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Hereditary lissencephaly and cerebellar hypoplasia in Churra lambs
BACKGROUND: Lissencephaly is a rare developmental brain disorder in veterinary and human medicine associated with defects in neuronal migration leading to a characteristic marked reduction or absence of the convolutional pattern of the cerebral hemispheres. In many human cases the disease has a gene...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3750509/ https://www.ncbi.nlm.nih.gov/pubmed/23938146 http://dx.doi.org/10.1186/1746-6148-9-156 |
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author | Pérez, Valentín Suárez-Vega, Aroa Fuertes, Miguel Benavides, Julio Delgado, Laetitia Ferreras, M Carmen Arranz, Juan José |
author_facet | Pérez, Valentín Suárez-Vega, Aroa Fuertes, Miguel Benavides, Julio Delgado, Laetitia Ferreras, M Carmen Arranz, Juan José |
author_sort | Pérez, Valentín |
collection | PubMed |
description | BACKGROUND: Lissencephaly is a rare developmental brain disorder in veterinary and human medicine associated with defects in neuronal migration leading to a characteristic marked reduction or absence of the convolutional pattern of the cerebral hemispheres. In many human cases the disease has a genetic basis. In sheep, brain malformations, mainly cerebellar hypoplasia and forms of hydrocephalus, are frequently due to in utero viral infections. Although breed-related malformations of the brain have been described in sheep, breed-related lissencephaly has not been previously recorded in a peer reviewed publication. RESULTS: Here we report neuropathological findings in 42 newborn lambs from a pure Churra breed flock, with clinical signs of weakness, inability to walk, difficulty in sucking and muscular rigidity observed immediately after birth. All the lambs showed near-total agyria with only a rudimentary formation of few sulci and gyri, and a severe cerebellar hypoplasia. On coronal section, the cerebral grey matter was markedly thicker than that of age-matched unaffected lambs and the ventricular system was moderately dilated. Histologically, the normal layers of the cerebral cortex were disorganized and, using an immunohistochemical technique against neurofilaments, three layers were identified instead of the six present in normal brains. The hippocampus was also markedly disorganised and the number and size of lobules were reduced in the cerebellum. Heterotopic neurons were present in different areas of the white matter. The remainder of the brain structures appeared normal. The pathological features reported are consistent with the type LCH-b (lissencephaly with cerebellar hypoplasia group b) defined in human medicine. No involvement of pestivirus or bluetongue virus was detected by immunohistochemistry. An analysis of pedigree data was consistent with a monogenic autosomal recessive pattern inheritance. CONCLUSIONS: The study describes the clinical and pathological findings of lissencephaly with cerebellar hypoplasia in Churra lambs for which an autosomal recessive inheritance was the most likely cause. Histopathological features observed in the cerebral cortex and hippocampus are consistent with a possible failure in neuronal migration during brain development. This report suggests that lissencephaly should be considered in the differential diagnosis of congenital neurological disease in newborn lambs showing weakness, inability to walk and difficulty sucking. |
format | Online Article Text |
id | pubmed-3750509 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-37505092013-08-24 Hereditary lissencephaly and cerebellar hypoplasia in Churra lambs Pérez, Valentín Suárez-Vega, Aroa Fuertes, Miguel Benavides, Julio Delgado, Laetitia Ferreras, M Carmen Arranz, Juan José BMC Vet Res Research Article BACKGROUND: Lissencephaly is a rare developmental brain disorder in veterinary and human medicine associated with defects in neuronal migration leading to a characteristic marked reduction or absence of the convolutional pattern of the cerebral hemispheres. In many human cases the disease has a genetic basis. In sheep, brain malformations, mainly cerebellar hypoplasia and forms of hydrocephalus, are frequently due to in utero viral infections. Although breed-related malformations of the brain have been described in sheep, breed-related lissencephaly has not been previously recorded in a peer reviewed publication. RESULTS: Here we report neuropathological findings in 42 newborn lambs from a pure Churra breed flock, with clinical signs of weakness, inability to walk, difficulty in sucking and muscular rigidity observed immediately after birth. All the lambs showed near-total agyria with only a rudimentary formation of few sulci and gyri, and a severe cerebellar hypoplasia. On coronal section, the cerebral grey matter was markedly thicker than that of age-matched unaffected lambs and the ventricular system was moderately dilated. Histologically, the normal layers of the cerebral cortex were disorganized and, using an immunohistochemical technique against neurofilaments, three layers were identified instead of the six present in normal brains. The hippocampus was also markedly disorganised and the number and size of lobules were reduced in the cerebellum. Heterotopic neurons were present in different areas of the white matter. The remainder of the brain structures appeared normal. The pathological features reported are consistent with the type LCH-b (lissencephaly with cerebellar hypoplasia group b) defined in human medicine. No involvement of pestivirus or bluetongue virus was detected by immunohistochemistry. An analysis of pedigree data was consistent with a monogenic autosomal recessive pattern inheritance. CONCLUSIONS: The study describes the clinical and pathological findings of lissencephaly with cerebellar hypoplasia in Churra lambs for which an autosomal recessive inheritance was the most likely cause. Histopathological features observed in the cerebral cortex and hippocampus are consistent with a possible failure in neuronal migration during brain development. This report suggests that lissencephaly should be considered in the differential diagnosis of congenital neurological disease in newborn lambs showing weakness, inability to walk and difficulty sucking. BioMed Central 2013-08-09 /pmc/articles/PMC3750509/ /pubmed/23938146 http://dx.doi.org/10.1186/1746-6148-9-156 Text en Copyright © 2013 Pérez et al.; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Research Article Pérez, Valentín Suárez-Vega, Aroa Fuertes, Miguel Benavides, Julio Delgado, Laetitia Ferreras, M Carmen Arranz, Juan José Hereditary lissencephaly and cerebellar hypoplasia in Churra lambs |
title | Hereditary lissencephaly and cerebellar hypoplasia in Churra lambs |
title_full | Hereditary lissencephaly and cerebellar hypoplasia in Churra lambs |
title_fullStr | Hereditary lissencephaly and cerebellar hypoplasia in Churra lambs |
title_full_unstemmed | Hereditary lissencephaly and cerebellar hypoplasia in Churra lambs |
title_short | Hereditary lissencephaly and cerebellar hypoplasia in Churra lambs |
title_sort | hereditary lissencephaly and cerebellar hypoplasia in churra lambs |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3750509/ https://www.ncbi.nlm.nih.gov/pubmed/23938146 http://dx.doi.org/10.1186/1746-6148-9-156 |
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