Skip to main content
Hauptrubriken
CME Facharzt-Training Webinare Zeitschriften Bücher e.Medpedia Podcast
Service
Jobbörse Info & Hilfe
Fachgebiete
Anästhesiologie Allgemeinmedizin Arbeitsmedizin Augenheilkunde Chirurgie Dermatologie Gynäkologie und Geburtshilfe HNO Innere Medizin Kardiologie Neurologie Onkologie und Hämatologie Orthopädie und Unfallchirurgie Pädiatrie Pathologie Psychiatrie Radiologie Rechtsmedizin Urologie Zahnmedizin
Themen
Typ-2-Diabetes und Adipositas Klimawandel und Gesundheit Neues aus dem Markt Praxis und Beruf Seltene Erkrankungen GOÄ & EBM Panorama
Sammlungen
Kasuistiken Algorithmen & Infografiken Blickdiagnosen Arthropedia FlapFinder (für Dermatochirurgen) Videos Kongressberichterstattung Medizin für Apothekerinnen und Apotheker Für Ärztinnen und Ärzte in Weiterbildung Für Medizinstudierende Patientenratgeber
Erweiterte Suche
Anmelden
nach oben
The Cerebellum
Erschienen in:

01.06.2019 | Review

Motor Performances of Spontaneous and Genetically Modified Mutants with Cerebellar Atrophy

verfasst von: Robert Lalonde, Catherine Strazielle

Erschienen in: The Cerebellum | Ausgabe 3/2019

Einloggen, um Zugang zu erhalten

Abstract

Chance discovery of spontaneous mutants with atrophy of the cerebellar cortex has unearthed genes involved in optimizing motor coordination. Rotorod, stationary beam, and suspended wire tests are useful in delineating behavioral phenotypes of spontaneous mutants with cerebellar atrophy such as Grid2Lc, Grid2ho, Rorasg, Agtpbp1pcd, Relnrl, and Dab1scm. Likewise, transgenic or null mutants serving as experimental models of spinocerebellar ataxia (SCA) are phenotyped with the same tests. Among experimental models of autosomal dominant SCA, rotorod deficits were reported in SCA1 to 3, SCA5 to 8, SCA14, SCA17, and SCA27 and stationary beam deficits in SCA1 to 3, SCA5, SCA6, SCA13, SCA17, and SCA27. Beam tests are sensitive to experimental therapies of various kinds including molecules affecting glutamate signaling, mesenchymal stem cells, anti-oligomer antibodies, lentiviral vectors carrying genes, interfering RNAs, or neurotrophic factors, and interbreeding with other mutants.
Literatur
1.
2.
Lalonde R, Strazielle C. Motor performance of spontaneous murine mutations with cerebellar atrophy. In: Crusio W, Gerlai R, editors. Handbook of molecular-genetic techniques for brain and behavior research (techniques in the behavioral and neural sciences), vol. 13. Amsterdam: Elsevier; 1999. p. 627–37.CrossRef
3.
Brooks SP, Dunnett SB. Tests to assess motor phenotype in mice: a user’s guide. Nat Rev Neurosci. 2009;10:519–29.CrossRefPubMed
4.
Caddy KW, Biscoe TJ. Structural and quantitative studies on the normal C3H and Lurcher mutant mouse. Philos Trans R Soc Lond Ser B Biol Sci. 1979;287:167–201.CrossRef
5.
Guastavino J-M, Sotelo C, Damez-Kinselle I. Hot-foot murine mutation: behavioral effects and neuroanatomical alterations. Brain Res. 1990;523:199–210.CrossRefPubMed
6.
Herrup K, Mullen RJ. Regional variation and absence of large neurons in the cerebellum of the staggerer mouse. Brain Res. 1979;172:1–12.CrossRefPubMed
7.
Mullen RJ, Eicher EM, Sidman RL. Purkinje cell degeneration: a new neurological mutation in the mouse. Proc Natl Acad Sci U S A. 1976;73:208–12.CrossRefPubMedPubMedCentral
8.
Mariani J, Crepel F, Mikoshiba K, Changeux J-P, Sotelo C. Anatomical, physiological and biochemical studies of the cerebellum from Reeler mutant mouse. Philos Trans R Soc Lond Ser B Biol Sci. 1977;281:1–28.CrossRef
9.
Sweet HO, Bronson RT, Johnson KR, Cook SA, Davisson MT. Scrambler, a new neurological mutation of the mouse with abnormalities of neuronal migration. Mamm Genome. 1996;7:798–802.CrossRefPubMed
10.
Zuo J, De Jager PI, Takahashi KA, Jiang W, Linden DJ, Heintz N. Neurodegeneration in Lurcher mutant mice caused by mutation in the delta2 glutamate receptor gene. Nature. 1997;388:769–73.CrossRefPubMed
11.
Takayama C, Nakagawa S, Watanabe M, Mishina M, Inoue Y. Developmental changes in expression and distribution of the glutamate receptor channel delta2 subunit according to the Purkinje cell maturation. Dev Brain Res. 1996;92:147–55.CrossRef
12.
Lalouette A, Guénet J-L, Vriz S. Hot-foot mutations affect the δ2 glutamate receptor gene and are allelic to Lurcher. Genomics. 1998;50:9–13.CrossRefPubMed
13.
Lalouette A, Lohof A, Sotelo C, Guénet J, Mariani J. Neurobiological effects of a null mutation depend on genetic context: comparison between two hotfoot alleles of the delta-2 ionotropic glutamate receptor. Neuroscience. 2001;105:443–55.CrossRefPubMed
14.
Matsuda S, Yuzaki M. Mutation in hotfoot-4J mice results in retention of δ2 glutamate receptors in ER. Eur J Neurosci. 2002;16:1507–16.CrossRefPubMed
15.
Kashiwabuchi N, Ikeda K, Araki K, Hirano T, Shibuki K, Takayama C, et al. Impairment of motor coordination, Purkinje cell synapse formation, and cerebellar long-term depression in GluR delta 2 mutant mice. Cell. 1995;81:245–52.CrossRefPubMed
16.
Lalonde R, Bensoula AN, Filali M. Rotorod sensorimotor learning in cerebellar mutant mice. Neurosci Res. 1995;22:423–6.CrossRefPubMed
17.
Lalonde R, Filali M, Bensoula AN, Lestienne F. Sensorimotor learning in three cerebellar mutant mice. Neurobiol Learn Mem. 1996;65:113–20.CrossRefPubMed
18.
Lalonde R, Botez MI, Joyal CC, Caumartin M. Motor deficits in Lurcher mutant mice. Physiol Behav. 1992;51:523–5.CrossRefPubMed
19.
Strazielle C, Krémarik P, Ghersi-Egea JF, Lalonde R. Regional brain variations of cytochrome oxidase activity and motor coordination in Lurcher mutant mice. Exp Brain Res. 1998;121:35–45.CrossRefPubMed
20.
Hilber P, Caston J. Motor skills and motor learning in Lurcher mutant mice during aging. Neuroscience. 2001;102:615–23.CrossRefPubMed
21.
Krémarik P, Strazielle C, Lalonde R. Regional brain variations of cytochrome oxidase activity and motor coordination in hot-foot mutant mice. Eur J Neurosci. 1998;10:2802–9.CrossRefPubMed
22.
Hamilton BA, Frankel WN, Kerrebrock AW, Hawkins TL, Fitzhugh W, Kusumi K, et al. Disruption of the nuclear hormone receptor ROR in staggerer mice. Nature. 1996;379:736–9.CrossRefPubMed
23.
Nakagawa S, Watanabe M, Inoue Y. Prominent expression of nuclear hormone receptor RORα in Purkinje cells from early development. Neurosci Res. 1997;28:177–84.CrossRefPubMed
24.
Doulazmi M, Frederic F, Capone F, Becker-Andre M, Delhaye-Bouchaud N, Mariani J. A comparative study of Purkinje cells in two RORα gene mutant mice: staggerer and RORα−/−. Dev Brain Res. 2001;127:165–74.CrossRef
25.
Steinmayr M, André E, Conquet F, Rondi-Reig L, Delhaye-Bouchaud N, Auclair N, et al. Staggerer phenotype in retinoid-related orphan receptor α-deficient mice. Proc Natl Acad Sci U S A. 1998;95:3960–5.CrossRefPubMedPubMedCentral
26.
Mitsumura K, Hosoi N, Furuya N, Hirai H. Disruption of metabotropic glutamate receptor signalling is a major defect at cerebellar parallel fibre-Purkinje cell synapses in staggerer mutant mice. J Physiol. 2011;589:3191–209.CrossRefPubMedPubMedCentral
27.
28.
Deiss V, Strazielle C, Lalonde R. Regional brain variations of cytochrome oxidase activity and motor co-ordination in staggerer mutant mice. Neuroscience. 2000;95:903–11.CrossRefPubMed
29.
Fernandez-Gonzalez A, La Spada AR, Treadaway J, Higdon JC, Harris BS, Sidman RL, et al. Purkinje cell degeneration (pcd) phenotypes caused by mutations in the axotomy-induced gene, Nna1. Science. 2002;295:1904–6.CrossRefPubMed
30.
Landis SC, Mullen RJ. The development and degeneration of Purkinje cells in pcd mutant mice. J Comp Neurol. 1978;177:125–44.CrossRefPubMed
31.
Le Marec N, Lalonde R. Sensorimotor learning and retention during equilibrium tests in Purkinje cell degeneration mutant mice. Brain Res. 1997;768:310–6.CrossRefPubMed
32.
D’Arcangelo G, Miao GG, Chen S-C, Soared HD, Morgan JI, Curran T. A protein related to extracellular matrix proteins deleted in the mouse mutant reeler. Nature. 1995;374:719–23.CrossRefPubMed
33.
D’Arcangelo G, Homayouni R, Keshvara L, Rice DS, Sheldon M, Curran T. Reelin is a ligand for lipoprotein receptors. Neuron. 1999;24:471–9.CrossRefPubMed
34.
Hirotsune S, Takahara T, Sasaki N, Hirose K, Yoshiki A, Ohashi T, et al. The reeler gene encodes a protein with an EGF-like motif expressed by pioneer neurons. Nat Genet. 1995;10:77–83.CrossRefPubMed
35.
Hack I, Bancila M, Loulier K, Carroll P, Cremer H. Reelin is a detachment signal in tangential chain-migration during postnatal neurogenesis. Nat Neurosci. 2002;5:939–45.CrossRefPubMed
36.
Stanfield BB, Cowan WM. The morphology of the hippocampus and dentate gyrus in normal and reeler mutant mice. J Comp Neurol. 1979;185:393–422.CrossRefPubMed
37.
Dräger UC. Observations on the organization of the visual cortex in the reeler mouse. J Comp Neurol. 1981;201:555–70.CrossRefPubMed
38.
Schiffmann SN, Bernier B, Goffinet AM. Reelin mRNA expression during mouse brain development. Eur J Neurosci. 1997;9:1055–71.CrossRefPubMed
39.
Caviness VS Jr, Rakic P. Mechanisms of cortical development: a view from mutations in mice. Annu Rev Neurosci. 1978;1:297–326.CrossRefPubMed
40.
Lalonde R, Hayzoun K, Derer M, Mariani J, Strazielle C. Neurobehavioral evaluation of Rel rl-Orl mutant mice and correlations with cytochrome oxidase activity. Neurosci Res. 2004;49:297–305.CrossRefPubMed
41.
Jacquelin C, Lalonde R, Jantzen-Ossola C, Strazielle C. Neurobehavioral performances and brain regional metabolism in Dab1 scm (scrambler) mutant mice. Behav Brain Res. 2013;252:92–100.CrossRefPubMed
42.
Lalonde R, Strazielle C. Sensorimotor learning in Dab1 scm (scrambler) mutant mice. Behav Brain Res. 2011;218:350–2.CrossRefPubMed
43.
Burright EN, Clark HB, Servadio A, Matilla T, Feddersen RM, Yunis WS, et al. SCA1 transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat. Cell. 1995;82:937–48.CrossRefPubMed
44.
Fernandez-Funez P, Nino-Rosales ML, de Gouyon B, She WC, Luchak JM, Martinez P, et al. Identification of genes that modify ataxin-1-induced neurodegeneration. Nature. 2000;408:101–6.CrossRefPubMed
45.
Zu T, Duvick LA, Kaytor MD, Berlinger MS, Zoghbi HY, Clark HB, et al. Recovery from polyglutamine-induced neurodegeneration in conditional SCA1 transgenic mice. J Neurosci. 2004;24:8853–61.CrossRefPubMed
46.
Watase K, Weeber EJ, Xu B, Antalffy B, Yuva-Paylor L, Hashimoto K, et al. A long CAG repeat in the mouse Sca1 locus replicates SCA1features and reveals the impact of protein solubility on selective neurodegeneration. Neuron. 2002;34:905–19.CrossRefPubMed
47.
Lorenzetti D, Watase K, Xu B, Matzuk MM, Orr HT, Zoghbi HY. Repeat instability and motor incoordination in mice with a targeted expanded CAG repeat in the Sca1 locus. Hum Mol Genet. 2000;9:779–85.CrossRefPubMed
48.
Huynh DP, Figueroa K, Hoang N, Pulst SM. Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human. Nat Genet. 2000;26:44–50.CrossRefPubMed
49.
Aguiar J, Fernández J, Aguilar A, Mendoza Y, Vázquez M, Suárez J, et al. Ubiquitous expression of human SCA2 gene under the regulation of the SCA2 self promoter cause specific Purkinje cell degeneration in transgenic mice. Neurosci Lett. 2006;392:202–6.CrossRefPubMed
50.
Hansen ST, Meera P, Otis TS, Pulst SM. Changes in Purkinje cell firing and gene expression precede behavioral pathology in a mouse model of SCA2. Hum Mol Genet. 2013;22:271–83.CrossRefPubMed
51.
Dansithong W, Paul S, Figueroa KP, Rinehart MD, Wiest S, Pflieger LT, et al. Ataxin-2 regulates RGS8 translation in a new BAC-SCA2 transgenic mouse model. PLoS Genet. 2015;11:e1005182.CrossRefPubMedPubMedCentral
52.
Damrath E, Heck MV, Gispert S, Azizov M, Nowock J, Seifried C, et al. ATXN2-CAG42 sequesters PABPC1 into insolubility and induces FBXW8 in cerebellum of old ataxic knock-in mice. PLoS Genet. 2012;8:e1002920.CrossRefPubMedPubMedCentral
53.
Torashima T, Koyama C, Iizuka A, Mitsumura K, Takayama K, Yanagi S, et al. Lentivector-mediated rescue from cerebellar ataxia in a mouse model of spinocerebellar ataxia. EMBO Rep. 2008;9:393–9.CrossRefPubMedPubMedCentral
54.
Goti D, Katzen SM, Mez J, Kurtis N, Kiluk J, Ben-Haïem L, et al. A mutant ataxin-3 putative-cleavage fragment in brains of Machado–Joseph disease patients and transgenic mice is cytotoxic above a critical concentration. J Neurosci. 2004;24:10266–79.CrossRefPubMed
55.
Ikeda H, Yamaguchi M, Sugai S, Aze Y, Narumiya S, Kakizuka A. Expanded polyglutamine in the Machado–Joseph disease protein induces cell death in vitro and in vivo. Nat Genet. 1996;13:196–202.CrossRefPubMed
56.
Chou AH, Yeh TH, Ouyang P, Chen YL, Chen SY, Wang HL. Polyglutamine-expanded ataxin-3 causes cerebellar dysfunction of SCA3 transgenic mice by inducing transcriptional dysregulation. Neurobiol Dis. 2008;31:89–101.CrossRefPubMed
57.
Silva-Fernandes A, Costa MC, Duarte-Silva S, Oliveirac P, Botelhoa MC, Martinsa L, et al. Motor uncoordination and neuropathology in a transgenic mouse model of Machado-Joseph disease lacking intranuclear inclusions and ataxin-3 cleavage products. Neurobiol Dis. 2010;40:163–76.CrossRefPubMed
58.
Silva-Fernandes A, Duarte-Silva S, Neves-Carvalho A, Amorim M, Soares-Cunha C, Oliveira P, et al. Chronic treatment with 17-DMAG improves balance and coordination in a new mouse model of Machado-Joseph disease. Neurotherapeutics. 2014;11:433–49.CrossRefPubMedPubMedCentral
59.
Bichelmeier U, Schmidt T, Hübener J, Boy J, Rüttiger L, Häbig K, et al. Nuclear localization of ataxin-3 is required for the manifestation of symptoms in SCA3: in vivo evidence. J Neurosci. 2007;27:7418–28.CrossRefPubMedPubMedCentral
60.
Boy J, Schmidt T, Schumann U, Grasshoff U, Unser S, Holzmann C, et al. A transgenic mouse model of spinocerebellar ataxia type 3 resembling late disease onset and gender-specific instability of CAG repeats. Neurobiol Dis. 2010;37:284–93.CrossRefPubMed
61.
Ramani B, Harris GM, Huang R, Seki T, Murphy GG, Costa Mdo C, et al. A knockin mouse model of spinocerebellar ataxia type 3 exhibits prominent aggregate pathology and aberrant splicing of the disease gene transcript. Hum Mol Genet. 2015;24:1211–24.CrossRefPubMed
62.
Switonski PM, Szlachcic WJ, Krzyzosiak WJ, Figiel M. A new humanized ataxin-3 knock-in mouse model combines the genetic features, pathogenesis of neurons and glia and late disease onset of SCA3/MJD. Neurobiol Dis. 2015;73:174–88.CrossRefPubMed
63.
Boy J, Schmidt T, Wolburg H, Mack A, Nuber S, Böttcher M, et al. Reversibility of symptoms in a conditional mouse model of spinocerebellar ataxia type 3. Hum Mol Genet. 2009;18:4282–95.CrossRefPubMed
64.
Cemal CK, Carroll CJ, Lawrence L, Lowrie MB, Ruddle P, Al-Mahdawi S, et al. YAC transgenic mice carrying pathological alleles of the MJD1 locus exhibit a mild and slowly progressive cerebellar deficit. Hum Mol Genet. 2002;11:1075–94.CrossRefPubMed
65.
Perkins EM, Clarkson YL, Sabatier N, Longhurst DM, Millward CP, Jack J, et al. Loss of beta-III spectrin leads to Purkinje cell dysfunction recapitulating the behavior and neuropathology of spinocerebellar ataxia type 5 in humans. J Neurosci. 2010;30:4857–67.CrossRefPubMedPubMedCentral
66.
Stankewich MC, Gwynn B, Ardito T, Ji L, Kim J, Robledo RF, et al. Targeted deletion of betaIII spectrin impairs synaptogenesis and generates ataxic and seizure phenotypes. Proc Natl Acad Sci U S A. 2010;107:6022–7.CrossRefPubMedPubMedCentral
67.
Armbrust KR, Wang X, Hathorn TJ, Cramer SW, Chen G, Zu T, et al. Mutant β-III spectrin causes mGluR1α mislocalization and functional deficits in a mouse model of spinocerebellar ataxia type 5. J Neurosci. 2014;34:9891–904.CrossRefPubMedPubMedCentral
68.
Mark MD, Krause M, Boele HJ, Kruse W, Pollok S, Kuner T, et al. Spinocerebellar ataxia type 6 protein aggregates cause deficits in motor learning and cerebellar plasticity. J Neurosci. 2015;35:8882–95.CrossRefPubMedPubMedCentral
69.
Du X, Wang J, Zhu H, Rinaldo L, Lamar KM, Palmenberg AC, et al. Second cistron in CACNA1A gene encodes a transcription factor mediating cerebellar development and SCA6. Cell. 2013;154:118–33.CrossRefPubMedPubMedCentral
70.
Watase K, Barrett CF, Miyazaki T, Ishiguro T, Ishikawa K, Hu Y, et al. Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant CaV2.1 channels. Proc Natl Acad Sci U S A. 2008;105:11987–92.CrossRefPubMedPubMedCentral
71.
Jayabal S, Ljungberg L, Watt AJ. Transient cerebellar alterations during development prior to obvious motor phenotype in a mouse model of spinocerebellar ataxia type 6. J Physiol. 2017;595:949–66.CrossRefPubMed
72.
Unno T, Wakamori M, Koike M, Uchiyama Y, Ishikawa K, Kubota H, et al. Development of Purkinje cell degeneration in a knockin mouse model reveals lysosomal involvement in the pathogenesis of SCA6. Proc Natl Acad Sci U S A. 2012;109:17693–8.CrossRefPubMedPubMedCentral
73.
Chou AH, Chen CY, Chen SY, Chen WJ, Chen YL, Weng YS, et al. Polyglutamine-expanded ataxin-7 causes cerebellar dysfunction by inducing transcriptional dysregulation. Neurochem Int. 2010;56:329–39.CrossRefPubMed
74.
Yvert G, Lindenberg KS, Picaud S, Landwehrmeyer GB, Sahel JA, Mandel J-L. Expanded polyglutamines induce neurodegeneration and transneuronal alterations in cerebellum and retina of SCA7 transgenic mice. Hum Mol Genet. 2000;9:2491–506.CrossRefPubMed
75.
Custer SK, Garden GA, Gill N, Rueb U, Libby RT, Schultz C, et al. Bergmann glia expression of polyglutamine-expanded ataxin-7 produces neurodegeneration by impairing glutamate transport. Nat Neurosci. 2006;9:1302–11.CrossRefPubMed
76.
Garden GA, Libby RT, Fu YH, Kinoshita Y, Huang J, Possin DE, et al. Polyglutamine-expanded ataxin-7 promotes non-cell-autonomous Purkinje cell degeneration and displays proteolytic cleavage in ataxic transgenic mice. J Neurosci. 2002;22:4897–905.CrossRefPubMed
77.
Yvert G, Lindenberg KS, Devys D, Helmlinger D, Landwehrmeyer GB, Mandel J-L. SCA7 mouse models show selective stabilization of mutant ataxin-7 and similar cellular responses in different neuronal cell types. Hum Mol Genet. 2001;10:1679–92.CrossRefPubMed
78.
Furrer SA, Mohanachandran MS, Waldherr SM, Chang C, Damian VA, Sopher BL, et al. Spinocerebellar ataxia type 7 cerebellar disease requires the coordinated action of mutant ataxin-7 in neurons and glia, and displays non-cell-autonomous bergmann glia degeneration. J Neurosci. 2011;31:16269–78.CrossRefPubMedPubMedCentral
79.
Yoo SY, Pennesi ME, Weeber EJ, Xu B, Atkinson R, Chen S, et al. SCA7 knockin mice model human SCA7 and reveal gradual accumulation of mutant ataxin-7 in neurons and abnormalities in short-term plasticity. Neuron. 2003;37:383–401.CrossRefPubMed
80.
Alves S, Marais T, Biferi MG, Furling D, Marinello M, El Hachimi K, et al. Lentiviral vector-mediated overexpression of mutant ataxin-7 recapitulates SCA7 pathology and promotes accumulation of the FUS/TLS and MBNL1 RNA-binding proteins. Mol Neurodegener. 2016;11(1):58.CrossRefPubMedPubMedCentral
81.
He Y, Zu T, Benzow KA, Orr HT, Clark HB, Koob MD. Targeted deletion of a single Sca8 ataxia locus allele in mice causes abnormal gait, progressive loss of motor coordination, and Purkinje cell dendritic deficits. J Neurosci. 2006;26:9975–82.CrossRefPubMedPubMedCentral
82.
Moseley ML, Zu T, Ikeda Y, Gao W, Mosemiller AK, Daughters RS, et al. Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8. Nat Genet. 2006;38:758–69.CrossRefPubMed
83.
White M, Xia G, Gao R, Wakamiya M, Sarkar PS, McFarland K, et al. Transgenic mice with SCA10 pentanucleotide repeats show motor phenotype and susceptibility to seizure: a toxic RNA gain-of-function model. J Neurosci Res. 2012;90:706–14.CrossRefPubMed
84.
McMahon A, Fowler SC, Perney T, Akemann W, Knöpfel T, Joho RH. Allele-dependent changes of olivocerebellar circuit properties in the absence of the voltage-gated potassium channels Kv3.1 and Kv3.3. Eur J Neurosci. 2004;19:3317–27.CrossRefPubMed
85.
Zhang Y, Snider A, Willard L, Takemoto DJ, Lin D. Loss of Purkinje cells in the PKCgamma H101Y transgenic mouse. Biochem Biophys Res Commun. 2009;378:524–8.CrossRefPubMed
86.
Shuvaev AN, Horiuchi H, Seki T, Goenawan H, Irie T, Iizuka A, et al. Mutant PKCγ in spinocerebellar ataxia type 14 disrupts synapse elimination and long-term depression in Purkinje cells in vivo. J Neurosci. 2011;31:14324–34.CrossRefPubMedPubMedCentral
87.
van de Leemput J, Chandran J, Knight MA, Holtzclaw LA, Scholz S, Cookson MR, et al. Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. PLoS Genet. 2007;3(6):e108.CrossRefPubMedPubMedCentral
88.
Matsumoto M, Nakagawa T, Inoue T, Nagata E, Tanaka K, Takano H, et al. Ataxia and epileptic seizures in mice lacking type 1 inositol 1,4,5-trisphosphate receptor. Nature. 1996;379:168–71.CrossRefPubMed
89.
Street VA, Bosma MM, Demas VP, Regan MR, Lin DD, Robinson LC, et al. The type 1 inositol 1,4,5-trisphosphate receptor gene is altered in the opisthotonos mouse. J Neurosci. 1997;17:635–45.CrossRefPubMed
90.
Chang YC, Lin CW, Hsu CM, Lee-Chen GJ, Su MT, Ro LS, et al. Targeting the prodromal stage of spinocerebellar ataxia type 17 mice: G-CSF in the prevention of motor deficits via upregulating chaperone and autophagy levels. Brain Res. 2016;1639:132–48.CrossRefPubMed
91.
Huang S, Ling JJ, Yang S, Li XJ, Li S. Neuronal expression of TATA box-binding protein containing expanded polyglutamine in knock-in mice reduces chaperone protein response by impairing the function of nuclear factor-Y transcription factor. Brain. 2011;134:1943–58.CrossRefPubMedPubMedCentral
92.
Kelp A, Koeppen AH, Petrasch-Parwez E, Calaminus C, Bauer C, Portal E, et al. A novel transgenic rat model for spinocerebellar ataxia type 17 recapitulates neuropathological changes and supplies in vivo imaging biomarkers. J Neurosci. 2013;33:9068–81.CrossRefPubMedPubMedCentral
93.
Tempia F, Hoxha E, Negro G, Alshammari MA, Alshammari TK, Panova-Elektronova N, et al. Parallel fiber to Purkinje cell synaptic impairment in a mouse model of spinocerebellar ataxia type 27. Front Cell Neurosci. 2015;9:205.CrossRefPubMedPubMedCentral
94.
Maltecca F, Magnoni R, Cerri F, Cox GA, Quattrini A, Casari G. Haploinsufficiency of AFG3L2, the gene responsible for spinocerebellar ataxia type 28, causes mitochondria-mediated Purkinje cell dark degeneration. J Neurosci. 2009;29:9244–54.CrossRefPubMedPubMedCentral
95.
Clark HB, Orr HT. Spinocerebellar ataxia type 1-modeling the pathogenesis of a polyglutamine neurodegenerative disorder in transgenic mice. J Neuropathol Exp Neurol. 2000;59:265–70.CrossRefPubMed
96.
Skinner PJ, Koshy BT, Cummings CJ, Klement IA, Helin K, Servadio A, et al. Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures. Nature. 1997;389:971–4.CrossRefPubMed
97.
Clark HB, Burright EN, Yunis WS, Larson S, Wilcox C, Hartman B, et al. Purkinje cell expression of a mutant allele of SCA1 in transgenic mice leads to disparate effects on motor behaviors, followed by a progressive cerebellar dysfunction and histological alterations. J Neurosci. 1997;17:7385–95.CrossRefPubMed
98.
Matilla A, Roberson ED, Banfi S, Morales J, Armstrong DL, Burright EN, et al. Mice lacking ataxin-1 display learning deficits and decreased hippocampal paired-pulse facilitation. J Neurosci. 1998;18:5508–16.CrossRefPubMed
99.
Shuvaev AN, Hosoi N, Sato Y, Yanagihara D, Hirai H. Progressive impairment of cerebellar mGluR signalling and its therapeutic potential for cerebellar ataxia in spinocerebellar ataxia type 1 model mice. J Physiol. 2017;595:141–64.CrossRefPubMed
100.
Matsuura S, Shuvaev AN, Iizuka A, Nakamura K, Hirai H. Mesenchymal stem cells ameliorate cerebellar pathology in a mouse model of spinocerebellar ataxia type 1. Cerebellum. 2014;13:323–30.CrossRefPubMed
101.
Nakamura K, Mieda T, Suto N, Matsuura S, Hirokazu Hirai H. Mesenchymal stem cells as a potential therapeutic tool for spinocerebellar ataxia. Cerebellum. 2015;14:165–70.CrossRefPubMed
102.
Chintawar S, Hourez R, Ravella A, Gall D, Orduz D, Rai M, et al. Grafting neural precursor cells promotes functional recovery in an SCA1 mouse model. J Neurosci. 2009;29:13126–35.CrossRefPubMedPubMedCentral
103.
Shahbazian MD, Orr HT, Zoghbi HY. Reduction of Purkinje cell pathology in SCA1 transgenic mice by p53 deletion. Neurobiol Dis. 2001;8:974–81.CrossRefPubMed
104.
Cummings CJ, Sun Y, Opal P, Antalffy B, Mestril R, Orr HT, et al. Over-expression of inducible HSP70 chaperone suppresses neuropathology and improves motor function in SCA1 mice. Hum Mol Genet. 2001;10:1511–8.CrossRefPubMed
105.
Cummings CJ, Reinstein E, Sun Y, Antalffy B, Jiang Y, Ciechanover A, et al. Mutation of the E6-AP ubiquitin ligase reduces nuclear inclusion frequency while accelerating polyglutamine-induced pathology in SCA1 mice. Neuron. 1999;24:879–92.CrossRefPubMed
106.
Xia H, Mao Q, Eliason SL, Harper SQ, Martins IH, Orr HT, et al. RNAi suppresses polyglutamine-induced neurodegeneration in a model of spinocerebellar ataxia. Nat Med. 2004;10:816–20.CrossRefPubMed
107.
Lasagna-Reeves CA, Rousseaux MW, Guerrero-Munoz MJ, Vilanova-Velez L, Park J, See L, et al. Ataxin-1 oligomers induce local spread of pathology and decreasing them by passive immunization slows spinocerebellar ataxia type 1 phenotypes. ELife. 2015;4:e10891.CrossRefPubMedPubMedCentral
108.
Cvetanovic M, Patel JM, Marti HH, Kini AR, Opal P. Vascular endothelial growth factor ameliorates the ataxic phenotype in a mouse model of spinocerebellar ataxia type 1. Nat Med. 2011;17:1445–7.CrossRefPubMedPubMedCentral
109.
Watase K, Gatchel JR, Sun Y, Emamian E, Atkinson R, Richman R, et al. Lithium therapy improves neurological function and hippocampal dendritic arborization in a spinocerebellar ataxia type 1 mouse model. PLoS Med. 2007;4(5):e182.CrossRefPubMedPubMedCentral
110.
Perroud B, Jafar-Nejad P, Wikoff WR, Gatchel JR, Wang L, Barupal DK, et al. Pharmacometabolomic signature of ataxia SCA1 mouse model and lithium effects. PLoS One. 2013;8(8):e70610.CrossRefPubMedPubMedCentral
111.
Stucki DM, Ruegsegger C, Steiner S, Radecke J, Murphy MP, Zuber B, et al. Mitochondrial impairments contribute to spinocerebellar ataxia type 1 progression and can be ameliorated by the mitochondria-targeted antioxidant MitoQ. Free Radic Biol Med. 2016;97:427–40.CrossRefPubMed
112.
Gennarino VA, Singh RK, White JJ, De Maio A, Han K, Kim JY, et al. Pumilio1 haploinsufficiency leads to SCA1-like neurodegeneration by increasing wild-type ataxin1 levels. Cell. 2015;160:1087–98.CrossRefPubMedPubMedCentral
113.
Alves-Cruzeiro JM, Mendonça L, Pereira de Almeida L, Nóbrega C. Motor dysfunctions and neuropathology in mouse models of spinocerebellar ataxia type 2: a comprehensive review. Front Neurosci. 2016;10:572.CrossRefPubMedPubMedCentral
114.
Imbert G, Saudou F, Yvert G, Devys D, Trottier Y, Garnier JM, et al. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet. 1996;14:285–91.CrossRefPubMed
115.
Kiehl TR, Nechiporuk A, Figueroa KP, Keating MT, Huynh DP, Pulst SM. Generation and characterization of Sca2 (ataxin-2) knockout mice. Biochem Biophys Res Commun. 2006;339:17–24.CrossRefPubMed
116.
Liu J, Tang T-S, Tu H, Nelson O, Herndon E, Huynh DP, et al. Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 2. J Neurosci. 2009;29:9148–62.CrossRefPubMedPubMedCentral
117.
Kasumu AW, Liang X, Egorova P, Vorontsova D, Bezprozvanny I. Chronic suppression of inositol 1,4,5-triphosphate receptor-mediated calcium signaling in cerebellar purkinje cells alleviates pathological phenotype in spinocerebellar ataxia 2 mice. J Neurosci. 2012;32:12786–96.CrossRefPubMedPubMedCentral
118.
Chang YK, Chen MH, Chiang YH, Chen YF, Ma WH, Tseng CY, et al. Mesenchymal stem cell transplantation ameliorates motor function deterioration of spinocerebellar ataxia by rescuing cerebellar Purkinje cells. J Biomed Sci. 2011;18:54.CrossRefPubMedPubMedCentral
119.
Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet. 1994;8:221–8.CrossRefPubMed
120.
Padiath QS, Srivastava AK, Roy S, Jain S, Brahmachari SK. Identification of a novel 45 repeat unstable allele associated with a disease phenotype at the MJD1/SCA3 locus. Am J Med Genet B Neuropsychiatr Genet. 2005;133B:124–6.CrossRefPubMed
121.
Schöls L, Bauer P, Schmidt T, Schulte T, Riess O. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol. 2004;3:291–304.CrossRefPubMed
122.
Coutinho P, Andrade C. Autosomal dominant system degeneration in Portuguese families of the Azores Islands. A new genetic disorder involving cerebellar, pyramidal, extrapyramidal and spinal cord motor functions. Neurology. 1978;28:703–9.CrossRefPubMed
123.
Stevanin G, Durr A, Brice A. Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology. Eur J Hum Genet. 2000;8:4–18.CrossRefPubMed
124.
Chen X, Tang TS, Tu H, Nelson O, Pook M, Hammer R, et al. Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 3. J Neurosci. 2008;28:12713–24.CrossRefPubMedPubMedCentral
125.
126.
Switonski PM, Fiszer A, Kazmierska K, Kurpisz M, Krzyzosiak WJ, Figiel M. Mouse ataxin-3 functional knock-out model. NeuroMolecular Med. 2011;13:54–65.CrossRefPubMed
127.
Saida H, Matsuzaki Y, Takayama K, Iizuka A, Konno A, Yanagi S, et al. One-year follow-up of transgene expression by integrase-defective lentiviral vectors and their therapeutic potential in spinocerebellar ataxia model mice. Gene Ther. 2014;21:820–7.CrossRefPubMed
128.
Nobrega C, Nascimento-Ferreira I, Onofre I, Albuquerque D, Hirai H, Déglon N, et al. Silencing mutant ataxin-3 rescues motor deficits and neuropathology in Machado-Joseph disease transgenic mice. PLoS One. 2013a;8(1):e52396.CrossRefPubMedPubMedCentral
129.
Chou AH, Yeh TH, Kuo YL, Kao YC, Jou MJ, Hsu CY, et al. Polyglutamine-expanded ataxin-3 activates mitochondrial apoptotic pathway by upregulating Bax and downregulating Bcl-xL. Neurobiol Dis. 2006;21:335–45.CrossRef
130.
Wang HL, Hu SH, Chou AH, Wang SS, Weng YH, Yeh TH. H1152 promotes the degradation of polyglutamine-expanded ataxin-3 or ataxin-7 independently of its ROCK-inhibiting effect and ameliorates mutant ataxin-3-induced neurodegeneration in the SCA3 transgenic mouse. Neuropharmacology. 2013;70:1–11.CrossRefPubMed
131.
Chou AH, Chen SY, Yeh TH, Weng YH, Wang HL. HDAC inhibitor sodium butyrate reverses transcriptional downregulation and ameliorates ataxic symptoms in a transgenic mouse model of SCA3. Neurobiol Dis. 2011;41:481–8.CrossRefPubMed
132.
Chou AH, Chen YL, Chiu CC, Yuan SJ, Weng YH, Yeh TH, et al. T1-11 and JMF1907 ameliorate polyglutamine-expanded ataxin-3-induced neurodegeneration, transcriptional dysregulation and ataxic symptom in the SCA3 transgenic mouse. Neuropharmacology. 2015;99:308–17.CrossRefPubMed
133.
Nguyen HP, Hübener J, Weber JJ, Grueninger S, Riess O, Weiss A. Cerebellar soluble mutant ataxin-3 level decreases during disease progression in spinocerebellar ataxia type 3 mice. PLoS One. 2013;8:e62043.CrossRefPubMedPubMedCentral
134.
Schmidt J, Schmidt T, Golla M, Lehmann L, Weber JJ, Hübener-Schmid J, et al. In vivo assessment of riluzole as a potential therapeutic drug for spinocerebellar ataxia type 3. J Neurochem. 2016;138:150–62.CrossRefPubMed
135.
Shakkottai VG, do Carmo Costa M, Dell’Orco JM, Sankaranarayanan A, Wulff H, Paulson HL. Early changes in cerebellar physiology accompany motor dysfunction in the polyglutamine disease spinocerebellar ataxia type 3. J Neurosci. 2011;31:13002–14.CrossRefPubMedPubMedCentral
136.
Rodriguez-Lebron E, Costa MD, Luna-Cancalon K, Peron TM, Fischer S, Boudreau RL, et al. Silencing mutant ATXN3 expression resolves molecular phenotypes in SCA3 transgenic mice. Mol Ther. 2013;21:1909–18.CrossRefPubMedPubMedCentral
137.
Nobrega C, Nascimento-Ferreira I, Onofre I, Albuquerque D, Conceição M, Déglon N, et al. Overexpression of mutant ataxin-3 in mouse cerebellum induces ataxia and cerebellar neuropathology. Cerebellum. 2013;12:441–55.CrossRefPubMed
138.
Dick KA, Ikeda Y, Day JW, Ranum LP. Spinocerebellar ataxia type 5. Handb Clin Neurol. 2012;103:451–9.CrossRefPubMed
139.
Stevanin G, Herman A, Brice A, Dürr A. Clinical and MRI findings in spinocerebellar ataxia type 5. Neurology. 1999;53:1355–7.CrossRefPubMed
140.
Ohara O, Ohara R, Yamakawa H, Nakajima D, Nakayama M. Characterization of a new beta-spectrin gene which is predominantly expressed in brain. Mol Brain Res. 1998;57:181–92.CrossRefPubMed
141.
Ishikawa K, Tanaka H, Saito M, Ohkoshi N, Fujita T, Yoshizawa K, et al. Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1. Am J Hum Genet. 1997;61:336–46.CrossRefPubMedPubMedCentral
142.
Rochester L, Galna B, Lord S, Mhiripiri D, Eglon G, Chinnery PF. Gait impairment precedes clinical symptoms in spinocerebellar ataxia type 6. Mov Disord. 2014;29:252–5.CrossRefPubMed
143.
Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet. 1997;15:62–9.CrossRefPubMed
144.
Ljungberg L, Lang-Ouellette D, Yang A, Jayabal S, Quilez S, Watt AJ. Transient developmental Purkinje cell axonal torpedoes in healthy and ataxic mouse cerebellum. Front Cell Neurosci. 2016;10:248.CrossRefPubMedPubMedCentral
145.
Jayabal S, Ljungberg L, Erwes T, Cormier A, Quilez S, El Jaouhari S, et al. Rapid onset of motor deficits in a mouse model of spinocerebellar ataxia type 6 precedes late cerebellar degeneration. eNeuro. 2015;2(6):1–18.CrossRef
146.
147.
David G, Abbas N, Stevanin G, Durr A, Yvert G, Cancel G, et al. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet. 1997;17:65–70.CrossRefPubMed
148.
David G, Durr A, Stevanin G, Cancel G, Abbas N, Yvert G, et al. Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy. Hum Mol Genet. 1998;7:165–70.CrossRefPubMed
149.
Garden AG, La Spada AR. Molecular pathogenesis and cellular pathology of spinocerebellar ataxia type 7 neurodegeneration. Cerebellum. 2008;22:138–49.CrossRef
150.
Yu X, Ajayi A, Boga NR, Ström AL. Differential degradation of full-length and cleaved ataxin-7 fragments in a novel stable inducible SCA7 model. J Mol Neurosci. 2012;47:219–33.CrossRefPubMedPubMedCentral
151.
Ramachandran PS, Boudreau RL, Schaefer KA, La Spada AR, Davidson BL. Nonallele specific silencing of ataxin-7 improves disease phenotypes in a mouse model of SCA7. Mol Ther. 2014;22:1635–42.CrossRefPubMedPubMedCentral
152.
Furrer SA, Waldherr SM, Mohanachandran MS, Baughn TD, Nguyen KT, Sopher BL, et al. Reduction of mutant ataxin-7 expression restores motor function and prevents cerebellar synaptic reorganization in a conditional mouse model of SCA7. Hum Mol Genet. 2013;22:890–903.CrossRefPubMed
153.
Noma S, Ohya-Shimada W, Kanai M, Ueda K, Nakamura T, Funakoshi H. Overexpression of HGF attenuates the degeneration of Purkinje cells and Bergmann glia in a knockin mouse model of spinocerebellar ataxia type 7. Neurosci Res. 2012;73:115–21.CrossRefPubMed
154.
Chort A, Alves S, Marinello M, Dufresnois B, Dornbierer JG, Tesson C, et al. Interferon β induces clearance of mutant ataxin 7 and improves locomotion in SCA7 knock-in mice. Brain. 2013;136:1732–45.CrossRefPubMed
155.
Koob MD, Moseley ML, Schut LJ, Benzow KA, Bird TD, Day JW, et al. An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). Nat Genet. 1999;21:379–84.CrossRefPubMed
156.
Day JW, Schut LJ, Moseley ML, Durand AC, Ranum LPW. Spinocerebellar ataxia type 8: clinical features in a large family. Neurology. 2000;55:649–57.CrossRefPubMed
157.
Juvonen V, Hietala M, Päivärinta M, Rantamäki M, Hakamies L, Kaakkola S, et al. Clinical and genetic findings in Finnish ataxia patients with the spinocerebellar ataxia 8 repeat expansion. Ann Neurol. 2000;48:354–61.CrossRefPubMed
158.
Daughters RS, Tuttle DL, Gao W, Ikeda Y, Moseley ML, Ebner TJ, et al. RNA gain-of-function in spinocerebellar ataxia type 8. PLoS Genet. 2009;5(8):e1000600.CrossRefPubMedPubMedCentral
159.
Matsuura T, Yamagata T, Burgess DL, Rasmussen A, Grewal RP, Watase K, et al. Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nat Genet. 2000;26:191–4.CrossRefPubMed
160.
Zu L, Figueroa KP, Grewal R, Pulst SM. Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22. Am J Hum Genet. 1999;64:594–9.CrossRefPubMedPubMedCentral
161.
Grewal RP, Achari M, Matsuura T, Durazo A, Tayag E, Zu L, et al. Clinical features and ATTCT repeat expansion in spinocerebellar ataxia type 10. Arch Neurol. 2002;59:1285–90.CrossRefPubMed
162.
Rasmussen A, Matsuura T, Ruano L, Yescas P, Ochoa A, Ashizawa T, et al. Clinical and genetic analysis of four Mexican families with spinocerebellar ataxia type 10. Ann Neurol. 2001;50:234–9.CrossRefPubMed
163.
Teive HA, Roa BB, Raskin S, Fang P, Arruda WO, Neto YC, et al. Clinical phenotype of Brazilian families with spinocerebellar ataxia 10. Neurology. 2004;63:1509–12.CrossRefPubMed
164.
165.
White MC, Gao R, Xu W, Mandal S, Lim JG, Hazra TK, et al. Inactivation of hnRNP K by expanded intronic AUUCU repeat induces apoptosis via translocation of PKCdelta to mitochondria in spinocerebellar ataxia. PLoS Genet. 2010;6:e1000984.CrossRefPubMedPubMedCentral
166.
Waters MF, Minassian NA, Stevanin G, Figueroa KP, Bannister JPA, Nolte D, et al. Mutations in the voltage-gated potassium channel KCNC3 cause degenerative and developmental CNS phenotypes. Nat Genet. 2006;38:447–51.CrossRefPubMed
167.
168.
Issa FA, Mock AF, Sagasti A, Papazian DM. Spinocerebellar ataxia type 13 mutation that is associated with disease onset in infancy disrupts axonal pathfinding during neuronal development. Dis Model Mech. 2012;5:921–9.CrossRefPubMedPubMedCentral
169.
Irie T, Matsuzaki Y, Sekino Y, Hirai H. Kv3.3 channels harbouring a mutation of spinocerebellar ataxia type 13 alter excitability and induce cell death in cultured cerebellar Purkinje cells. J Physiol. 2014;592:229–47.CrossRefPubMed
170.
Joho RH, Street C, Matsushita S, Knöpfel T. Behavioral motor dysfunction in Kv3-type potassium channel-deficient mice. Genes Brain Behav. 2006;5:472–82.CrossRefPubMed
171.
Hurlock EC, McMahon A, Joho RH. Purkinje-cell-restricted restoration of Kv3.3 function restores complex spikes and rescues motor coordination in Kcnc3 mutants. J Neurosci. 2008;28:4640–8.CrossRefPubMedPubMedCentral
172.
Hiramoto K, Kawakami H, Inoue K, Seki T, Maruyama H, Morino H, et al. Identification of a new family of spinocerebellar ataxia type 14 in the Japanese spinocerebellar ataxia population by the screening of PRKCG exon 4. Mov Disord. 2006;21:1355–60.CrossRefPubMed
173.
Klebe S, Durr A, Rentschler A, Hahn-Barma V, Abele M, Bouslam N, et al. New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14. Ann Neurol. 2005;58:720–9.CrossRefPubMed
174.
Chen DH, Raskind WH, Bird TD. Spinocerebellar ataxia type 14. Handb Clin Neurol. 2012;103:555–9.CrossRefPubMed
175.
Knight MA, Kennerson ML, Anney RJ, Matsuura T, Nicholson GA, Salimi-Tari P, et al. Spinocerebellar ataxia type 15 (sca15) maps to 3p24.2-3pter: exclusion of the ITPR1 gene, the human orthologue of an ataxic mouse mutant. Neurobiol Dis. 2003;13:147–57.CrossRefPubMed
176.
Marelli C, van de Leemput J, Johnson JO, Tison F, Thauvin-Robinet C, Picard F, et al. SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia. Arch Neurol. 2011;68:637–43.CrossRefPubMedPubMedCentral
177.
178.
Gardner RJ, Knight MA, Hara K, Tsuji S, Forrest SM, Storey E. Spinocerebellar ataxia type 15. Cerebellum. 2005;4:47–50.CrossRefPubMed
179.
Koide R, Kobayashi S, Shimohata T, Ikeuchi T, Maruyama M, Saito M, et al. A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease? Hum Mol Genet. 1999;8:2047–53.CrossRefPubMed
180.
Nakamura K, Jeong SY, Uchihara T, Anno M, Nagashima K, Nagashima T, et al. SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. Hum Mol Genet. 2001;10:1441–8.CrossRefPubMed
181.
Rolfs A, Koeppen AH, Bauer I, Bauer P, Buhlmann S, Topka H, et al. Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17). Ann Neurol. 2003;54:367–75.CrossRefPubMed
182.
Cui Y, Yang S, Li XJ, Li S. Genetically modified rodent models of SCA17. J Neurosci Res. 2017;95:1540–7.CrossRefPubMed
183.
Chang YC, Lin CY, Hsu CM, Lin HC, Chen YH, Lee-Chen GJ, et al. Neuroprotective effects of granulocyte-colony stimulating factor in a novel transgenic mouse model of SCA17. J Neurochem. 2011;118:288–303.CrossRefPubMed
184.
Huang DS, Lin HY, Lee-Chen GJ, Hsieh-Li HM, Wu CH, Lin JY. Treatment with a Ginkgo biloba extract, EGb 761, inhibits excitotoxicity in an animal model of spinocerebellar ataxia type 17. Drug Des Devel Ther. 2016;10:723–31.PubMedPubMedCentral
185.
Yang S, Huang S, Gaertig MA, Li XJ, Li S. Age-dependent decrease in chaperone activity impairs MANF expression, leading to Purkinje cell degeneration in inducible SCA17 mice. Neuron. 2014;81:349–65.CrossRefPubMedPubMedCentral
186.
van Swieten JC, Brusse E, de Graaf BM, Krieger E, van de Graaf R, de Koning I, et al. A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia. Am J Hum Genet. 2003;72:191–9.CrossRefPubMed
187.
Brusse E, de Koning I, Maat-Kievit A, Oostra BA, Heutink P, van Swieten JC. Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): a new phenotype. Mov Disord. 2006;21:396–401.CrossRefPubMed
188.
Laezza F, Gerber BR, Lou JY, Kozel MA, Hartman H, Craig AM, et al. The FGF14(F145S) mutation disrupts the interaction of FGF14 with voltage-gated Na+ channels and impairs neuronal excitability. J Neurosci. 2007;27:12033–44.CrossRefPubMedPubMedCentral
189.
Misceo D, Fannemel M, Barøy T, Roberto R, Tvedt B, Jaeger T, et al. SCA27 caused by a chromosome translocation: further delineation of the phenotype. Neurogenetics. 2009;10:371–4.CrossRefPubMed
190.
Wang Q, Bardgett ME, Wong M, Wozniak DF, Lou J, McNeil BD, et al. Ataxia and paroxysmal dyskinesia in mice lacking axonally transported FGF14. Neuron. 2002;35:25–38.CrossRefPubMed
191.
Wozniak DF, Xiao M, Xu L, Yamada KA, Ornitz DM. Impaired spatial learning and defective theta burst induced LTP in mice lacking fibroblast growth factor 14. Neurobiol Dis. 2007;26:14–26.CrossRefPubMedPubMedCentral
192.
Di Bella D, Lazzaro F, Brusco A, Plumari M, Battaglia G, Pastore A, et al. Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28. Nat Genet. 2010;42:313–21.CrossRefPubMed
193.
Smets K, Deconinck T, Baets J, Sieben A, Martin JJ, Smouts I, et al. Partial deletion of AFG3L2 causing spinocerebellar ataxia type 28. Neurology. 2014;82:2092–100.CrossRefPubMed
194.
Politi LS, Bianchi Marzoli S, Godi C, Panzeri M, Ciasca P, Brugnara G, et al. MRI evidence of cerebellar and extraocular muscle atrophy differently contributing to eye movement abnormalities in SCA2 and SCA28 diseases. Invest Ophthalmol Vis Sci. 2016;57:2714–20.CrossRefPubMed
195.
Mariotti C, Brusco A, Di Bella D, Cagnoli C, Seri M, Gellera C, et al. Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis. Cerebellum. 2008;7:184–8.CrossRefPubMed
196.
Maltecca F, Aghaie A, Schroeder DG, Cassina L, Taylor BA, Phillips SJ, et al. The mitochondrial protease AFG3L2 is essential for axonal development. J Neurosci. 2008;28:2827–36.CrossRefPubMedPubMedCentral
197.
Maltecca F, Baseggio E, Consolato F, Mazza D, Podini P, Young SM Jr, et al. Purkinje neuron Ca2+ influx reduction rescues ataxia in SCA28 model. J Clin Invest. 2015;125:263–74.CrossRefPubMed
198.
Holmes G. The symptoms of acute cerebellar injuries due to gunshot injuries. Brain. 1917;40:461–535.CrossRef
199.
Sidman RL, Green MC, Appel SH. Catalog of the neurological mutants of the mouse. Cambridge: Harvard University Press; 1965.CrossRef
200.
Lalonde R, Strazielle C. Brain regions and genes affecting myoclonus in animals. Neurosci Res. 2012;74:69–79.CrossRefPubMed
201.
Lalonde R, Strazielle C. Brain regions and genes affecting limb-clasping responses. Brain Res Rev. 2011;67:252–9.CrossRefPubMed
202.
Plotnikoff N, Reinke D, Fitzloff J. Effects of stimulants on rotarod performance of mice. J Pharm Sci. 1962;51:1007–8.CrossRefPubMed
203.
Jones BJ, Roberts DJ. The quantitative measurement of motor inco-ordination in naive mice using an accelerating rotarod. J Pharm Pharmacol. 1968;20:302–4.CrossRefPubMed
204.
Gasbarri A, Pompili A, Pacitti C, Cicirata F. Comparative effects of lesions to the ponto-cerebellar and olivo-cerebellar pathways on motor and spatial learning in the rat. Neuroscience. 2003;116:1131–40.CrossRefPubMed
205.
Jeljeli M, Strazielle C, Caston J, Lalonde R. Effects of ventrolateral-ventromedial thalamic lesions on motor coordination and spatial orientation in rats. Neurosci Res. 2003;47:309–16.CrossRefPubMed
206.
Rozas G, López-Martín E, Guerra MJ, Labandeira-García JL. The overall rotorod performance test in the MPTP-treated-mouse model of parkinsonism. J Neurosci Methods. 1998;83:165–75.CrossRefPubMed
207.
Jeljeli M, Strazielle C, Caston J, Lalonde R. Effects of lesions of the lateral pallidum on motor coordination, spatial learning, and regional brain variations of cytochrome oxidase activity in rats. Behav Brain Res. 1999;102:61–71.CrossRefPubMed
208.
Pisa M. Motor somatotopy in the striatum of rat: manipulation, biting and gait. Behav Brain Res. 1988;27:21–35.CrossRefPubMed
209.
Schneiderman Fish B, Baisden RH, Woodruff ML. Cerebellar nuclear lesions in rats: subsequent avoidance behavior and ascending anatomical connections. Brain Res. 1979;166:27–38.CrossRef
210.
Joyal CC, Meyer C, Jacquart G, Mahler P, Caston J, Lalonde R. Effects of midline and lateral cerebellar lesions on motor coordination and spatial orientation. Brain Res. 1996;739:1–11.CrossRefPubMed
211.
Lalonde R, Strazielle C. Brain regions and genes affecting postural control. Prog Neurobiol. 2007;81:45–60.CrossRefPubMed
Metadaten
Titel
Motor Performances of Spontaneous and Genetically Modified Mutants with Cerebellar Atrophy
verfasst von
Robert Lalonde
Catherine Strazielle
Publikationsdatum
01.06.2019
Verlag
Springer US
Erschienen in
The Cerebellum / Ausgabe 3/2019
Print ISSN: 1473-4222
Elektronische ISSN: 1473-4230
DOI
https://doi.org/10.1007/s12311-019-01017-5

Weitere Artikel der Ausgabe 3/2019

Abnormal Cerebellar Connectivity Patterns in Patients with Parkinson’s Disease and Freezing of Gait

  • Original Paper

The Cerebellum Modulates Attention Network Functioning: Evidence from a Cerebellar Transcranial Direct Current Stimulation and Attention Network Test Study

  • Original Paper

Past and Present of Eye Movement Abnormalities in Ataxia-Telangiectasia

  • Review

Human Brain Region-Specific Alternative Splicing of TRPC3, the Type 3 Canonical Transient Receptor Potential Non-Selective Cation Channel

  • Original Paper

An Improved Method for Differentiating Mouse Embryonic Stem Cells into Cerebellar Purkinje Neurons

  • Original Paper

Neural Evidence of the Cerebellum as a State Predictor

  • Open Access
  • Original Paper

Kompaktes Leitlinien-Wissen Neurologie (Link öffnet in neuem Fenster)

Mit medbee Pocketcards schnell und sicher entscheiden.
Leitlinien-Wissen kostenlos und immer griffbereit auf ihrem Desktop, Handy oder Tablet.

Kostenlos registrieren

Neu im Fachgebiet Neurologie

Kaum Vorteile durch intraarterielle Lyse während Thrombektomie

Nach der Thrombektomie kleinere Fragmente über eine intraarterielle Lyse auflösen – dies könnte die Schlaganfalltherapie verbessern. Zwei aktuelle Studien ergeben für die periprozedurale Lyse jedoch keine großen Vorteile. Die Frage, wie viel sie nützt, bleibt weiter offen.

Nasenstimulation lindert chronische Migräne

Wird die Naseninnenseite durch Vibrationen stimuliert, kann dies offenbar die Zahl der Migränetage von Menschen mit chronischer Migräne deutlich senken. Darauf deuten die Resultate einer randomisiert-kontrollierten deutsch-finnischen Untersuchung.

Stumme Schlaganfälle − ein häufiger Nebenbefund im Kopf-CT?

In 4% der in der Notfallambulanz initiierten zerebralen Bildgebung sind „alte“ Schlaganfälle zu erkennen. Gar nicht so selten handelt es sich laut einer aktuellen Studie dabei um unbemerkte Insulte. Bietet sich hier womöglich die Chance auf ein effektives opportunistisches Screening?

Die elektronische Patientenakte kommt: Das sollten Sie jetzt wissen

Am 15. Januar geht die „ePA für alle“ zunächst in den Modellregionen an den Start. Doch schon bald soll sie in allen Praxen zum Einsatz kommen. Was ist jetzt zu tun? Was müssen Sie wissen? Wir geben in einem FAQ Antworten auf 21 Fragen.

Update Neurologie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.

Newsletter bestellen
Bildnachweise