Abstract：
:Inherited neurodegenerative disorders are debilitating diseases that occur across different species, such as the domestic dog (Canis lupus familiaris), and many are caused by mutations in the same genes as corresponding human conditions. In the present study, we report an inherited neurodegenerative condition, termed 'neuronal vacuolation and spinocerebellar degeneration' (NVSD) which affects neonatal or young dogs, mainly Rottweilers, which recently has been linked with the homozygosity for the RAB3GAP1:c.743delC allele. Mutations in human RAB3GAP1 cause Warburg micro syndrome (WARBM), a severe developmental disorder characterized predominantly by abnormalities of the nervous system including axonal peripheral neuropathy. RAB3GAP1 encodes the catalytic subunit of a GTPase activator protein and guanine exchange factor for Rab3 and Rab18 proteins, respectively. Rab proteins are involved in membrane trafficking in the endoplasmic reticulum, autophagy, axonal transport and synaptic transmission. The present study attempts to carry out a detailed histopathological examination of NVSD disease, extending from peripheral nerves to lower brain structures focusing on the neurotransmitter alterations noted in the cerebellum, the major structure affected. NVSD dogs presented with progressive cerebellar ataxia and some clinical manifestations that recapitulate the WARBM phenotype. Neuropathological examination revealed dystrophic axons, neurodegeneration and intracellular vacuolization in specific nuclei. In the cerebellum, severe vacuolation of cerebellar nuclei neurons, atrophy of Purkinje cells, and diminishing of GABAergic and glutamatergic fibres constitute the most striking lesions. The balance of evidence suggests that the neuropathological lesions are a reaction to the altered neurotransmission. The canine phenotype could serve as a model to delineate the disease-causing pathological mechanisms in RAB3GAP1 mutation. .
journal_name
Folia Neuropatholjournal_title
Folia neuropathologicaauthors
Giannakopoulou Adoi
10.5114/fn.2017.68580subject
Has Abstractpub_date
2017-01-01 00:00:00pages
132-145issue
2eissn
1641-4640issn
1509-572Xpii
30152journal_volume
55pub_type
杂志文章abstract：:PPAX6 is an important transcription factor which plays an essential role in brain morphogenesis and eye development. It is related to migration of neuroblasts to the cerebral cortex and deep telencephalic nuclei, and the specification of cellular and regional identity. Disturbances of brain development in two sib fetu...
journal_title：Folia neuropathologica
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journal_title：Folia neuropathologica
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journal_title：Folia neuropathologica
pub_type： 杂志文章,评审
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更新日期：2004-01-01 00:00:00
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journal_title：Folia neuropathologica
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更新日期：2001-01-01 00:00:00
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journal_title：Folia neuropathologica
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doi：
更新日期：1995-01-01 00:00:00
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journal_title：Folia neuropathologica
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更新日期：2004-01-01 00:00:00
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journal_title：Folia neuropathologica
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更新日期：2004-01-01 00:00:00
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journal_title：Folia neuropathologica
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doi：10.5114/fn.2020.100063
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journal_title：Folia neuropathologica
pub_type： 杂志文章,评审
doi：
更新日期：1999-01-01 00:00:00
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journal_title：Folia neuropathologica
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更新日期：1994-01-01 00:00:00
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更新日期：2009-01-01 00:00:00
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journal_title：Folia neuropathologica
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更新日期：2009-01-01 00:00:00
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journal_title：Folia neuropathologica
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更新日期：2006-01-01 00:00:00
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更新日期：2011-01-01 00:00:00
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journal_title：Folia neuropathologica
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更新日期：2000-01-01 00:00:00
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journal_title：Folia neuropathologica
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更新日期：2005-01-01 00:00:00
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journal_title：Folia neuropathologica
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更新日期：2008-01-01 00:00:00
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