A5052690048- Psychological Treatments and Disorders
- Prion Diseases and Protein Misfolding
- Psychology and Mental Health
- Neurogenetic and Muscular Disorders Research
- Muscle Physiology and Disorders
- Amyotrophic Lateral Sclerosis Research
- Biochemical and Molecular Research
- Neurological diseases and metabolism
- Sarcoidosis and Beryllium Toxicity Research
- Body Image and Dysmorphia Studies
- RNA regulation and disease
- Childhood Cancer Survivors' Quality of Life
- Neurology and Historical Studies
- Aging, Health, and Disability
- Public Health and Social Inequalities
- Metabolism and Genetic Disorders
- RNA modifications and cancer
- Neurological disorders and treatments
- Alcoholism and Thiamine Deficiency
- IgG4-Related and Inflammatory Diseases
- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- Actinomycetales infections and treatment
Hospital de Galdakao
2022-2024
Osakidetza
2024
University of the Basque Country
2024
Hospital Txagorritxu
2021-2022
Hospital Universitario Araba
2020
Abstract Huntington disease (HD) is a neurodegenerative disorder caused by ≥36 CAGs in the HTT gene. Intermediate alleles (IAs) (27–35 CAGs) are not considered HD-causing, but their potential association with neurocognitive symptoms remains controversial. As somatic CAG expansion influences HD onset, we hypothesised that IAs somatically unstable, and may drive phenotypic presentation some IA carriers. We quantified expansions MiSeq sequencing blood DNA of 164 subjects 191 (symptomatic...
Abstract Amyotrophic Lateral Sclerosis (ALS) is a multisystemic neurodegenerative disorder, with accumulating evidence indicating metabolic disruptions in the skeletal muscle preceding disease symptoms, rather than them manifesting as secondary consequence of motor neuron (MN) degeneration. Hence, energy homeostasis deeply implicated complex physiopathology ALS and has emerged key therapeutic target. Here, we describe intrinsic abnormalities muscle, both patient-derived cells cell lines...
Sporadic Creutzfeldt-Jakob disease is a rapidly progressing and highly variable neurodegenerative with heterogeneous clinical presentation median survival time from diagnosis to death of 4-6 months.We report rare case 61-year-old woman history initially progressive dementia, subsequent development pyramidal extrapyramidal signs an unusually long period 14 years. Initial magnetic resonance imaging evaluation, single-photon emission computed tomography, electroencephalogram did not show...
ABSTRACT Amyotrophic Lateral Sclerosis (ALS) is a multisystemic neurodegenerative disorder, with accumulating evidence indicating metabolic disruptions in the skeletal muscle preceding disease symptoms, rather than them manifesting as secondary consequence of motor neuron (MN) degeneration. Hence, energy homeostasis deeply implicated complex physiopathology ALS and has emerged key therapeutic target. Here, we describe intrinsic abnormalities muscle, both patient-derived cells cell lines...
Tolosa-Hunt syndrome (THS) is an idiopathic condition included in the differential diagnosis of painful ophthalmoplegia. Although this was once a common diagnosis, increasing availability tests reveals alternative etiology many cases. Exclusion treatable disorders important, because prognosis may otherwise be poor. We here describe patient who presented with ophthalmoplegia infiltrating lesion cavernous sinus. Initially suspected THS, he had fatal evolution, and postmortem evaluation...
Abstract Background Glutaric aciduria type 2 is a rare, lethal disorder that affects metabolism of fatty acids caused by genetic defects in electron transfer (ETF) or flavoprotein dehydrogenase (ETFDH). We aimed to describe the pathological findings 15 week old foetus, born from consanguineous couple with 3 previous perinatal deaths. The last son died at 4 days life and analyses revealed novel probably pathogenic variant ETFDH (c.706dupG + c.706dupG) codifies for truncated protein...
Fatal familial insomnia (FFI) is a rare prionopathy with unusually high incidence in the Basque Country. We report detailed data on clinical, diagnostic, histopathological, and biochemical characteristics of recent FFI case series. The Brain Bank database was screened for patients diagnosed from 2010 to 2021 standard genetic and/or neuropathological criteria. This series includes 16 patients, 25% without family history, 12 cases 9 unrelated (but geographically-linked, country) kindreds,...