دورية أكاديمية
Clinicopathological and pedigree investigation of a novel spinocerebellar neurological disease in juvenile Quarter Horses in North America
العنوان: | Clinicopathological and pedigree investigation of a novel spinocerebellar neurological disease in juvenile Quarter Horses in North America |
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المؤلفون: | Andrew T. Willis, Anna R. Dahlgren, Kevin D. Woolard, Sharmila Ghosh, Callum G. Donnelly, Andres de laConcha‐Bermejillo, Ana Pacheco, Katherine D. Watson, Emily Berryhill, Monica Aleman, Fiona Wensley, Sarah Humphreys, Ashley E. Whitehead, Dayna Goldsmith, Berkley Chesen, John Ragsdale, James E. Tompkins, Ron Nash, Amanda H. Plunkett, Heath J. Qualls, Katarina Rodriguez, Damaris Hochanadel, Andrew D. Miller, Carrie J. Finno |
المصدر: | Journal of Veterinary Internal Medicine, Vol 38, Iss 3, Pp 1808-1814 (2024) |
بيانات النشر: | Wiley, 2024. |
سنة النشر: | 2024 |
المجموعة: | LCC:Veterinary medicine |
مصطلحات موضوعية: | ataxia, inherited, neurodegeneration, spinal cord, Veterinary medicine, SF600-1100 |
الوصف: | Abstract Background In 2020, a novel neurologic disease was observed in juvenile Quarter Horses (QHs) in North America. It was unknown if this was an aberrant manifestation of another previously described neurological disorder in foals, such as equine neuroaxonal dystrophy/equine degenerative myeloencephalopathy (eNAD/EDM). Hypothesis/Objectives To describe the clinical findings, outcomes, and postmortem changes with Equine Juvenile Spinocerebellar Ataxia (EJSCA), differentiate the disease from other similar neurological disorders, and determine a mode of inheritance. Animals Twelve neurologically affected QH foals and the dams. Methods Genomic DNA was isolated and pedigrees were manually constructed. Results All foals (n = 12/12) had a history of acute onset of neurological deficits with no history of trauma. Neurological deficits were characterized by asymmetrical spinal ataxia, with pelvic limbs more severely affected than thoracic limbs. Clinicopathological abnormalities included high serum activity of gamma‐glutamyl transferase and hyperglycemia. All foals became recumbent (median, 3 days: [0–18 days]), which necessitated humane euthanasia (n = 11/12, 92%; the remaining case was found dead). Histological evaluation at postmortem revealed dilated myelin sheaths and digestion chambers within the spinal cord, most prominently in the dorsal spinocerebellar tracts. Pedigree analysis revealed a likely autosomal recessive mode of inheritance. Conclusions and Clinical Importance EJSCA is a uniformly fatal, rapidly progressive, likely autosomal recessive neurological disease of QHs |
نوع الوثيقة: | article |
وصف الملف: | electronic resource |
اللغة: | English |
تدمد: | 1939-1676 0891-6640 |
Relation: | https://doaj.org/toc/0891-6640; https://doaj.org/toc/1939-1676 |
DOI: | 10.1111/jvim.17049 |
URL الوصول: | https://doaj.org/article/179656e52ca543f49e7aad35f72282c6 |
رقم الأكسشن: | edsdoj.179656e52ca543f49e7aad35f72282c6 |
قاعدة البيانات: | Directory of Open Access Journals |
تدمد: | 19391676 08916640 |
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DOI: | 10.1111/jvim.17049 |