Congenital cerebellar hypoplasia in newborn calves.

Natl Inst Anim Health Q (Tokyo)

Published: October 1980

A sporadic outbreak of congential cerebellar ataxia (CCA) was seen in calves. The abnormality of this disorder of the central nervous system characteristic was cerebellar hypoplasia, which was observed in eight calves. The cerebellum was almost completely absent in some of these calves and approximately one-fifth of the normal size in some others. Six of the eight calves were also affected with hydrocephaly. The significant changes of the cerebellum were complete or partial destruction of the cortex, deficiency of granules and/or Purkinje cells, clumping of the remaining granule cells, and an irregular cavity formation in the terminal portion of the folium. The clinicopathological changes of CCA quite closely resembled those of the bovine viral diarrhea-mucosal disease virus infection.

Download full-text PDF

Source

Publication Analysis

Top Keywords

cerebellar hypoplasia
8
calves
5
congenital cerebellar
4
hypoplasia newborn
4
newborn calves
4
calves sporadic
4
sporadic outbreak
4
outbreak congential
4
congential cerebellar
4
cerebellar ataxia
4

Similar Publications

This case report presents a late preterm infant diagnosed with severe cerebellar hypoplasia and microcephaly secondary to congenital cytomegalovirus (cCMV) infection. Initially suspected to have Dandy-Walker malformation, postnatal MRI revealed significant cerebellar hypoplasia, without other typical cCMV findings. The diagnosis was confirmed by the presence of CMV in serum and urine.

View Article and Find Full Text PDF

EEFSEC deficiency: A selenopathy with early-onset neurodegeneration.

Am J Hum Genet

January 2025

Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany; Center for Rare Disease, University of Tübingen, 72076 Tübingen, Germany; Genomics for Health in Africa (GHA), Africa-Europe Cluster of Research Excellence (CoRE).

Inborn errors of selenoprotein expression arise from deleterious variants in genes encoding selenoproteins or selenoprotein biosynthetic factors, some of which are associated with neurodegenerative disorders. This study shows that bi-allelic selenocysteine tRNA-specific eukaryotic elongation factor (EEFSEC) variants cause selenoprotein deficiency, leading to progressive neurodegeneration. EEFSEC deficiency, an autosomal recessive disorder, manifests with global developmental delay, progressive spasticity, ataxia, and seizures.

View Article and Find Full Text PDF

A 13-month-old boy presented to the pediatric ophthalmology clinic at BC Children's Hospital for strabismus assessment. On examination he had a right facial hemangioma, left ptosis, and left exotropia and hypotropia. Magnetic resonance imaging and magnetic resonance angiography of his head demonstrated posterior cerebral artery tortuosity producing mild mass effect on the left oculomotor nerve.

View Article and Find Full Text PDF

Brain-derived neurotrophic factor (BDNF) plays important roles in brain development and neural function. Constitutive knockout of the splicing regulator RBM4 reduces BDNF expression in the developing brain and causes cerebellar hypoplasia, an autism-like feature. Here, we show that Rbm4 knockout induced intron 6 retention of Hsf1, leading to downregulation of HSF1 protein and its downstream target BDNF.

View Article and Find Full Text PDF

Loss-of-function of DDR1 is responsible for a chondrodysplasia with multiple dislocations.

J Bone Miner Res

December 2024

Paris Cité University, Reference center for skeletal dysplasia, INSERM UMR 1163, Imagine Institute, Necker Enfants Malades Hospital (AP-HP), Paris, France.

Chondrodysplasias with multiple dislocations are rare skeletal disorders characterized by hyperlaxity, joint dislocations, and growth retardation. Chondrodysplasias with multiple dislocations have been linked to pathogenic variants in genes encoding proteins involved in the proteoglycan biosynthesis. In this study, by exome sequencing analysis, we identified a homozygous nonsense variant (NM_001297654.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!