Morphometric magnetic resonance imaging and genetic testing in cerebellar abiotrophy in Arabian horses

Cavalleri, Jessika‐M. V.; Metzger, Julia; Hellige, Maren; Lampe, V.; Stuckenschneider, Kathrin; Tipold, Andrea; Beineke, Andreas; Becker, Kathrin; Distl, O.; Feige, Karsten

doi:10.1186/1746-6148-9-105

Cited by 24 publications

(19 citation statements)

References 22 publications

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“…Equine neurological diseases have been well described, but not all conditions have been described on MR images. Magnetic resonance imaging features of congenital diseases, such as hydrocephalus, chiari‐like malformation, and cerebellar abiotrophy; traumatic diseases; intra‐axial diseases such as inflammatory/infectious, or neurodegenerative conditions; extra‐axial diseases including neoplastic, granulomatous, and infectious conditions; and diseases affecting the optic nerve have been described. To our knowledge, the MRI features of postanesthetic cerebral necrosis have not been reported, although postmortem findings have been documented including diffuse, acute necrosis with edema of the entire cerebral cortex .…”

Section: Discussionmentioning

confidence: 99%

Magnetic Resonance Imaging Characteristics of Equine Head Disorders: 84 Cases (2000–2013)

Manso‐Díaz

Dyson

Dennis

et al. 2014

Vet Radiology Ultrasound

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The equine head is an anatomically complex area, therefore advanced tomographic imaging techniques, such as computed tomography or magnetic resonance imaging (MRI), are often required for diagnosis and treatment planning. The purpose of this multicenter retrospective study was to describe MRI characteristics for a large sample of horses with head disorders. Horses imaged over a period of 13 years were recruited. Eighty-four horses met the inclusion criteria, having neurological (n = 65), sinonasal (n = 14), and soft tissue (n = 5) disorders. Magnetic resonance imaging accurately depicted the anatomy and allowed identification of the primary lesion and associated changes. There were good correlations between MRI findings and intraoperative or postmortem results. Magnetic resonance imaging showed the exact localization of the lesions, their size, and relation to surrounding structures. However, in the neurological group, there were 45 horses with no MRI abnormalities, 29 of which had a history of recurrent seizures, related to cryptogenic epilepsy. Magnetic resonance imaging was otherwise a valuable diagnostic tool, and can be used for studying a broad range of head disorders using either low-field or high-field magnets.

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Section: Discussionmentioning

confidence: 99%

Magnetic Resonance Imaging Characteristics of Equine Head Disorders: 84 Cases (2000–2013)

Manso‐Díaz

Dyson

Dennis

et al. 2014

Vet Radiology Ultrasound

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“…These signs are consistent with the histological hallmark of apoptosis of Purkinje neurons and subsequent disorganization of the three-layer cerebellar cortex structure (6). The loss of Purkinje neurons in CA has also been coupled with incomplete loss of granular neurons and a proliferation of Bergmann glia (7). The equine CA phenotype varies in degree of severity as well as time of onset, which can be between a few days to approximately six months after birth (8); no studies connecting the number of Purkinje neurons lost to severity or onset have been done.…”

Section: Introductionmentioning

confidence: 99%

Defining Trends in Global Gene Expression in Arabian Horses with Cerebellar Abiotrophy

et al. 2016

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Equine cerebellar abiotrophy (CA) is a hereditary neurodegenerative disease that affects the Purkinje neurons of the cerebellum and causes ataxia in Arabian foals. Signs of CA are typically first recognized either at birth to any time up to 6 months of age. CA is inherited as an autosomal recessive trait and is associated with a single nucleotide polymorphism (SNP) on equine chromosome 2 (13074277G>A), located in the fourth exon of TOE1 and in proximity to MUTYH on the antisense strand. We hypothesize that unraveling the functional consequences of the CA SNP using RNA-seq will elucidate the molecular pathways underlying the CA phenotype. RNA-seq (100 bp PE strand-specific) was performed in cerebellar tissue from four CA-affected and five age-matched unaffected horses. Three pipelines for differential gene expression (DE) analysis were used (Tophat2/Cuffdiff2, Kallisto/EdgeR and Kallisto/Sleuth) with 151 significant DE genes identified by all three pipelines in CA-affected horses. TOE1 (Log2(foldchange)=0.92, p=0.66) and MUTYH (Log2(foldchange)=1.13, p=0.66) were not differentially expressed. Among the major pathways that were differentially expressed, genes associated with calcium homeostasis and specifically expressed in Purkinje neurons, CALB1 (Log2(foldchange)= −1.7, p<0.01) and CA8 (Log2(foldchange)= −0.97, p<0.01), were significantly down-regulated, confirming loss of Purkinje neurons. There was also a significant up-regulation of markers for microglial phagocytosis, TYROBP (Log2(foldchange)= 1.99, p<0.01) and TREM2 (Log2(foldchange)= 2.02, p<0.01). These findings reaffirm a loss of Purkinje neurons in CA-affected horses along with a potential secondary loss of granular neurons and activation of microglial cells.

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“…High-field magnetic resonance imaging (MRI) becomes more readily available in equine veterinary medicine (Arencibia et al 2000, Gerlach and Gerhards 2008, Gerlach et al 2009, Garrett et al 2010, Cavalleri et al 2013. With the technical progress in MRI magnets with field strengths of 3 Tesla become available in equine veterinary medicine (Gutierrez-Crespo et al 2013, Hontoir et al 2013).…”

Section: Introductionmentioning

confidence: 99%

3 Tesla magnetic resonance imaging of the nasal cavities, paranasal sinuses and adjacent anatomical structures in 13 healthy horses

Kaminsky¹,

Bienert‐Zeit²,

Hellige³

et al. 2014

PHK

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Summary:The nasal cavities and paranasal sinuses of 13 healthy horses of different breeds aged 4 to 20 years were examined under general anaesthesia using 3 Tesla magnetic resonance imaging (MRI). Horses were positioned in dorsal recumbency. T2-weighted images were obtained in a transversal and dorsal orientation as well as T1-weighted images and proton density weighted images in a transversal orientation. Images were examined for the visualization of the nasal cavities, paranasal sinuses and adjacent anatomical structures. Differences and similarities in the appearance of the anatomical structures in the different MRI sequences as well as inter-and intraindividual differences and similarities were documented. In four selected planes of the transversal oriented T2-weighted images the thickness of the venous plexus of the nasal mucosa of the left and right side could be measured in 12 horses. Planes and measurement points were chosen by defined anatomical landmarks. Visualized anatomical structures were well delineated in 3 Tesla magnetic resonance images. Inter-and intraindividual differences were present in the appearance of the nasal septum, the venous plexus of the nasal mucosa, the infraorbital canal and other structures in the examined healthy horses. The thickness of the venous plexus of the nasal mucosa was measured with up to 25.5 mm lining the spiral lamella of the ventral concha and the nasal meatus were entirely occluded by the nasal mucosa in some horses. Knowledge of the physiological appearance of anatomical structures in 3 Tesla MRI is fundamental in the use of this imaging modality as a diagnostic instrument. Interindividual differences in the appearance of anatomical structures are present in healthy horses and therefore not to be interpreted as pathologies in clinical cases.Keywords: MRI / horse / paranasal sinuses / nasal mucosa / upper airways / 3 Tesla Darstellung der Nasenhöhlen, Nasennebenhöhlen und angrenzender anatomischer Strukturen im 3 Tesla-Magnetresonanztomographen bei 13 gesunden Pferden Die Nasen-und Nasenebenhöhlen von 13 gesunden Pferden unterschiedlicher Rasse im Alter von 4 bis 20 Jahren wurden in Allgemeinanästhesie mit einem Magnetresonanztomographen der Feldstärke 3 Tesla untersucht. Die Pferde wurden in Rückenlage positioniert. Es wurden transversal und dorsal ausgerichtete Aufnahmen in einer T2-Gewichtung sowie transversal ausgerichtete Aufnahmen in einer T1-und einer Protonengewichtung erstellt. Die Bilder wurden systematisch betrachtet und ausgewertet. Im Rahmen der Auswertung wurde besonders auf die Darstellung der anatomischen Strukturen im Bereich der Nasen-und Nasennebenhöhlen geachtet. Im Zuge der Betrachtung wurde die Darstellung der verschiedenen anatomischen Strukturen in den unterschiedlichen Aufnahmesequenzen beurteilt und Ähn-lichkeiten und Unterschiede zwischen den Sequenzen dokumentiert. Auch inter-und intraindividuelle Unterschiede und Übereinstimmungen wurden dokumentiert. In vier ausgewählten Schnittebenen der transversal orientierten T2-gewichteten Sequ...

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Morphometric magnetic resonance imaging and genetic testing in cerebellar abiotrophy in Arabian horses

Cited by 24 publications

References 22 publications

Magnetic Resonance Imaging Characteristics of Equine Head Disorders: 84 Cases (2000–2013)

Magnetic Resonance Imaging Characteristics of Equine Head Disorders: 84 Cases (2000–2013)

Defining Trends in Global Gene Expression in Arabian Horses with Cerebellar Abiotrophy

3 Tesla magnetic resonance imaging of the nasal cavities, paranasal sinuses and adjacent anatomical structures in 13 healthy horses

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