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      From mice to men: lessons from mutant ataxic mice

      review-article
      Author(s):
      Publication date (Electronic):
      Journal: Cerebellum & Ataxias
      Publisher: BioMed Central
      Keywords: Ataxia, Cerebellum, Neurodegeneration

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          Abstract

          Ataxic mutant mice can be used to represent models of cerebellar degenerative disorders. They serve for investigation of cerebellar function, pathogenesis of degenerative processes as well as of therapeutic approaches. Lurcher, Hot-foot, Purkinje cell degeneration, Nervous, Staggerer, Weaver, Reeler, and Scrambler mouse models and mouse models of SCA1, SCA2, SCA3, SCA6, SCA7, SCA23, DRPLA, Niemann-Pick disease and Friedreich ataxia are reviewed with special regard to cerebellar pathology, pathogenesis, functional changes and possible therapeutic influences, if any. Finally, benefits and limitations of mouse models are discussed.

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          Most cited references313

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          A protein related to extracellular matrix proteins deleted in the mouse mutant reeler.

          G D'Arcangelo, G Miao, S. Chen … (1995)
          The autosomal recessive mouse mutation reeler leads to impaired motor coordination, tremors and ataxia. Neurons in affected mice fail to reach their correct locations in the developing brain, disrupting the organization of the cerebellar and cerebral cortices and other laminated regions. Here we use a previously characterized reeler allele (rl(tg)) to close a gene, reelin, deleted in two reeler alleles. Normal but not mutant mice express reelin in embryonic and postnatal neurons during periods of neuronal migration. The encoded protein resembles extracellular matrix proteins involved in cell adhesion. The reeler phenotype thus seems to reflect a failure of early events associated with brain lamination which are normally controlled by reelin.
          Article 0 comments Cited 285 times – based on 0 reviews     Review now
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            Distributed synergistic plasticity and cerebellar learning.

            Johannes van Goudoever, Zhenyu Gao, I. Heredia-de La Cruz (2012)
            Studies on synaptic plasticity in the context of learning have been dominated by the view that a single, particular type of plasticity forms the underlying mechanism for a particular type of learning. However, emerging evidence shows that many forms of synaptic and intrinsic plasticity at different sites are induced conjunctively during procedural memory formation in the cerebellum. Here, we review the main forms of long-term plasticity in the cerebellar cortex that underlie motor learning. We propose that the different forms of plasticity in the granular layer and the molecular layer operate synergistically in a temporally and spatially distributed manner, so as to ultimately create optimal output for behaviour.
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              Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations.

              Y Shugart, Christopher Hong, G Steven Huang … (2000)
              Normal development of the cerebral cortex requires long-range migration of cortical neurons from proliferative regions deep in the brain. Lissencephaly ("smooth brain," from "lissos," meaning smooth, and "encephalos," meaning brain) is a severe developmental disorder in which neuronal migration is impaired, leading to a thickened cerebral cortex whose normally folded contour is simplified and smooth. Two identified lissencephaly genes do not account for all known cases, and additional lissencephaly syndromes have been described. An autosomal recessive form of lissencephaly (LCH) associated with severe abnormalities of the cerebellum, hippocampus and brainstem maps to chromosome 7q22, and is associated with two independent mutations in the human gene encoding reelin (RELN). The mutations disrupt splicing of RELN cDNA, resulting in low or undetectable amounts of reelin protein. LCH parallels the reeler mouse mutant (Reln(rl)), in which Reln mutations cause cerebellar hypoplasia, abnormal cerebral cortical neuronal migration and abnormal axonal connectivity. RELN encodes a large (388 kD) secreted protein that acts on migrating cortical neurons by binding to the very low density lipoprotein receptor (VLDLR), the apolipoprotein E receptor 2 (ApoER2; refs 9-11 ), alpha3beta1 integrin and protocadherins. Although reelin was previously thought to function exclusively in brain, some humans with RELN mutations show abnormal neuromuscular connectivity and congenital lymphoedema, suggesting previously unsuspected functions for reelin in and outside of the brain.
              Article 0 comments Cited 168 times – based on 0 reviews     Review now
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                Author and article information

                Contributors
                Jan Cendelin: jan.cendelin@lfp.cuni.cz
                Journal
                Journal ID (nlm-ta): Cerebellum Ataxias
                Journal ID (iso-abbrev): Cerebellum Ataxias
                Title: Cerebellum & Ataxias
                Publisher: BioMed Central (London )
                ISSN (Electronic): 2053-8871
                Publication date (Electronic): 16 June 2014
                Publication date PMC-release: 16 June 2014
                Publication date Collection: 2014
                Volume: 1
                Electronic Location Identifier: 4
                Affiliations
                [ ]Department of Pathophysiology, Faculty of Medicine in Pilsen, Charles University in Prague, Lidicka 1, 301 66 Plzen, Czech Republic
                [ ]Biomedical Centre, Faculty of Medicine in Pilsen, Charles University in Prague, Plzen, Czech Republic
                Article
                Publisher ID: 4
                DOI: 10.1186/2053-8871-1-4
                PMC ID: 4549131
                PubMed ID: 26331028
                SO-VID: fe2e780e-d1eb-40b9-aee1-c645069dbb95
                Copyright © © Cendelin; licensee BioMed Central Ltd. 2014
                License:

                This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

                History
                Date received : 28 February 2014
                Date accepted : 21 April 2014
                Categories
                Subject: Review
                Custom metadata
                issue-copyright-statement © The Author(s) 2014

                Keywords: ataxia,cerebellum,neurodegeneration
                Data availability:
                Keywords: ataxia, cerebellum, neurodegeneration

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