Purkinje cell neuroaxonal dystrophy similar to nervous mutant mice phenotype in two sibling kittens.
Three 4-month-old kittens from the same litter were presented, two of which were exhibiting cerebellar signs. Euthanasia was requested. No cerebellum atrophy was disclosed on necropsy. General cerebellar anatomy was normal, including the thickness of the cortical layers, myelination, and neurons of the deep cerebellar nuclei. In the ataxic cat vermis, Purkinje cells were lacking along broad parasagittal bands symmetrically disposed relative to the midline. Many Purkinje cells were also lacking in the hemispheres. The nodulus and the flocculus were normal. Surviving Purkinje cells had frequent main dendrite swellings visible with anti-calbindin and anti-microtubule associated protein. In affected regions, calbindin and phosphorylated neurofilaments immunesera stained numerous axonal torpedoes located in the granular layer and the folial white matter. They were also present in processes of the deep cerebellar nuclei and lateral vestibular nucleus. Loss of synaptic endings onto the neurons of these nuclei was evident. Hypertrophied Purkinje cell recurrent axons and enhanced retrograde synaptic endings were present in the granular layer. Bergmann glia was strongly labeled by anti-GFAP, but no abnormal supplementary fibers were seen. None of these alterations were present in the normal sister. However, abnormal vacuolation of the Purkinje cell main dendrites was evident in all three cats, but not in six unrelated control cats that were 3-6 months old. The inferior olive and pontine nuclei were also normal. The two ataxic cats had a primary Purkinje cell degeneration that shared many common features with the abnormal Purkinje cells of the nervous mutant mouse.
Résibois
Anne
A
Laboratoire de Chimie Biologique et de la Nutrition CP 611, Université Libre de Bruxelles, 808 route de Lennik, 1070 Bruxelles, Belgium. aresiboi@ulb.ac.be
Poncelet
Luc
L
D000818:Animals; D000831:Animals, Newborn; D001259:Ataxia / Q000503:physiopathology; D064032:Calbindin 2; D064026:Calbindins; D002415:Cats; D002531:Cerebellum / Q000378:metabolism / Q000473:pathology*; D003712:Dendrites / Q000378:metabolism; D005904:Glial Fibrillary Acidic Protein / Q000378:metabolism; D007150:Immunohistochemistry / Q000379:methods; D051379:Mice; D008818:Mice, Neurologic Mutants; D008869:Microtubule-Associated Proteins / Q000378:metabolism; D019150:Neuroaxonal Dystrophies / Q000378:metabolism / Q000473:pathology* / Q000503:physiopathology; D016900:Neurofilament Proteins / Q000378:metabolism; D009457:Neuroglia / Q000378:metabolism; D010641:Phenotype; D011689:Purkinje Cells / Q000378:metabolism / Q000473:pathology*; D064030:S100 Calcium Binding Protein G / Q000378:metabolism; D014404:Tubulin / Q000378:metabolism; D020691:rab GTP-Binding Proteins / Q000378:metabolism; D016875:tau Proteins / Q000378:metabolism
D064032:Calbindin 2; D064026:Calbindins; D005904:Glial Fibrillary Acidic Protein; D008869:Microtubule-Associated Proteins; D016900:Neurofilament Proteins; C484540:Rab33a protein, mouse; D064030:S100 Calcium Binding Protein G; D014404:Tubulin; D016875:tau Proteins; D020691:rab GTP-Binding Proteins