brain Atlas (AHBA). From a list preselected hypothesis-driven genes, three appear play major role degeneration: dystrophin ( DMD) , alpha-synuclein SNCA)...
Very preterm children (gestational age < 32 weeks) frequently show neurodevelopmental difficulties (Inattention/dysexecutiveness) throughout their life-stages. A scarcity of resources, along with this population’s cognitive vulnerability, makes the neuropsychological evaluation these both complicated and time-consuming. This study aimed to develop a specific valid Wechsler Intelligence Scale for Children-Fifth Edition (WISC-V) short-form estimate intellectual functioning in...
Introduction Among the cognitive difficulties shown by myotonic dystrophy type 1 (DM1) patients, visuoconstructional impairment – specifically measured with Rey-Osterrieth Complex Figure Test (RCFT) is particularly notable. This study aimed to analyze performance of DM1 patients and healthy controls (HC) in RCFT, using different correction systems order explore processes underlying poor its associations other signs symptoms.
Abstract Background: Myotonic Dystrophy Type 1 (DM1) is a multisystemic disease that affects gray and white matter (WM) tissues. WM changes in DM1 include increased hyperintensities altered tract integrity distributed widespread manner. However, the precise spatiotemporal are yet undetermined. Methods: MRI data were acquired from 8 adult- late-onset patients 10 healthy controls (HC) at two different timepoints over 9.06 years. Fractional anisotropy (FA) variations assessed with Tract-Based...