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Materias / palabras clave: Nervous system; Diseases.; Autosomal Dominant Cerebellar Ataxias.; Sistema nervioso.; Enfermedad.

Se realizó un estudio longitudinal descriptivo prospectivo no experimental en enfermos y portadores asintomáticos de Ataxia SCA2.

Materias / palabras clave: Biomechanics.; Nervous system; Diseases; Diagnosis.; Sistema nervioso.; Diagnóstico.

Presenta una caracterización clínico-epidemiológica de enfermos y descendientes con riesgo de ataxia espinocerebelosa tipo 2 en Cuba.

Se realizó un estudio transversal con el objetivo de caracterizar la relación existente entre factores genéticos y fisiológicos, y el fenotipo clínico en familias cubanas con Ataxia Espinocerebelosa tipo 2 (SCA2).

Materias / palabras clave: Ciencias médicas.; Bibliotecología.; Información.; Documentación.; Medical informatics; Cuba; Medical Informatics

Evalúa la integridad funcional del sistema nervioso autónomo cardiovascular.

Materias / palabras clave: alzheimer disease, ataxia, atrophy, behavior degenerative diseases, dementia, demyelinating diseases; Medicine: Internal medicine: Neurosciences. Biological psychiatry. Neuropsychiatry: Neurology. Diseases of the nervous...

Abstract Background Spinocerebellar ataxias comprise a group of neurodegenerative disorders characterized by progressive cerebellar ataxia with clinical and genetic heterogeneity. Autosomal recessive spinocerebellar atax...

Abstract Background Eight‐hydroxy‐2′‐deoxyguanosine (8‐OHdG), a biomarker of oxidative damage evaluated in human neurodegenerative disease, has potential to correlate with postmortem diagnosis of neuroaxonal dy...

Abstract Background Cerebellar ataxia (CA) is a neurodegenerative disorder characterized by progressive impairments in coordination, balance, and gait disturbances. Conventional rehabilitation therapies offer only limite...

BackgroundAtaxia-telangiectasia (A-T) is a rare autosomal recessive disorder caused by pathogenic variants in the ATM gene and characterized by genomic instability, immunodeficiency, and a markedly increased risk of canc...

Abstract Background Biallelic SPG7 mutations cause one of the most common forms of hereditary spastic paraplegia (HSP). Several reports have suggested that heterozygous SPG7 variants may also play a role in HSP, but also...

Dear EditorPhosphomannomutase-2 deficiency-congenital disorder of glycosylation (PMM2-CDG), congenital disorder of glycosylation type-Ia or Jaeken syndrome (MIM #601785) is an autosomal recessive inherited condition of a...

ObjectiveSensory gait ataxia is a core feature of chronic peripheral vestibular disorders, leading to impaired mobility, reduced quality of life, and increased fall risk. Quantitative gait metrics capturing this deficit ...

Abstract Background Thoracolumbar myelopathies associated with spinal cord and vertebral column lesions, with a similar clinical phenotype, but different underlying etiologies, occur in pugs. Objectives To further charac...

Abstract Background Equine neuroaxonal dystrophy/equine degenerative myeloencephalopathy (eNAD/EDM) is an inherited neurodegenerative disorder associated with vitamin E deficiency. In humans, polymorphisms in genes invol...

IntroductionThe T cell receptor excision circle (TREC) assay is an effective neonatal screening tool for severe combined immunodeficiency (SCID), enabling early diagnosis and timely intervention. While genetic analysis o...

ABSTRACT Lead is a heavy metal and an important cause of acute or chronic toxicosis in humans, domestic, and wild animals. This report aims to describe a case of chronic lead poisoning in a jaguar (Panthera onca) kept un...

Abstract Background Cervical spondylomyelopathy (CSM) occurs because of compression of the cervical spinal cord, nerve roots, or both, usually affecting young adult to older large and giant breed dogs. Juvenile dogs are ...

Dedicator of cytokinesis 8 (DOCK8) deficiency is a rare autosomal recessive combined immunodeficiency marked by severe atopy, recurrent viral and bacterial infections, high immunoglobulin E, eosinophilia, and lymphopenia...