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6 results on '"Priestnall, S.L."'

1. Canine NAPEPLD-associated models of human myelin disorders

Author

Minor, K M, Letko, A., Becker, D., Drögemüller, M, Mandigers, P J J, Bellekom, S.R., Leegwater, P A J, Stassen, Q E M, Putschbach, K., Fischer, A., Flegel, T., Matiasek, Kaspar, Ekenstedt, K J, Furrow, E., Patterson, Edward E, Platt, S.R., Kelly, P.A., Cassidy, J P, Shelton, G Diane, Lucot, K, Bannasch, D.L., Martineau, H., Muir, C F, Priestnall, S.L., Henke, D, Oevermann, A, Jagannathan, V., Mickelson, J.R., Drögemüller, C., Minor, K M, Letko, A., Becker, D., Drögemüller, M, Mandigers, P J J, Bellekom, S.R., Leegwater, P A J, Stassen, Q E M, Putschbach, K., Fischer, A., Flegel, T., Matiasek, Kaspar, Ekenstedt, K J, Furrow, E., Patterson, Edward E, Platt, S.R., Kelly, P.A., Cassidy, J P, Shelton, G Diane, Lucot, K, Bannasch, D.L., Martineau, H., Muir, C F, Priestnall, S.L., Henke, D, Oevermann, A, Jagannathan, V., Mickelson, J.R., and Drögemüller, C.

Abstract

Canine leukoencephalomyelopathy (LEMP) is a juvenile-onset neurodegenerative disorder of the CNS white matter currently described in Rottweiler and Leonberger dogs. Genome-wide association study (GWAS) allowed us to map LEMP in a Leonberger cohort to dog chromosome 18. Subsequent whole genome re-sequencing of a Leonberger case enabled the identification of a single private homozygous non-synonymous missense variant located in the highly conserved metallo-beta-lactamase domain of the N-acyl phosphatidylethanolamine phospholipase D (NAPEPLD) gene, encoding an enzyme of the endocannabinoid system. We then sequenced this gene in LEMP-affected Rottweilers and identified a different frameshift variant, which is predicted to replace the C-terminal metallo-beta-lactamase domain of the wild type protein. Haplotype analysis of SNP array genotypes revealed that the frameshift variant was present in diverse haplotypes in Rottweilers, and also in Great Danes, indicating an old origin of this second NAPEPLD variant. The identification of different NAPEPLD variants in dog breeds affected by leukoencephalopathies with heterogeneous pathological features, implicates the NAPEPLD enzyme as important in myelin homeostasis, and suggests a novel candidate gene for myelination disorders in people.

Published
2018

2. Canine NAPEPLD-associated models of human myelin disorders

Author

Sub Neurologie, dCSCA AVR, dCSCA RMSC-1, Onderzoek, Minor, K M, Letko, A., Becker, D., Drögemüller, M, Mandigers, P J J, Bellekom, S.R., Leegwater, P A J, Stassen, Q E M, Putschbach, K., Fischer, A., Flegel, T., Matiasek, Kaspar, Ekenstedt, K J, Furrow, E., Patterson, Edward E, Platt, S.R., Kelly, P.A., Cassidy, J P, Shelton, G Diane, Lucot, K, Bannasch, D.L., Martineau, H., Muir, C F, Priestnall, S.L., Henke, D, Oevermann, A, Jagannathan, V., Mickelson, J.R., Drögemüller, C., Sub Neurologie, dCSCA AVR, dCSCA RMSC-1, Onderzoek, Minor, K M, Letko, A., Becker, D., Drögemüller, M, Mandigers, P J J, Bellekom, S.R., Leegwater, P A J, Stassen, Q E M, Putschbach, K., Fischer, A., Flegel, T., Matiasek, Kaspar, Ekenstedt, K J, Furrow, E., Patterson, Edward E, Platt, S.R., Kelly, P.A., Cassidy, J P, Shelton, G Diane, Lucot, K, Bannasch, D.L., Martineau, H., Muir, C F, Priestnall, S.L., Henke, D, Oevermann, A, Jagannathan, V., Mickelson, J.R., and Drögemüller, C.

Published
2018

3. Canine NAPEPLD-associated models of human myelin disorders

Author

Sub Neurologie, dCSCA AVR, dCSCA RMSC-1, Onderzoek, Minor, K M, Letko, A., Becker, D., Drögemüller, M, Mandigers, P J J, Bellekom, S.R., Leegwater, P A J, Stassen, Q E M, Putschbach, K., Fischer, A., Flegel, T., Matiasek, Kaspar, Ekenstedt, K J, Furrow, E., Patterson, Edward E, Platt, S.R., Kelly, P.A., Cassidy, J P, Shelton, G Diane, Lucot, K, Bannasch, D.L., Martineau, H., Muir, C F, Priestnall, S.L., Henke, D, Oevermann, A, Jagannathan, V., Mickelson, J.R., Drögemüller, C., Sub Neurologie, dCSCA AVR, dCSCA RMSC-1, Onderzoek, Minor, K M, Letko, A., Becker, D., Drögemüller, M, Mandigers, P J J, Bellekom, S.R., Leegwater, P A J, Stassen, Q E M, Putschbach, K., Fischer, A., Flegel, T., Matiasek, Kaspar, Ekenstedt, K J, Furrow, E., Patterson, Edward E, Platt, S.R., Kelly, P.A., Cassidy, J P, Shelton, G Diane, Lucot, K, Bannasch, D.L., Martineau, H., Muir, C F, Priestnall, S.L., Henke, D, Oevermann, A, Jagannathan, V., Mickelson, J.R., and Drögemüller, C.

Published
2018

4. Canine NAPEPLD-associated models of human myelin disorders

Author

Sub Neurologie, dCSCA AVR, dCSCA RMSC-1, Onderzoek, Minor, K M, Letko, A., Becker, D., Drögemüller, M, Mandigers, P J J, Bellekom, S.R., Leegwater, P A J, Stassen, Q E M, Putschbach, K., Fischer, A., Flegel, T., Matiasek, Kaspar, Ekenstedt, K J, Furrow, E., Patterson, Edward E, Platt, S.R., Kelly, P.A., Cassidy, J P, Shelton, G Diane, Lucot, K, Bannasch, D.L., Martineau, H., Muir, C F, Priestnall, S.L., Henke, D, Oevermann, A, Jagannathan, V., Mickelson, J.R., Drögemüller, C., Sub Neurologie, dCSCA AVR, dCSCA RMSC-1, Onderzoek, Minor, K M, Letko, A., Becker, D., Drögemüller, M, Mandigers, P J J, Bellekom, S.R., Leegwater, P A J, Stassen, Q E M, Putschbach, K., Fischer, A., Flegel, T., Matiasek, Kaspar, Ekenstedt, K J, Furrow, E., Patterson, Edward E, Platt, S.R., Kelly, P.A., Cassidy, J P, Shelton, G Diane, Lucot, K, Bannasch, D.L., Martineau, H., Muir, C F, Priestnall, S.L., Henke, D, Oevermann, A, Jagannathan, V., Mickelson, J.R., and Drögemüller, C.

Published
2018

5. Unique topographic distribution of greyhound nonsuppurative meningoencephalitis

Author

Terzo, E., McConnell, J.F., Shiel, R.E., McAllister, H., Behr, S., Priestnall, S.L., Smith, K.C., Nolan, C.M., Callanan, J.J., Terzo, E., McConnell, J.F., Shiel, R.E., McAllister, H., Behr, S., Priestnall, S.L., Smith, K.C., Nolan, C.M., and Callanan, J.J.

Abstract

Greyhound nonsuppurative meningoencephalitis is an idiopathic breed-associated fatal meningoencephalitis with lesions usually occurring within the rostral cerebrum. This disorder can only be confirmed by postmortem examination, with a diagnosis based upon the unique topography of inflammatory lesions. Our purpose was to describe the magnetic resonance (MR) imaging features of this disease. Four Greyhounds with confirmed Greyhound nonsuppurative meningoencephalitis were evaluated by MR imaging. Lesions predominantly affected the olfactory lobes and bulbs, frontal, and frontotemporal cortical gray matter, and caudate nuclei bilaterally. Fluid attenuation inversion recovery (FLAIR) and T2 weighted spin-echo (T2W) sequences were most useful to assess the nature, severity, extension, and topographic pattern of lesions. Lesions were predominantly T2-hyperintense and T1-isointense with minimal or absent contrast enhancement.

Published
2012

6. Unique topographic distribution of greyhound nonsuppurative meningoencephalitis

Author

Terzo, E., McConnell, J.F., Shiel, R.E., McAllister, H., Behr, S., Priestnall, S.L., Smith, K.C., Nolan, C.M., Callanan, J.J., Terzo, E., McConnell, J.F., Shiel, R.E., McAllister, H., Behr, S., Priestnall, S.L., Smith, K.C., Nolan, C.M., and Callanan, J.J.

Abstract

Greyhound nonsuppurative meningoencephalitis is an idiopathic breed-associated fatal meningoencephalitis with lesions usually occurring within the rostral cerebrum. This disorder can only be confirmed by postmortem examination, with a diagnosis based upon the unique topography of inflammatory lesions. Our purpose was to describe the magnetic resonance (MR) imaging features of this disease. Four Greyhounds with confirmed Greyhound nonsuppurative meningoencephalitis were evaluated by MR imaging. Lesions predominantly affected the olfactory lobes and bulbs, frontal, and frontotemporal cortical gray matter, and caudate nuclei bilaterally. Fluid attenuation inversion recovery (FLAIR) and T2 weighted spin-echo (T2W) sequences were most useful to assess the nature, severity, extension, and topographic pattern of lesions. Lesions were predominantly T2-hyperintense and T1-isointense with minimal or absent contrast enhancement.

Published
2012

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