Buscar recursos académicos

Se describen las lesiones histo patológicas correspondientes a casos de ovinos con procesos de ataxia, consistentes en cromatolisis de las neuronas y procesos avanzados de desmielinización. Las zonas del SNC más afect...

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...

We present the case of a lady in her early 20s who developed over a few weeks progressive appendicular and limb ataxia and dysarthria. She was found to have a high titer of voltage-gated calcium channel antibodies (VGCCA...

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 Equine herpesvirus myeloencephalopathy (EHM) has severe impact on the sport horse population. Objective Study the influence of EHM on the likelihood of affected horses to return to their previous perf...

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 Acquired cervical scoliosis previously has been reported in dogs as a clinical sign associated with Chiari‐like malformation and syringomyelia but has not been described with inflammatory central nervous syste...

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 ...

Abstract Background Bacterial meningitis (BM) and meningoencephalitis (BMEM) are associated with high case fatality rates and neurologic sequelae in people, but limited data exists on outcome in dogs. Hypothesis/Objectiv...

Abstract Background Understanding of equine herpesvirus‐1 (EHV‐1) myeloencephalopathy (EHM) is complicated by disparities among studies. Objective Compare clinical findings and outcome in horses involved in 2 recent ...

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...

Abstract Background Laryngeal paralysis commonly affects older Labrador retrievers. Currently, dogs with severe disease require surgical intervention, most commonly arytenoid lateralization. Anecdotally, doxepin has been...

Benzodiazepines are the most widely prescribed class of psychoactive drugs in current therapeutic use, despite the important unwanted side effects that they produce, such as sedation, myorelaxation, ataxia, amnesia, and ...

Abstract Granuloprival degeneration is an uncommon form of cerebellar cortical degeneration (CCD). A 3‐month‐old Yorkshire Terrier and a 7‐month‐old Lagotto Romagnolo dog were presented with a history of progress...

The aim of this study is to investigate the folding reaction of human frataxin, whose deficiency causes the neurodegenerative disease Friedreich’s Ataxia (FRDA). The characterization of different conformational states ...

Background The role of human lineage mutations (HLMs) in human evolution through post-transcriptional modification is unclear.Aims To investigate the contribution of HLMs to human evolution through post-transcriptional m...