Equine neuronal ceroid lipofuscinosis

A. Url, B. Bauder, J. Thalhammer, N. Nowotny, J. Kolodziejek, N. Herout, S. Fürst, H. Weissenböck

Research output: Contribution to journalArticle

32 Citations (Scopus)

Abstract

Neuronal ceroid lipofuscinosis (NCL) is an inherited, neurodegenerative disorder with fatal outcome in humans. It has also been described in some animal species; this is the first report of NCL in equines. Three horses showed developmental retardation, slow movements and loss of appetite at the age of six months. Neurological symptoms, as well as visual failure in one case, were noticed at the age of 1 year. Due to slowly progressing deterioration, euthanasia was indicated 1.5 years after onset of conspicuous behavior. At necropsy, slight flattening of the gyri and discoloring of the brain was noticed. Histopathology revealed eosinophilic, autofluorescent material in the perikarya of neurons throughout the brain and spinal cord. Identical material was found in neurons of retina, submucous and myenteric ganglia, as well as in glial cells. Immunohistochemistry, using antiserum against subunit c of mitochondrial ATP synthase, showed positive signals in neurons and glial cells. Electron microscopical studies revealed fingerprint profiles mixed with rectilinear structures in markedly enlarged lysosomes of neurons and renal tubules, and rectilinear structures mixed with curvilinear bodies in macrophages and lymphocytes of lymph nodes. Thus, our study presents the first occurrence of lysosomal storage disease in horses, further characterized by immunohistochemical and electron microscopical investigations as NCL.

Original languageEnglish
Pages (from-to)410-414
Number of pages5
JournalActa Neuropathologica
Volume101
Issue number4
Publication statusPublished - 2001

Fingerprint

Neuronal Ceroid-Lipofuscinoses
Horses
Neurons
Neuroglia
Mitochondrial Proton-Translocating ATPases
Electrons
Lysosomal Storage Diseases
Fatal Outcome
Euthanasia
Brain
Dermatoglyphics
Appetite
Lysosomes
Ganglia
Neurodegenerative Diseases
Retina
Immune Sera
Spinal Cord
Lymph Nodes
Immunohistochemistry

Keywords

  • Horse
  • Neuronal ceroid lipofuscinosis
  • Subunit c

ASJC Scopus subject areas

  • Clinical Neurology
  • Pathology and Forensic Medicine
  • Neuroscience(all)

Cite this

Url, A., Bauder, B., Thalhammer, J., Nowotny, N., Kolodziejek, J., Herout, N., ... Weissenböck, H. (2001). Equine neuronal ceroid lipofuscinosis. Acta Neuropathologica, 101(4), 410-414.

Equine neuronal ceroid lipofuscinosis. / Url, A.; Bauder, B.; Thalhammer, J.; Nowotny, N.; Kolodziejek, J.; Herout, N.; Fürst, S.; Weissenböck, H.

In: Acta Neuropathologica, Vol. 101, No. 4, 2001, p. 410-414.

Research output: Contribution to journalArticle

Url, A, Bauder, B, Thalhammer, J, Nowotny, N, Kolodziejek, J, Herout, N, Fürst, S & Weissenböck, H 2001, 'Equine neuronal ceroid lipofuscinosis', Acta Neuropathologica, vol. 101, no. 4, pp. 410-414.
Url A, Bauder B, Thalhammer J, Nowotny N, Kolodziejek J, Herout N et al. Equine neuronal ceroid lipofuscinosis. Acta Neuropathologica. 2001;101(4):410-414.
Url, A. ; Bauder, B. ; Thalhammer, J. ; Nowotny, N. ; Kolodziejek, J. ; Herout, N. ; Fürst, S. ; Weissenböck, H. / Equine neuronal ceroid lipofuscinosis. In: Acta Neuropathologica. 2001 ; Vol. 101, No. 4. pp. 410-414.
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