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首页> 外文期刊>Comparative Medicine >Spontaneous Spongiform Brainstem Degeneration in a Young Mouse Lemur (Microcebus murinus) with Conspicuous Behavioral, Motor, Growth, and Ocular Pathologies
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Spontaneous Spongiform Brainstem Degeneration in a Young Mouse Lemur (Microcebus murinus) with Conspicuous Behavioral, Motor, Growth, and Ocular Pathologies

机译：在幼小的小鼠狐猴（Microcebus murinus）中的自发海绵状脑干变性，具有显着的行为，电机，生长和眼部病理学

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Here we report a case of severe growth retardation and neurologic abnormalities in a female gray mouse lemur (Microcebus murinus), 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 LARGE2 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 LARGE2.
机译：在这里，我们举报了雌性灰色小鼠狐猴（MicroCeBus Murinus）中严重的生长延迟和神经系统异常的情况，最近产生了基因组序列的小NHP物种。我们在这里展示的女性狐猴在后期的第125天去世了。这种狐猴的开发能力损害了运动技能，并显示出严重的共济失调和震颤。此外，听力似乎正常，而眼科检查揭示了初期的双侧白内障，左眼镜片中的异常色素沉着，以及表现出视力受损的缺失的视神经囊肿。最突出的是，狐猴表现出严重的生长迟缓。尸检显示出左侧脑室的左侧生殖器官和单侧扩张的畸形，这是在脑MRI上确认的。脑组织学进一步揭示了脑干内的大，双侧的真空区域，但免疫组化表明了病理朊病毒蛋白沉积的迹象。狐猴的全基因组测序揭示了大型基因家族的大量2的病理突变，其与先天性肌营养不良有关。然而，还存在其他基因中的潜在功能性突变。所观察到的动物中的观察到的行为和电机标志可能与海绵状变性有关，并导致脑干功能障碍和渐进式肌肉无力。宏观发育异常和眼科发现可能是遗传原因，与大型2中的突变有关。

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