Cerebellar abiotrophy in an Icelandic horse
Abstract Background Cerebellar abiotrophy (CA) is an uncommon hereditary neurodegenerative disorder affecting the cerebellar Purkinje cells. Equine CA has been reported in several breeds, but a genetic etiology has only been confirmed in the Arabian breed, where CA is caused by an autosomal recessiv...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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BMC
2022-11-01
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| Series: | Acta Veterinaria Scandinavica |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13028-022-00651-0 |
| _version_ | 1828119827203489792 |
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| author | Sanni Hansen Emil Olsen Marie Raundal Jørgen Steen Agerholm |
| author_facet | Sanni Hansen Emil Olsen Marie Raundal Jørgen Steen Agerholm |
| author_sort | Sanni Hansen |
| collection | DOAJ |
| description | Abstract Background Cerebellar abiotrophy (CA) is an uncommon hereditary neurodegenerative disorder affecting the cerebellar Purkinje cells. Equine CA has been reported in several breeds, but a genetic etiology has only been confirmed in the Arabian breed, where CA is caused by an autosomal recessive mutation. Case presentation. Clinical and histological findings consistent with CA are reported in an 8.5-month-old Icelandic filly. The filly showed a perceived sudden onset of marked head tremor, incoordination, ataxia, lack of menace response and a broad-based stance. Cerebrospinal fluid, hematological and biochemical findings were all within the normal range, ruling out several differential diagnoses. Post mortem histopathological examination revealed Purkinje cell degeneration accompanied by astrogliosis. Assessment of the filly’s pedigree revealed that its parents shared a common ancestor. Conclusions To the authors’ knowledge, this is the first report of CA in the Icelandic breed. The identification of a common parental ancestor makes autosomal recessive inheritance of CA in this filly possible, but this would need to be confirmed by further studies. Veterinarians and breeders working with Icelandic horses should be aware of this condition and report suspected cases in order to support genetic investigation. |
| first_indexed | 2024-04-11T13:54:18Z |
| format | Article |
| id | doaj.art-d3e9044372f14d83a3702e9c8f3df50b |
| institution | Directory Open Access Journal |
| issn | 1751-0147 |
| language | English |
| last_indexed | 2024-04-11T13:54:18Z |
| publishDate | 2022-11-01 |
| publisher | BMC |
| record_format | Article |
| series | Acta Veterinaria Scandinavica |
| spelling | doaj.art-d3e9044372f14d83a3702e9c8f3df50b2022-12-22T04:20:25ZengBMCActa Veterinaria Scandinavica1751-01472022-11-016411510.1186/s13028-022-00651-0Cerebellar abiotrophy in an Icelandic horseSanni Hansen0Emil Olsen1Marie Raundal2Jørgen Steen Agerholm3Department of Veterinary Clinical Sciences, Faculty of Health and Medical Sciences, University of CopenhagenUniversity Animal Hospital, Swedish University of Agricultural Sciences (SLU)Raundal Equine PracticeDepartment of Veterinary Clinical Sciences, Faculty of Health and Medical Sciences, University of CopenhagenAbstract Background Cerebellar abiotrophy (CA) is an uncommon hereditary neurodegenerative disorder affecting the cerebellar Purkinje cells. Equine CA has been reported in several breeds, but a genetic etiology has only been confirmed in the Arabian breed, where CA is caused by an autosomal recessive mutation. Case presentation. Clinical and histological findings consistent with CA are reported in an 8.5-month-old Icelandic filly. The filly showed a perceived sudden onset of marked head tremor, incoordination, ataxia, lack of menace response and a broad-based stance. Cerebrospinal fluid, hematological and biochemical findings were all within the normal range, ruling out several differential diagnoses. Post mortem histopathological examination revealed Purkinje cell degeneration accompanied by astrogliosis. Assessment of the filly’s pedigree revealed that its parents shared a common ancestor. Conclusions To the authors’ knowledge, this is the first report of CA in the Icelandic breed. The identification of a common parental ancestor makes autosomal recessive inheritance of CA in this filly possible, but this would need to be confirmed by further studies. Veterinarians and breeders working with Icelandic horses should be aware of this condition and report suspected cases in order to support genetic investigation.https://doi.org/10.1186/s13028-022-00651-0AbiotrophyAtaxiaCerebellumCongenitalEquineGenetic |
| spellingShingle | Sanni Hansen Emil Olsen Marie Raundal Jørgen Steen Agerholm Cerebellar abiotrophy in an Icelandic horse Acta Veterinaria Scandinavica Abiotrophy Ataxia Cerebellum Congenital Equine Genetic |
| title | Cerebellar abiotrophy in an Icelandic horse |
| title_full | Cerebellar abiotrophy in an Icelandic horse |
| title_fullStr | Cerebellar abiotrophy in an Icelandic horse |
| title_full_unstemmed | Cerebellar abiotrophy in an Icelandic horse |
| title_short | Cerebellar abiotrophy in an Icelandic horse |
| title_sort | cerebellar abiotrophy in an icelandic horse |
| topic | Abiotrophy Ataxia Cerebellum Congenital Equine Genetic |
| url | https://doi.org/10.1186/s13028-022-00651-0 |
| work_keys_str_mv | AT sannihansen cerebellarabiotrophyinanicelandichorse AT emilolsen cerebellarabiotrophyinanicelandichorse AT marieraundal cerebellarabiotrophyinanicelandichorse AT jørgensteenagerholm cerebellarabiotrophyinanicelandichorse |