Spinal Muscular Atrophy in Blonde D'Aquitaine Calves Is Not Associated With FVT1 Gene Mutation.
cattle
genetic mutation
motor neuron diseases
neurodegenerative diseases
spinal muscular atrophy
Journal
Frontiers in veterinary science
ISSN: 2297-1769
Titre abrégé: Front Vet Sci
Pays: Switzerland
ID NLM: 101666658
Informations de publication
Date de publication:
2020
2020
Historique:
received:
06
04
2020
accepted:
19
05
2020
entrez:
28
7
2020
pubmed:
28
7
2020
medline:
28
7
2020
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 32714947
doi: 10.3389/fvets.2020.00348
pmc: PMC7344245
doi:
Types de publication
Case Reports
Langues
eng
Pagination
348Informations de copyright
Copyright © 2020 Cagnotti, Cantile, Chessa, Sacchi, D'Angelo and Bellino.
Références
Pediatr Clin North Am. 2015 Jun;62(3):743-66
pubmed: 26022173
J Vet Diagn Invest. 1993 Apr;5(2):303-6
pubmed: 8507715
J Neurol Neurosurg Psychiatry. 2005 Aug;76(8):1046-57
pubmed: 16024877
Vet Rec. 1994 Mar 5;134(10):232-5
pubmed: 8197680
Zentralbl Veterinarmed A. 1989 Dec;36(10):731-8
pubmed: 2515682
Neurol Clin. 2015 Nov;33(4):831-46
pubmed: 26515624
Dtsch Tierarztl Wochenschr. 1992 May;99(5):168-75
pubmed: 1638959
Acta Neuropathol. 1997 Feb;93(2):178-83
pubmed: 9039466
Pediatr Res. 2005 Mar;57(3):324-30
pubmed: 15635053
J Comp Pathol. 2003 Feb-Apr;128(2-3):132-9
pubmed: 12634090
Neuromuscul Disord. 2008 May;18(5):394-7
pubmed: 18395445
Mamm Genome. 2003 Jun;14(6):383-91
pubmed: 12879360
Mamm Genome. 2006 Jan;17(1):67-76
pubmed: 16416092
Neurotherapeutics. 2015 Apr;12(2):290-302
pubmed: 25413156
Brain. 2014 Nov;137(Pt 11):2879-96
pubmed: 24970098
Ann Neurol. 2019 Sep;86(3):458-462
pubmed: 31301241
Pediatr Neurol. 2012 Jan;46(1):1-12
pubmed: 22196485
Lancet Neurol. 2011 Mar;10(3):253-63
pubmed: 21349440
Proc Natl Acad Sci U S A. 2007 Apr 17;104(16):6746-51
pubmed: 17420465
Continuum (Minneap Minn). 2014 Oct;20(5 Peripheral Nervous System Disorders):1185-207
pubmed: 25299277
Schweiz Arch Tierheilkd. 1992;134(2):97-104
pubmed: 1566027
J Neurol Neurosurg Psychiatry. 2017 Jun;88(6):474-483
pubmed: 28003344
Genome Res. 2006 Sep;16(9):1084-90
pubmed: 16899656
J Neuropathol Exp Neurol. 1979 May;38(3):209-21
pubmed: 438862