Progressive thalamocortical neuron loss in Cln5 deficient mice: Distinct effects in Finnish variant late infantile NCL
Copyright policy )Progressive thalamocortical neuron loss in Cln5 deficient mice: Distinct effects in Finnish variant late infantile NCL
Finnish variant LINCL (vLINCL(Fin)) is the result of mutations in the CLN5 gene. To gain insights into the pathological staging of this fatal pediatric disorder, we have undertaken a stereological analysis of the CNS of Cln5 deficient mice (Cln5-/-) at different stages of disease progression. Consistent with human vLINCL(Fin), these Cln5-/- mice displayed a relatively late onset regional atrophy and generalized cortical thinning and synaptic pathology, preceded by early and localized glial responses within the thalamocortical system. However, in marked contrast to other forms of NCL, neuron loss in Cln5-/- mice began in the cortex and only subsequently occurred within thalamic relay nuclei. Nevertheless, as in other NCL mouse models, this progressive thalamocortical neuron loss was still most pronounced within the visual system. These data provide unexpected evidence for a distinctive sequence of neuron loss in the thalamocortical system of Cln5-/- mice, diametrically opposed to that seen in other forms of NCL.
- University of Helsinki Finland
- National Institute of Health Pakistan
- Institute for Molecular Medicine Finland Finland
- King's College London United Kingdom
- Kings College London, University of London United Kingdom
Batten disease, Lysosomal storage disorder, 610, Neurosciences. Biological psychiatry. Neuropsychiatry, Mice, Thalamus, Neuronal Ceroid-Lipofuscinoses, Neural Pathways, Animals, Genetic Predisposition to Disease, Visual Pathways, Age of Onset, Thalamocortical neurodegeneration, Finland, Cerebral Cortex, Mice, Knockout, Membrane Glycoproteins, CLN5, Lysosomal Membrane Proteins, Mice, Inbred C57BL, Disease Models, Animal, Finnish variant late infantile neuronal ceroid lipofuscinosis, Mutation, Nerve Degeneration, Disease Progression, Atrophy, RC321-571
Batten disease, Lysosomal storage disorder, 610, Neurosciences. Biological psychiatry. Neuropsychiatry, Mice, Thalamus, Neuronal Ceroid-Lipofuscinoses, Neural Pathways, Animals, Genetic Predisposition to Disease, Visual Pathways, Age of Onset, Thalamocortical neurodegeneration, Finland, Cerebral Cortex, Mice, Knockout, Membrane Glycoproteins, CLN5, Lysosomal Membrane Proteins, Mice, Inbred C57BL, Disease Models, Animal, Finnish variant late infantile neuronal ceroid lipofuscinosis, Mutation, Nerve Degeneration, Disease Progression, Atrophy, RC321-571
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