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Spinal Muscular Atrophy in Blonde D'Aquitaine Calves Is Not Associated With FVT1 Gene Mutation
- Source :
- Frontiers in Veterinary Science, Vol 7 (2020), Frontiers in Veterinary Science
- Publication Year :
- 2020
- Publisher :
- Frontiers Media SA, 2020.
-
Abstract
- Spinal muscular atrophy (SMA) is a motor neuron disease (MND) in humans and diverse animal species: canid, felid, and bovid. To date, bovine SMA has been reported in Brown Swiss, Holstein, Friesian, and Red Danish breed; it has been associated with a genetic mutation of the FVT1 gene, also known as 3-ketodihydrosphingosine reductase (KDSR). The aim of the present case series was to describe clinical presentation, pathological findings, and genetic analysis of five Blond d'Aquitaine calves diagnosed with SMA and to determine whether the mutation was associated with the disease. Five Blonde d'Aquitaine calves (three females and two males) from the same cow-calf operation farm were presented between June 2018 and February 2019 because unable to stand or walk unassisted since birth. Neurological examination aroused suspicion of a diffuse lesion affecting the peripheral nervous system in all calves. Findings from electromyographic investigations and muscle and nerve biopsies were consistent with a non-regenerative, chronic, active axonal neuropathy and marked neurogenic muscular atrophy and assumed to be associated with a neurodegenerative process. Histopathological examination of tissue samples from two animals revealed neuronal loss and several degenerated, shrunken, and hypereosinophilic neurons at the level of the ventral horn of the cervico-thoracic and the lumbo-sacral intumescence, diffuse loss of myelinated axons at the level of the ventral funiculi of all segments of the spinal cord, and moderate diffuse astrocytic reaction. These findings confirmed the diagnosis of SMA. No mutation of the FVT1 gene was found on genetic analysis. Further study into the causative gene mutation of SMA in Blonde D'Aquitaine calves is under way. Identification of a novel genetic mutation could improve our understanding of the disease in human medicine.
- Subjects :
- Pathology
medicine.medical_specialty
motor neuron diseases
040301 veterinary sciences
Case Report
Neurological examination
Gene mutation
medicine.disease_cause
0403 veterinary science
03 medical and health sciences
cattle, neurodegenerative diseases, motor neuron diseases, spinal muscular atrophy, genetic mutation
medicine
neurodegenerative diseases
spinal muscular atrophy
030304 developmental biology
0303 health sciences
Mutation
lcsh:Veterinary medicine
General Veterinary
medicine.diagnostic_test
business.industry
04 agricultural and veterinary sciences
Spinal muscular atrophy
Motor neuron
medicine.disease
Spinal cord
SMA
medicine.anatomical_structure
cattle
genetic mutation
Peripheral nervous system
lcsh:SF600-1100
Veterinary Science
business
Subjects
Details
- ISSN :
- 22971769
- Volume :
- 7
- Database :
- OpenAIRE
- Journal :
- Frontiers in Veterinary Science
- Accession number :
- edsair.doi.dedup.....ce4fc0060a103ad9835bace6ddd44d19