Spontaneous Spongiform Brainstem Degeneration in a Young Mouse Lemur (Microcebus murinus) with Conspicuous Behavioral, Motor, Growth, and Ocular Pathologies.

 
TitleSpontaneous Spongiform Brainstem Degeneration in a Young Mouse Lemur (Microcebus murinus) with Conspicuous Behavioral, Motor, Growth, and Ocular Pathologies.
Publication TypeJournal Article
Year of Publication2018
AuthorsSchmidtke, D, Lempp, C, Dubicanac, M, Radespiel, U, Zimmermann, E, Baumgärtner, W, Kästner, S, Meier, M, Balkema-Buschmann, A, Harris, RA, Raveendran, M, Muzny, DM, Worley, KC, Rogers, J
JournalComp Med
Volume68
Issue6
Pagination489-495
Date Published2018 12 01
ISSN1532-0820
KeywordsAnimals, Behavior, Animal, Brain Stem, Cheirogaleidae, Eye, Female, Growth Disorders, Neurodegenerative Diseases, Primate Diseases, Walker-Warburg Syndrome
Abstract

Here we report a case of severe growth retardation and neurologic abnormalities in a female gray mouse lemur (), a small NHP species for which the genomic sequence recently became available. The female lemur we present here died on postnatal day 125. This lemur had impaired development of motor skills and showed severe ataxia and tremors. In addition, hearing seemed normal whereas ophthalmic examination revealed incipient bilateral cataracts, abnormal pigmentation in the lens of the left eye, and a missing optokinetic nystagmus, which indicated impaired vision. Most prominently, the lemur showed severe growth retardation. Necropsy revealed maldevelopment of the left reproductive organs and unilateral dilation of the right lateral ventricle, which was confirmed on brain MRI. Brain histology further revealed large, bilateral areas of vacuolation within the brainstem, but immunohistochemistry indicated no sign of pathologic prion protein deposition. Full genomic sequencing of the lemur revealed a probably pathologic mutation in of the LARGE gene family, which has been associated with congenital muscular dystrophies. However, potentially functional mutations in other genes were also present. The observed behavioral and motor signs in the presented animal might have been linked to spongiform degeneration and resulting brainstem dysfunction and progressive muscle weakness. The macroscopic developmental abnormalities and ophthalmic findings might be genetic in origin and linked to the mutation in .

DOI10.30802/AALAS-CM-18-000019
Alternate JournalComp. Med.
PubMed ID30486920
PubMed Central IDPMC6310204