Past, present and future therapeutics for cerebellar ataxias

Current Neuropharmacology

Volumn 8, Issue 1, 2010, Pages 41-61

  Marmolino, D ^a   Manto, M ^a,b  

^a ERASME HOSPITAL   (Belgium)

^b FNRS   (Belgium)

Author keywords

Ataxias; Cerebellum; Dominant; Recessive; Therapy; X linked

Indexed keywords

3,4 DIAMINOPYRIDINE; 4 AMINOBUTYRIC ACID; ALPHA ADRENERGIC RECEPTOR BLOCKING AGENT; ANTICONVULSIVE AGENT; BACLOFEN; BENZATROPINE; BENZODIAZEPINE DERIVATIVE; BIPERIDEN; CLONAZEPAM; DEFERIPRONE; DIPHENHYDRAMINE; DOPAMINE RECEPTOR STIMULATING AGENT; ERYTHROPOIETIN; FLUDROCORTISONE; GABAPENTIN; GLUTAMIC ACID; IDEBENONE; LEVODOPA; LITHIUM CARBONATE; MEMANTINE; MIDODRINE; PIRACETAM; PRIMIDONE; PROPRANOLOL; RILUZOLE; ROSIGLITAZONE; SPASMOLYTIC AGENT; TAURINE; UBIDECARENONE; VALPROIC ACID;

ALPHA TOCOPHEROL DEFICIENCY; APRAXIA; ATAXIA TELANGIECTASIA; BRAIN DEPTH STIMULATION; CEREBELLAR ATAXIA; CEREBROTENDINOUS XANTHOMATOSIS; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DYSTONIA; FRAGILE X SYNDROME; FRIEDREICH ATAXIA; GENE MUTATION; HEREDITARY ATAXIA; HUMAN; HYPOTENSION; MARINESCO SJOGREN SYNDROME; MYOCLONUS; NONHUMAN; NYSTAGMUS; OCCUPATIONAL THERAPY; PARKINSONISM; PHYSIOTHERAPY; REFSUM DISEASE; REVIEW; SEIZURE; SPASTICITY; SPEECH REHABILITATION; SPINOCEREBELLAR DEGENERATION; TAY SACHS DISEASE; THALAMOTOMY; TREMOR; URINARY URGENCY; WILSON DISEASE;

EID: 77950215412     PISSN: 1570159X     EISSN: None     Source Type: Journal    
DOI: 10.2174/157015910790909476     Document Type: Review

References (239)

1. Acquaviva, F., Castaldo, I., Filla, A., Giacchetti, M., Marmolino, D., Monticelli, A. Pinelli, M., Saccà, F., Cocozza, S. (2008) Recombinant human erythropoietin increases frataxin protein expression without increasing mRNA expression. Cerebellum, 7, 360-365.
2. Adams, J.S., Adams, P.E., Nguyen, D., Brunberg, J.A., Tassone, F., Zhang, W., Koldewyn, K., Rivera, S.M., Grigsby, J., Zhang, L., DeCarli, C., Hagerman, P.J., Hagerman, R.J. (2007) Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS). Neurology, 69, 851-859.
3. Ahn, A.H., Dziennis, S., Hawkes, R., Herrup, K. (1994) The cloning of zebrin II reveals its identity with aldolase C. Development, 120, 2081-2090
4. Alberch, J., Pérez-Navarro, E., Canals, J.M. (2002) Neuroprotection by neurotrophins and GDNF family members in the excitotoxic model of Huntington's disease. Brain Res. Bull., 57, 817-822
5. Anttonen, A.K., Siintola, E., Tranebjaerg, L., Iwata, N.K., Bijlsma, E.K., Meguro, H., Ichikawa, Y., Goto, J., Kopra, O., Lehesjoki, A.E. (2008) Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjogren syndrome. Eur. J. Hum. Genet., 16, 961-969.
6. Aoki, K., Washimi, Y., Fujimori, N., Maruyama, K., Yanagisawa, N. (1990) Familial idiopathic vitamin E deficiency associated with cerebellar atrophy. Rinsho Shinkeigaku, 30, 966-971.
7. Appenzeller, S., Cendes, F., Costallat, L. (2008) Cerebellar ataxia in systemic lupus erythematosus. Lupus, 17, 1122-1126
8. Arakawa, M., Ishimura, A., Arai, Y., Kawabe K., Suzuki S., Ishige K., Ito Y. Characterization of 4-hydroxynonenalinduced neuronal death in cerebellar granule neurons. Neurosci Res. in press.
9. Arakawa, M., Ito Y. (2007) N-acetylcysteine and neurodegenerative diseases: Basic and clinical pharmacology. Cerebellum, 19, 1-7.
10. Arning, L., Schols, L., Cin, H., Souquet, M., Epplen, J. T., Timmann, D. (2008) Identification and characterisation of a large senataxin (SETX) gene duplication in ataxia with ocular apraxia type 2 (AOA2). Neurogenetics, 9, 295-299.
11. Arpa, J., Campos, Y., Cruz Martínez, A., Gutiérrez Molina, M., Arenas, J., Alonso, M., Plaza, I., Morales, C., Palomo, F., Barreiro, P., et al. (1994) Clinical and investigative approaches in mitochondrial diseases. A review of 15 cases. Neurologia, 9, 324-336
12. Awasthi, Y.C., Sharma, R., Cheng, J.Z., Yang, Y., Sharma, A., Singhal, S.S., Awasthi, S. (2003) Role of 4-hydroxynonenal in stressmediated apoptosis signaling. Mol. Aspects Med., 24, 219-230
13. Azbill, R.D., Mu, X., Springer, J.E. (2000) "Riluzole increases high-affinity glutamate uptake in rat spinal cord synaptosomes". Brain Res., 871, 175-180
14. Banfi, S., Zoghbi, H.Y. (1994) Baillieres. Molecular genetics of hereditary ataxias. Clin. Neurol., 3, 281-295
15. Bataller, L., Valero, C., Díaz, R., Froufe, A., Garcia-Zarza, A., Ribalta, T., Vilchez, J.J., Saiz, A. (2009) Cerebellar ataxia associated with neuroendocrine thymic carcinoma and GAD antibodies. J. Neurol. Neurosurg. Psychiatry, 80, 696-697
16. Baude, A., Molnár, E., Latawiec, D., McIlhinney, R.A., Somogyi, P. (1994) Synaptic and nonsynaptic localization of the GluR1 subunit of the AMPA-type excitatory amino acid receptor in the rat cerebellum. J. Neurosci., 14, 2830-2843
17. Bauer, P., Laccone, F., Rolfs, A., Wüllner, U., Bösch, S., Peters, H., Liebscher, S., Scheible, M., Epplen, J.T., Weber, B.H., Holinski- Feder, E., Weirich-Schwaiger, H., Morris-Rosendahl, D.J., Andrich, J., Riess, O. (2004) Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's disease-like phenotype. J. Med. Genet., 41, 230-232
18. Becerra, L., Morris, S., Bazes, S., Gostic, R., Sherman, S., Gostic, J., Pendse, G., Moulton, E., Scrivani, S., Keith, D., Chizh, B., Borsook, D. (2006) Trigeminal neuropathic pain alters responses in CNS circuits to mechanical (brush) and thermal (cold and heat) stimuli. J. Neurosci., 26, 10646-10657
19. Beierlein, M., Regehr, W.G. (2006) Local interneurons regulate synaptic strength by retrograde release of endocannabinoids. J. Neurosci., 26, 9935-9943
20. Ben Hamida, M., Belal, S., Sirugo, G., Ben Hamida, C., Panayides, K., Ionannou, P., Beckmann, J., Mandel, J. L., Hentati, F., Koenig, M., Middleton, L. (1993) Friedreich's ataxia phenotype not linked to chromosome 9 and associated with selective autosomal recessive vitamin E deficiency in two inbred Tunisian families. Neurology, 43, 2179-2183.
21. Berry-Kravis, E., Abrams, L., Coffey, S.M., Hall, D.A., Greco, C., Gane, L.W., Grigsby, J., Bourgeois, J.A., Finucane, B., Jacquemont, S., Brunberg, J.A., Zhang, L., Lin, J., Tassone, F., Hagerman, P.J., Hagerman, R.J., Leehey, M.A. (2007) Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines. Mov. Disord., 22, 2018-2030.
22. Blanc, E.M., Kelly, J.F., Mark, R.J., Waeg ,G., Mattson, M.P. (1997) 4-Hydroxynonenal, an aldehydic product of lipid peroxidation, impairs signal transduction associated with muscarinic acetylcholine and metabotropic glutamate receptors: possible action on Gaq/11. J. Neurochem., 69, 570-580
23. Block, M.L., Zecca, L., Hong, J.S. (2007) Microglia-mediated neurotoxicity: uncovering the molecular mechanisms. Nat. Rev. Neurosci., 8, 57-69.
24. Boddaert, N., Le Quan Sang, K., Rötig, A., Leroy-Willig, A., Gallet, S., Brunelle, F. Sidi, D., Thalabard, J.C., Munnich, A., Cabantchik, Z.I. (2007) Selective iron chelation in Friedreich ataxia: biologic and clinical implications. Blood, 110, 401-408.
25. Boesch, S., Sturm, B., Hering, S., Goldenberg, H., Poewe, W., Scheiber-Mojdehkar, B. (2007) Friedreich's ataxia: clinical pilot trial with recombinant human erythropoietin. Ann. Neurol., 62, 521-524.
26. Borsook, D., Moulton, E.A., Tully, S., Schmahmann, J.D., Becerra, L. (2008) Human cerebellar responses to brush and heat stimuli in healthy and neuropathic pain subjects. Cerebellum, 7, 252-272
27. Bortolozzi, A., Duffard, R., Antonelli, M., Evangelista de Duffard A.M. (2002) Increased sensitivity in dopamine D(2)-like brain receptors from 2,4-dichlorophenoxyacetic acid (2,4-D)-exposed and amphetamine-challenged rats. Ann. N.Y. Acad. Sci., 965, 314-323
28. Boyson, S.J., McGonigle, P., Molinoff, P.B. (1986) Quantitative autoradiographic localization of the D1 and D2 subtypes of dopamine receptors in rat brain. J. Neurosci., 6, 3177-3188
29. Breckpot, J., Takiyama, Y., Thienpont, B., Van Vooren, S., Vermeesch, J.R., Ortibus, E., Devriendt, K. (2008) A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-Saguenay. Eur. J. Hum. Genet., 16, 1050-1054.
30. Brusse, E., Maat-Kievit, J.A., Van Swieten, J.C. (2007) Diagnosis and management of early-and late-onset cerebellar ataxia. Clin. Genet., 71, 12-24.
31. Brust, J.C.M. (2006) Current diagnosis & treatment in neurology. McGraw-Hill Medical, 1 edition.
32. Campuzano, V., Montermini, L., Lutz, Y., Cova, L., Hindelang, C., Jiralerspong, S. Trottier, Y., Kish, S.J., Faucheux, B., Trouillas, P., Authier, F.J., Dürr, A., Mandel, J.L., Vescovi, A., Pandolfo, M., Koenig, M. (1997) Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. Hum. Mol. Genet., 6, 1771-1780.
33. Chan, S.S., Copeland, W.C. (2009) Functional analysis of mutant mitochondrial DNA polymerase proteins involved in human disease. Methods Mol. Biol., 554, 59-72.
34. Chen, H., Von Hehn, C., Kaczmarek, L.K., Ment, L.R., Pober, B.R., Hisama, F.M. (2007) Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia. Neurogenetics, 8, 131-135.
35. Chung, S.H., Kim, C.T., Hawkes, R. (2008) Compartmentation of GABA B receptor2 expression in the mouse cerebellar cortex. Cerebellum, 7, 295-303.
36. Clausi, S., Bozzali, M., Leggio, M.G., Di Paola, M., Hagberg, G.E., Caltagirone, C., Molinari, M. (2009) Quantification of gray matter changes in the cerebral cortex after isolated cerebellar damage: A voxel-based morphometry study. Neuroscience, 7, [Epub ahead of print].
37. Coppola, G., Marmolino, D., Lu D., Wang, Q., Cnop, M., Rai, M., Acquaviva, F., Cocozza, S., Pandolfo, M., Geschwind, D.H. (2009) Functional genomic analysis of frataxin deficiency reveals tissuespecific alterations and identifies the PPARgamma pathway as a therapeutic target in Friedreich's ataxia. Hum. Mol. Genet., 18, 2452-2461
38. Correia, M., Coutinho, P., Silva, M.C., Guimaraes, J., Amado, J., Matos, E. (1995) Evaluation of the effect of sulphametoxazole and trimethoprim in patients with Machado-Joseph disease. Rev. Neurol., 23, 632-634
39. Couceyro, P., Pollock, K.M., Drews, K., Douglass, J. (1994) Cocaine differentially regulates activator protein-1 mRNA levels and DNA-binding complexes in the rat striatum and cerebellum. Mol. Pharmacol., 46, 667-676
40. Damulin, I.V., Korsakova, S.S. (2006) The use of idebenone (noben) in neurological practice. Zh. Nevrol. Psikhiatr. Im., 106, 66-71.
41. Date, H., Onodera, O., Tanaka, H., Iwabuchi, K., Uekawa, K., Igarashi, S., Koike, R., Hiroi, T., Yuasa, T., Awaya, Y., Sakai, T., Takahashi, T., Nagatomo, H., Sekijima, Y., Kawachi, I., Takiyama, Y., Nishizawa, M., Fukuhara, N., Saito, K., Sugano, S., Tsuji, S. Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene. (2001) Nat. Genet., 29, 184-188.
42. Dawson, D.M. (2001) Recessive ataxia with ocular motor apraxia. Arch. Neurol., 58, 173-174.
43. Delatycki, M., Williamson, R., Forrest, S. (2000) Friedreich ataxia: an overview. J. Med. Genet., 37, 1-8.
44. Delis, F., Mitsacos, A., Giompres, P. (2008) Pharmacological characterization and anatomical distribution of the dopamine transporter in the mouse cerebellum. Cerebellum, 7, 242-251
45. Dethy, S., Manto, M., Bastianelli, E., Gangji, V., Laute, M.A., Goldman, S., Hildebrand, J. (1997) Cerebellar spongiform degeneration induced by acute lithium intoxication in the rat. Neurosci. Lett., 224, 25-28
46. Di Prospero, N., Baker, A., Jeffries, N., Fischbeck, K. (2007) Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: a randomised, placebo-controlled trial. Lancet Neurol., 6, 878-886.
47. Di Prospero, N., Fischbeck, K. (2005) Therapeutics development for triplet repeat expansion diseases. Nat. Rev. Genet., 6, 756-765.
48. Diana, G., Pieri, M., Valentini, G. (2002) Eur Effects of Win 55,212-2 on hippocampal CA1 long-term potentiation in experiments controlled for basal glutamatergic synaptic transmission. J. Pharmacol., 453, 251-254
49. Dietrichs, E. (2008) Clinical manifestation of focal cerebellar disease as related to the organization of neural pathways. Acta Neurol. Scand. Suppl., 188, 6-11.
50. Dietrichs, E., Haines, D.E., Røste, G.K., Røste, L.S. (1994) Hypothalamocerebellar and cerebellohypothalamic projections - circuits for regulating nonsomatic cerebellar activity? Histol. Histopathol., 9, 603-614
51. Döhlinger, S., Hauser, T.K., Borkert, J., Luft, A.R., Schulz, J.B. (2008) Magnetic resonance imaging in spinocerebellar ataxias. Cerebellum, 7, 204-214
52. Dressler, D., Benecke, R. (2005) Diagnosis and management of acute movement disorders. J. Neurol., 252, 1299-1306
53. Dunlop, J., Beal McIlvain, H., She, Y., Howland, D.S. (2003) "Impaired spinal cord glutamate transport capacity and reduced sensitivity to riluzole in a transgenic superoxide dismutase mutant rat model of amyotrophic lateral sclerosis". J. Neurosci., 23, 1688-1696
54. Dupre, N.; Gros-Louis, F.; Chrestian, N.; Verreault, S.; Brunet, D.; de Verteuil, D.; Brais, B.; Bouchard, J.-P.; Rouleau, G. A. (2007) Clinical and genetic study of autosomal recessive cerebellar ataxia type 1. Ann. Neurol, 62, 93-98.
55. Efthimiopoulos, S., Giompres, P., Valcana, T. (1991) Kinetics of dopamine and noradrenaline transport in synaptosomes from cerebellum, striatum and frontal cortex of normal and realer mice. J. Neurosci. Res., 29, 510-519
56. El-Khamisy, S.F., Saifi, G.M., Weinfeld, M., Johansson, F., Helleday, T., Lupski, J.R., Caldecott, K.W. (2005) Defective DNA single- strand break repair in spinocerebellar ataxia with axonal neuropathy-1. Nature, 434, 108-113
57. Espinós-Armero, C., González-Cabo, P., Palau- Martínez, F. (2005) Autosomal recessive cerebellar ataxias. Their classification, genetic features and pathophysiology. Neurology, 41, 409-422
58. Fatemi, S.H., Reutiman, T.J., Folsom, T.D., Sidwell, R.W. (2008) The role of cerebellar genes in pathology of autism and schizophrenia. Cerebellum, 7, 279-294
59. Fauchey, V., Jaber, M., Bloch, B., Le Moine, C. (2000) Dopamine control of striatal gene expression during development: relevance to knockout mice for the dopamine transporter. Eur. J. Neurosci., 12, 3415-3425
60. Fedele, E., Raiteri, M. (1999) In vivo studies of the cerebral glutamate receptor/NO/cGMP pathway. Prog. Neurobiol., 58, 89-120.
61. Fernandez, A.M., Gonzalez de la Vega, A.G., Planas, B., Torres- Aleman, I. (1999) Neuroprotective actions of peripherally administered insulin-like growth factor I in the injured olivo-cerebellar pathway. Eur. J. Neurosci., 11, 2019-2030
62. Filla, A., De Michele, G., Coppola, G., Federico, A., Vita, G., Toscano, A. Uncini, A., Pisanelli, P., Barone, P., Scarano, V., Perretti, A., Santoro, L., Monticelli, A., Cavalcanti, F., Caruso, G., Cocozza, S. (2000) Accuracy of clinical diagnostic criteria for Friedreich's ataxia. Mov. Disord., 15, 1255-1258.
63. Finsterer, J. (2009) Mitochondrial disorders, cognitive impairment and dementia. J. Neurol. Sci., [Epub ahead of print].
64. Flament, D., Hore, J. (1986) Movement and electromyographic disorders associated with cerebellar dysmetria. J. Neurophysiol., 55, 1221-1233
65. Fujigasaki, H., Martin, J.J., De Deyn, P.P., Camuzat, A., Deffond, D., Stevanin, G., Dermaut, B., Van Broeckhoven, C., Dürr, A., Brice, A. (2001) CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia. Brain, 124, 1939-1947
66. Gakh, O., Park, S., Liu, G., Macomber, L., Imlay, J., Ferreira G., Isaya, G. (2006) Mitochondrial iron detoxification is a primary function of frataxin that limits oxidative damage and preserves cell longevity. Hum. Mol. Genet., 15, 467-479.
67. Gatti, R.A., Boder, E., Vinters, H.V. Sparkes, R.S., Norman, A., Lange, K. (1991) Ataxia-telangiectasia: an interdisciplinary approach to pathogenesis. Medicine, 70, 99-117.
68. Gilad, S., Chessa, L., Khosravi, R., Russell, P., Galanty, Y., Piane, M., Gatti, R.A., Jorgensen, T. J., Shiloh, Y., Bar-Shira, A. (1998) Genotype-phenotype relationships in ataxia-telangiectasia and variants. Am. J. Hum. Genet., 62, 551-561.
69. Gilman, S., Wenning, G.K., Low, P.A., Brooks, D.J., Mathias, C.J., Trojanowski, J.Q., Wood, N.W., Colosimo, C., Dürr, A., Fowler, C.J., Kaufmann, H., Klockgether, T., Lees, A., Poewe, W., Quinn, N., Revesz, T., Robertson, D., Sandroni, P., Seppi, K., Vidailhet, M. (2008) Second consensus statement on the diagnosis of multiple system atrophy. Neurology, 71, 670-676.
70. Giompres, P., Delis, F. (2005) Dopamine transporters in the cerebellum of mutant mice. Cerebellum, 4, 105-111
71. Giros, B., Jaber, M., Jones, S.R., Wightman, R.M., Caron, M.G. (1996) Hyperlocomotion and indifference to cocaine and amphetamine in mice lacking the dopamine transporter. Nature, 379, 606-612
72. Goncalves, S., Paupe, V., Dassa, E., Rustin, P. (2008) Deferiprone targets aconitase: implication for Friedreich's ataxia treatment. BMC Neurol., 8, 20.
73. Goodkin, H.P., Thach, W.T. (2003) Cerebellar control of constrained and unconstrained movements. I. Nuclear inactivation. J. Neurophysiol., 89, 884-895
74. Gros-Louis, F.; Dupre, N.; Dion, P.; Fox, M. A.; Laurent, S.; Verreault, S.; Sanes, J. R.; Bouchard, J.-P.; Rouleau, G. A. (2007) Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. Nat. Genet., 39, 80-85.
75. Hadjivassiliou, M., Sanders, D.S., Woodroofe, N., Williamson, C., Grünewald, R.A. (2008) Gluten ataxia. Cerebellum, 7, 494-498.
76. Hall, C.N., Attwell, D. (2008) Assessing the physiological concentration and targets of nitric oxide in brain tissue. J. Physiol., 586, 3597-3615
77. Hauser, T.K., Luft, A., Skalej, M., Nägele, T., Kircher, T.T., Leube, D.T., Schulz, J.B. (2006) Visualization and quantification of disease progression in multiple system atrophy. Mov. Disord., 21, 1674-1681
78. Heneka, M., Landreth, G. (2007) PPARs in the brain. Biochim. Biophys. Acta, 1771, 1031-1045.
79. Heneka, M., Landreth, G., Hüll, M. (2007) Drug insight: effects mediated by peroxisome proliferator-activated receptorgamma in CNS disorders. Nat. Clin. Pract. Neurol., 3, 496-504.
80. Herman, D., Jenssen, K., Burnett, R., Soragni, E., Perlman, S., Gottesfeld, J. (2006) Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia. Nat. Chem. Biol. 2, 551-558.
81. Herrmann, A., Braathen, G.J., Russell, M.B. (2005) Episodic ataxias. Tidsskr. Nor. Laegeforen., 125, 2005-2007
82. Herrup, K., Kuemerle, B. (1997) The compartmentalization of the cerebellum. Annu. Rev. Neurosci., 20, 61-90.
83. Hirai, H. (2008) Progress in transduction of cerebellar Purkinje cells in vivo using viral vectors. Cerebellum, 7, 273-278
84. Hore, J., Wild, B., Diener, H.C. (1991) Cerebellar dysmetria at the elbow, wrist, and fingers. J. Neurophysiology., 65, 563-571
85. Hu, D., Shen, H., Zhou, Z. (2008) Functional asymmetry in the cerebellum: a brief review. Cerebellum, 7, 304-313
86. Huang, C. (2008) Implications on cerebellar function from information coding. Cerebellum, 7, 314-331
87. Huen, N.Y., Wong, S.L., Chan, H.Y. (2007) Transcriptional malfunctioning of heat shock protein gene expression in spinocerebellar ataxias. Cerebellum, 6, 111-117
88. Ige, A.O., Bolam, J.P., Billinton, A., White, J.H., Marshall, F.H., Emson, P.C. (2000) Cellular and sub-cellular localisation of GABA(B1) and GABA(B2) receptor proteins in the rat cerebellum. Mol. Brain Res., 83, 72-80.
89. Ikai, Y., Takada, M., Shinonaga, Y., Mizuno, N. (1992) Dopaminergic and non-dopaminergic neurons in the ventral tegmental area of the rat project, respectively, to the cerebellar cortex and deep cerebellar nuclei. Neuroscience, 51, 719-728
90. Ikeda, H., Yamaguchi, M., Sugai, S., Aze,Y., Narumiya, S., Kakizuka, A. (1996) Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo. Nat. Genet., 13, 196-202.
91. Iorio, K.R., Reinlib, L., Tabakoff, B., Hoffman, P.L. (1992) Chronic exposure of cerebellar granule cells to ethanol results in increased N-methyl-D-aspartate receptor function. Mol. Pharmacol., 41, 1142-1148
92. Iorio, K.R., Tabakoff, B., Hoffman, P.L. (1993) Glutamate-induced neurotoxicity is increased in cerebellar granule cells exposed chronically to ethanol. Eur. J. Pharmacol., 248, 209-212
93. Ito, Y., Arakawa, M., Ishige, K., Fukuda, H. (1999) Comparative study of survival signal withdrawal- and 4-hydroxynonenal-induced cell death in cerebellar granule cells. Neurosci. Res., 35, 321-327
94. Jaarsma, D., Ruigrok, T.J., Caffé, R., Cozzari, C., Levey, A.I., Mugnaini, E., Voogd, J. (1997) Cholinergic innervation and receptors in the cerebellum. Prog. Brain Res., 114, 67-96.
95. Jaatinen, P., Rintala, J. (2008) Mechanisms of ethanol-induced degeneration in the developing, mature, and aging cerebellum. Cerebellum, 7, 332-347
96. Jaber, M., Dumartin, B., Sagné, C., Haycock, J.W., Roubert, C., Giros, B., Bloch, B., Caron, M.G. (1999) Differential regulation of tyrosine hydroxylase in the basal ganglia of mice lacking the dopamine transporter. Eur. J. Neurosci., 11, 3499-3511
97. Jacquemont, S., Hagerman, R. J., Hagerman, P. J., Leehey, M. A. (2007) Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1. Lancet, 6, 45-55.
98. Jacquemont, S., Hagerman, R. J., Leehey, M., Grigsby, J., Zhang, L., Brunberg, J. A., Greco, C., Des Portes, V., Jardini, T., Levine, R., Berry-Kravis, E., Brown, W. T., Schaeffer, S., Kissel, J., Tassone, F., Hagerman, P. J. (2003) Fragile X premutation tremor/ ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am. J. Hum. Genet., 72, 869-878.
99. Jansen, G.A., Waterham, H.R., Wanders, R.J. (2004) Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7). Hum. Mutat., 23, 209-218
100. Jen , J.C. (2008) Hereditary episodic ataxias. Ann. N. Y. Acad. Sci., 1142, 250-253
101. Jen, J., Kim, G.W., Baloh, R.W. (2004) Clinical spectrum of episodic ataxia type 2. Neurology, 62,17-22.
102. Jen, J.C., Baloh, R.W. (2002) Genetics of episodic ataxia. Adv. Neurol., 89, 459-461
103. Jin, D., Liu, H.X., Hirai, H., Torashima, T., Nagai, T., Lopatina, O., Shnayder, N.A., Yamada, K., Noda, M., Seike, T., Fujita, K., Takasawa, S, Yokoyama, S., Koizumi, K., Shiraishi, Y., Tanaka, S., Hashii, M., Yoshihara, T., Higashida, K., Islam, M.S., Yamada, N., Hayashi, K., Noguchi, N., Kato, I., Okamoto, H., Matsushima, A., Salmina, A., Munesue, T., Shimizu, N., Mochida, S., Asano, M., Higashida, H. (2007) CD38 is critical for social behaviour by regulating oxytocin secretion. Nature, 446, 41-45
104. Karmon, Y., Inbar, E., Cordoba, M., Gadoth, N. (2009) Paraneoplastic Cerebellar Degeneration Mimicking Acute Post-Infectious Cerebellitis. Cerebellum. Epub ahead of print.
105. Kaupmann, K., Malitschek, B., Schuler, V., Heid, J., Froestl, W., Beck, P., Mosbacher, J., Bischoff, S., Kulik, A., Shigemoto ,R., Karschin, A., Bettler, B. (1998) GABA(B)-receptor subtypes assemble into functional heteromeric complexes. Nature, 396, 683-687
106. Keller, J.N., Mattson, M.P. (1998) Roles of lipid peroxidation in modulation of cellular signaling pathways, cell dysfunction, and death in the nervous system. Rev. Neurosci., 9, 105-116
107. Kelso, G., Porteous, C., Coulter, C., Hughes, G., Porteous, W., Ledgerwood, E., Smith, R.A., Murphy, M.P. (2001) Selective targeting of a redox-active ubiquinone to mitochondria within cells: antioxidant and antiapoptotic properties. J. Biol. Chem. 276, 4588-4596.
108. Klebe, S., Durr, A., Rentschler, A., Hahn-Barma, V., Abele, M., Bouslam, N., Schöls, L., Jedynak, P., Forlani, S., Denis, E., Dussert, C., Agid, Y., Bauer, P., Globas, C., Wüllner, U., Brice, A., Riess, O., Stevanin, G. (2005) New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14. Ann. Neurol., 58, 720-729
109. Klenk, E., Kahlke, W. (1963) Ueber das Vorkommen der Hoppe, Seylers, Z. 3.7.11.15-tetramethyl-hexadecansaeure (Phytansaeure) in den Cholesterinestern und anderen Lipoidfraktionen der Organe bei einem Krankheitsfall unbekannter Genese (Verdacht auf heredopathia atactica polyneuritiformis Refsum-syndrom). Physiol. Chem., 333, 133-142.
110. Klimaviciusa, L., Safiulina, D., Kaasik, A., Klusa, V., Zharkovsky, A. (2008) The effects of glutamate receptor antagonists on cerebellar granule cell survival and development. Neurotoxicology, 29, 101-108
111. Klitenick, M.A., Tham, C.S., Fibiger, H.C. (1995) Cocaine and damphetamine increase c-fos expression in the rat cerebellum. Synapse, 19, 29-36.
112. Klockgether, T., Bürk, K., Auburger, G., Dichgans, J. (1995) Classification and diagnosis of degenerative ataxias. Nervenarzt., 66, 571-581
113. Klockgether, T., Skalej, M., Wedekind, D., Luft, A.R., Welte, D., Schulz, J.B., Abele, M., Bürk, K., Laccone, F., Brice, A., Dichgans, J. (1998) Autosomal dominant cerebellar ataxia type I. MRI-based volumetry of posterior fossa structures and basal ganglia in spinocerebellar ataxia types 1, 2 and 3. Brain, 121, 1687-1693
114. Klockgether, T. (2008) The clinical diagnosis of autosomal dominant spinocerebellar ataxias. Cerebellum, 7, 101-105.
115. Koenig, M., Sirugo, G., Duclos, F. (1993) Molecular genetics and familial ataxia. Rev. Neurol., 149, 698-702.
116. Koibuchi, N. (2008) Hormonal regulation of cerebellar development and plasticity. Cerebellum, 7, 1-3.
117. Kosuge, Y., Koen, Y., Ishige, K., Minami, K., Urasawa, H., Saito, H., Ito, Y. (2003) S-allyl-L-cysteine selectively protects cultured rat hippocampal neurons from amyloid b-protein- and tunicamycininduced neuronal death. Neuroscience, 122, 885-895
118. Kulik, A., Nakadate, K., Nyíri, G., Notomi, T., Malitschek, B., Bettler, B., Shigemoto, R. (2002) Distinct localization of GABA(B) receptors relative to synaptic sites in the rat cerebellum and ventrobasal thalamus. Eur. J. Neurosci., 15, 291-307.
119. Kumar, S., Fleming, R.L., Morrow, A.L. (2004) Ethanol regulation of gamma-aminobutyric acid A receptors: genomic and nongenomic mechanisms. Pharmacol. Ther., 101, 211-226
120. Kutz, K., Drewe, J., Vankan, P. (2009) Pharmacokinetic properties and metabolism of idebenone. J. Neurol., 1, 31-35
121. Lalonde, R. (1994) Cerebellar contributions to instrumental learning. Neurosci. Biobehav. Rev., 18, 161-170
122. Lamperti, C., Naini, A., Hirano, M., De, Vivo, D.C., Bertini, E., Servidei, S., Valeriani, M., Lynch, D., Banwell, B., Berg, M., Dubrovsky, T., Chiriboga, C., Angelini, C., Pegoraro, E., Di Mauro, S. (2003) Cerebellar ataxia and coenzyme Q10 deficiency. Neurology, 60, 1206-1208
123. Isabelle, Le B., Naïma, B., Rivaud-Péchoux, S., Guimarães, J., Benomar, A., Chamayou, C., Goizet, C., Maria-Ceù, M., Sandra, K., Mohamed, Y., Yves, A., Michel, K., Giovanni, S., Alexis, B., Alexandra, D. (2004) Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients. Brain, 127, 759-767.
124. Lee, M., Martin-Ruiz, C., Graham, A., Court, J., Jaros, E., Perry, R., Iversen, P., Bauman, M., Perry, E., Iversen, P., Bauman, M., Perry, E. (2002) Nicotinic receptor abnormalities in the cerebellar cortex in autism. Brain, 125, 1483-1495
125. Leggio, M.G., Neri, P., Graziano, A., Mandolesi, L., Molinari, M., Petrosini, L. (1999) Cerebellar contribution to spatial event processing: characterization of procedural learning. Exp. Brain Res., 127, 1-11.
126. Leys, D., Petit, H., Bonte-Adnet, C., Millaire, A., Fourrier, F., Dubois, F., Rousseaux, M., Ducloux, G. (1989) Refsum's disease revealed by cardiac disorders. Lancet, 333, 621.
127. Li, K., Besse, E., Ha, D., Kovtunovych, G., Rouault, T. (2008) Iron dependent regulation of frataxin expression: implications for treatment of Friedreich ataxia. Hum. Mol. Genet., 17, 2265-2273.
128. Lönnqvist, T., Paetau, A., Valanne, L., Pihko, H. (2009) Recessive twinkle mutations cause severe epileptic encephalopathy. Brain, 132, 1553-1562
129. Lovinger, D.M. (1993) Excitotoxicity and alcohol-related brain damage. Alcohol Clin. Exp. Res., 17, 19-27.
130. Luján, R. (2007) Subcellular regulation of metabotropic GABA receptors in the developing cerebellum. Cerebellum, 6, 123-129
131. Maffei, A., Prestori, F., Shibuki, K., Rossi, P., Taglietti, V., D'Angelo, E. (2003) NO enhances presynaptic currents during cerebellar mossy fiber-granule cell LTP. J. Neurophysiol., 90, 2478-2483
132. Manto, M. (2008) The cerebellum, cerebellar disorders, and cerebellar research - two centuries of discoveries. Cerebellum, 7, 505-516
133. Manto, M., Bastian, A.J. (2007) Cerebellum and the deciphering of motor coding. Cerebellum, 6, 3-6.
134. Manto, M., Laute, M.A., Pandolfo, M. (2005) Depression of extracellular GABA and increase of NMDA-induced nitric oxide following acute intra-nuclear administration of alcohol in the cerebellar nuclei of the rat. Cerebellum, 4, 230-238
135. Manto, M., Marmolino, D. (2009) Cerebellar ataxias. Curr. Opin. Neurol., 5, [Epub ahead of print].
136. Manto, M.U. (2005) The wide spectrum of spinocerebellar ataxias (SCAs). Cerebellum, 4, 2-6.
137. Manto, M.U., Laute, M.A., Aguera, M., Rogemond, V., Pandolfo, M., Honnorat, J. (2007) Effects of anti-glutamic acid decarboxylase antibodies associated with neurological diseases. Ann. Neurol., 61,544-551
138. Mariotti, C., Di Donato, S. (2001) Cerebellar/spinocerebellar syndromes. Neurol. Sci., 22, S88-92.
139. Mariotti, C., Solari, A., Torta, D., Marano, L., Fiorentini, C., Di Donato, S. (2003) Idebenone treatment in Friedreich patients: one-year-long randomized placebo-controlled trial. Neurology, 60, 1676-1679
140. Marmolino, D., Acquaviva, F. (2009) Friedreich's Ataxia: From the (GAA)(n) Repeat Mediated Silencing to New Promising Molecules for Therapy. Cerebellum, [Epub ahead of print].
141. Marmolino, D., Acquaviva, F., Pinelli, M., Monticelli, A., Castaldo, I., Filla, A., Cocozza, S. (2008) PPAR-gamma agonist azelaoyl PAF increases frataxin protein and mRNA expression. New implications for the Friedreich's ataxia theraphy. Cerebellum, 23, (PMID: 19104905).
142. Matsuura, T., Yamagata, T., Burgess, D.L., Rasmussen, A., Grewal, R.P., Watase, K., Khajavi, M., McCall, A.E., Davis, C.F., Zu, L., Achari, M., Pulst, S.M., Alonso, E., Noebels, J.L., Nelson, D.L., Zoghbi, H.Y., Ashizawa, T. (2000) Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nat. Genet., 26, 191-194.
143. Mehta, S.H., Morgan, J.C., Sethi, K.D. (2009) Paraneoplastic movement disorders. Curr. Neurol. Neurosci. Rep., 9, 285-291
144. Meier, T., Buyse G. (2009) Idebenone: an emerging therapy for Friedreich ataxia. J. Neurol., 1, 25-30.
145. Melberg, A., Dahl, N., Hetta, J., Valind, S., Nennesmo, I., Lundberg, P.O., Raininko, R. (1999) Neuroimaging study in autosomal dominant cerebellar ataxia, deafness, and narcolepsy. Neurology, 10, 2190-2192
146. Melchitzky, D.S., Lewis, D.A. (200) Tyrosine hydroxylase- and dopamine transporter-immunoreactive axons in the primate cerebellum. Evidence for a lobular- and laminar-specific dopamine innervation. Neuropsychopharmacology, 22, 466-472
147. Miyoshi, Y., Yamada, T., Tanimura, M., Taniwaki, T., Arakawa, K., Ohyagi, Y., Furuya, H., Yamamoto, K., Sakai, K., Sasazuki, T., Kira, J. (2001) A novel autosomal dominant spinocerebellar ataxia (SCA16) linked to chromosome 8q22.1-24.1. Neurology, 57, 96-100.
148. Mollet, J., Giurgea, I., Schlemmer, D., Dallner, G., Chretien, D., Delahodde, A., Bacq, D., de Lonlay, P., Munnich, A., Rötig, A. (2007) Prenyldiphosphate synthase, subunit 1 (PDSS1) and OHbenzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. J. Clin. Invest., 117, 765-772.
149. Montalvo, A., Filocamo, M., Vlahovicek, K., Dardis, A., Lualdi, S., Corsolini, F., Bembi, B., Pittis, M.G. (2005) Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles. Hum. Mutat., 26, 2-8.
150. Montero, R., Pineda, M., Aracil, A., Vilaseca, M.A., Briones, P., Sánchez-Alcázar, J.A., Navas, P., Artuch, R. (2007) Clinical, biochemical and molecular aspects of cerebellar ataxia and Coenzyme Q10 deficiency. Cerebellum, 6, 118-122.
151. Mori, M., Kuwabara, S., Fukutake, T., Hattori, T. (2007) Intravenous immunoglobulin therapy for Miller-Fisher syndrome. Neurology, 68, 1144-1146.
152. Mount, H.T., Dean, D.O., Alberch, J., Dreyfus, C.F., Black, I.B. Glial cell line-derived neurotrophic factor promotes the survival and morphologic differentiation of Purkinje cells. (1995) Proc. Natl. Acad. Sci., 92, 9092-9096
153. Netzeband, J.G., Trotter, C., Caguioa, J.N., Gruol, DL. (1999) Chronic ethanol exposure enhances AMPA-elicited Ca2+ signals in the somatic and dendritic regions of cerebellar Purkinje neurons. Neurochem. Int., 35, 163-174
154. Nikali, K., Suomalainen, A., Saharinen, J., Kuokkanen, M., Spelbrink, J.N., Lönnqvist, T., Peltonen, L. (2005) Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky. Hum. Mol. Genet., 14, 2981-2990
155. Nukina, N. (2008) Pathomechanism of polyglutamine diseases and strategic design for their therapies. Rinsho Shinkeigaku, 48, 913-914
156. Oberdick, J., Baader, S.L., Schilling, K. (1998) From zebra stripes to postal zones: deciphering patterns of gene expression in the cerebellum. Trends Neurosci., 21, 383-390
157. Ogasawara, H., Doi, T., Kawato, M. (2008) Systems biology perspectives on cerebellar long-term depression. Neurosignals, 16, 300-317
158. Ohata, T., Yoshida, K., Sakai, H., Hamanoue, H., Mizuguchi, T., Shimizu, Y., Okano, T., Takada, F., Ishikawa, K., Mizusawa, H., Yoshiura, K., Fukushima, Y., Ikeda, S., Matsumoto, N. (2006) A- 16C>T substitution in the 5′ UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano. J. Hum. Genet., 51, 461-466
159. Orr, H., Zoghbi, H. (2007) Trinucleotide Rev. Neurosci., 30, 575-621.
160. Palau, F., Espinós, C. (2006) Autosomal recessive cerebellar ataxias. Orphanet. J. Rare Dis. 1, 47.
161. Panagopoulos, N.T., Matsokis, N.A., Valcana, T. (1993) Cerebellar and striatal dopamine receptors: effects of reeler and weaver murine mutations. J. Neurosci. Res., 35, 499-506.
162. Panagopoulos, N.T., Papadopoulos, G.C., Matsokis, N.A. (1991) Dopaminergic innervation and binding in the rat cerebellum. Neurosci. Lett., 130, 208-212
163. Phillips, S.C., Harper, C.G., Kril, J. (1987) A quantitative histological study of the cerebellar vermis in alcoholic patients. Brain, 110, 301-314
164. Pineda, M., Arpa, J., Montero, R., Aracil, A., Domínguez, F.,
165. Poretti, A., Wolf, N.I., Boltshauser, E. (2008) Differential diagnosis of cerebellar atrophy in childhood. Eur. J. Paediatr. Neurol., 12, 155-167
166. Potts, M.B., Adwanikar, H., Noble-Haeusslein, L.J. (2009) Models of Traumatic Cerebellar Injury. Cerebellum, 5, [Epub ahead of print].
167. Puccio, H. (2009) Multicellular models of Friedreich ataxia. J. Neurol., 1, 18-24.
168. Ramachandran, V., Perez, A., Chen, J., Senthil, D., Schenker, S., Henderson, G.I. (2001) In utero ethanol exposure causes mitochondrial dysfunction, which can result in apoptotic cell death in fetal brain: a potential role for 4-hydroxynonenal. Alcohol. Clin. Exp. Res., 25, 862-871
169. Riant, F., Mourtada, R., Saugier-Veber, P., Tournier-Lasserve, E. (2008) Large CACNA1A deletion in a family with episodic ataxia type 2. Arch. Neurol., 65, 817-820.
170. Richardson, D. (2003) Friedreich's ataxia: iron chelators that target the mitochondrion as a therapeutic strategy? Expert. Opin. Investig. Drugs, 12, 235-245.
171. Richter, B., Bandeira-Echtler, E., Bergerhoff, K., Clar, C., Ebrahim, S. (2006) Pioglitazone for type 2 diabetes mellitus. Cochrane Database Syst. Rev., 4, CD006060.
172. Richter, B., Bandeira-Echtler, E., Bergerhoff, K., Clar, C., Ebrahim, S. (2007) Rosiglitazone for type 2 diabetes mellitus. Cochrane Database Syst. Rev., 3, CD006063.
173. Riess, O., Rüb, U., Pastore, A., Bauer, P., Schöls, L. (2008) SCA3: neurological features, pathogenesis and animal models. Cerebellum, 7, 125-137
174. Riessland, M., Brichta, L., Hahnen, E., Wirth, B. (2006) The benzamide M344, a novel histone deacetylase inhibitor, significantly increases SMN2 RNA/protein levels in spinal muscular atrophy cells. Hum. Genet., 120, 101-110.
175. Ritvo, E.R., Freeman, B.J., Scheibel, A.B., Duong, T., Robinson, H., Guthrie, D., Ritvo, A. (1986) Lower Purkinje cell counts in the cerebella of four autistic subjects: initial findings of the UCLA-NSAC Autopsy Research Report. Am. J. Psychiatry, 143, 862-866
176. Rosenberg, G. (2007) "The mechanisms of action of valproate in neuropsychiatric disorders: can we see the forest for the trees?" Cell Mol. Life Sci., 64, 2090.
177. Rustin, P., Von Kleist-Retzow, J., Chantrel-Groussard, K., Sidi, D., Munnich, A., Rötig, A. (1999) Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study. Lancet, 354, 477-479.
178. Sakai, T., Yasunobu, A., Matsuishi, T., Iwashita, H. (1996) Tetrahydrobiopterin double-blind, crossover trial in Machado-Joseph disease. J. Neurol. Sci., 136, 71-72
179. Sánchez-Olea, R., Morales M, M., Morán, J., Pasantes-Morales, H. (1995) Inhibition by dihydropyridines of regulatory volume decrease and osmolyte fluxes in cultured astrocytes is unrelated to extracellular calcium. Neurosci. Lett., 193, 165-168
180. Sander, H.W., Magda, P., Chin, R.L., Wu, A., Brannagan, T.H. 3rd, Green, P.H., Latov, N. (2003) Cerebellar ataxia and coeliac disease. Lancet, 362, 1548.
181. Schmahmann, J.D. (2004) Disorders of the cerebellum: ataxia, dysmetria of thought, and the cerebellar cognitive affective syndrome. J. Neuropsychiatry Clin. Neurosci, 16, 367-378
182. Schmahmann, J.D., Pandya, D.N. (2008) Disconnection syndromes of basal ganglia, thalamus, and cerebrocerebellar systems. Cortex. 44, 1037-1066
183. Schoenfeld, R., Napoli, E., Wong, A., Zhan, S., Reutenauer, L., Morin, D., Buckpitt, A.R., Taroni, F., Lonnerdal, B., Ristow, M., Puccio, H., Cortopassi, G.A. (2005) Frataxin deficiency alters heme pathway transcripts and decreases mitochondrial heme metabolites in mammalian cells. Hum. Mol. Genet., 14, 3787-3799.
184. Schöls, L., Bauer, P., Schmidt, T., Schulte, T., Riess, O. (2004) Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol., 3, 291-304.
185. Schook, L.B, Kuzmuk, K., Adam, S., Rund, L., Chen, K., Rogatcheva, M., Mazur, M., Pollock, C., Counter, C. (2008) DNA-based animal models of human disease: from genotype to phenotype. Dev. Biol., 132, 15-25.
186. Schuelke, M., Mayatepek, E., Inter, M., Becker, M., Pfeiffer, E., Speer, A., Hubner, C., Finckh, B. (1999) Treatment of ataxia in isolated vitamin E deficiency caused by alpha-tocopherol transfer protein deficiency. J. Pediatr., 134, 240-244.
187. Schulte, T., Mattern, R., Berger, K., Szymanski, S., Klotz, P., Kraus, P.H., Przuntek, H., Schols, L. (2002) Double-blind cross-over trial of trmethoprim-sulfamethoxazole in spinocerebellar ataxia type 3. Arch. Neurol., 59, 1044-1045
188. Schulz, J.B., Boesch, S., Bürk, K., Dürr, A., Giunti, P., Mariotti, C., Pousset, F., Schöls, L., Vankan, P., Pandolfo, M. (2009) Diagnosis and treatment of Friedreich ataxia: a European perspective. Nat. Rev. Neurol., 5, 222-234
189. Schweighofer, N., Doya, K., Kuroda, S. (2004) Cerebellar aminergic neuromodulation: towards a functional understanding. Brain Res., 44, 103-116
190. Selim, M., Drachman, D.A. (2001) Ataxia associated with Hashimoto's disease: progressive non-familial adult onset cerebellar degeneration with autoimmune thyroiditis. J. Neurol. Neurosurg. Psychiatry, 71, 81-87
191. Shen, Y., Mishra, R., Mani, S., Meiri, K.F. (2008) Both cellautonomous and cell non-autonomous functions of GAP-43 are required for normal patterning of the cerebellum in vivo. Cerebellum, 7, 451-466
192. Sillitoe, R.V., Marzban, H., Larouche, M., Zahedi, S., Affanni, J., Hawkes, R. (2005) Conservation of the architecture of the anterior lobe vermis of the cerebellum across mammalian species. Prog. Brain Res., 148, 283-297
193. Smirnov, D.A., Cheung, V.G. (2008) ATM gene mutations result in both recessive and dominant expression phenotypes of genes and microRNAs. Am. J. Hum. Genet., 83, 243-253
194. Smith, R., Porteous, C., Gane, A., Murphy, M. (2003) Delivery of bioactive molecules to mitochondria in vivo. Proc. Natl. Acad. Sci., 100, 5407-5412.
195. Sohn, Y., Breuer, W., Munnich, A., Cabantchik, Z. (2008) Redistribution of accumulated cell iron: a modality of chelation with therapeutic implications. Blood, 111, 1690-1716
196. Solodkin, A., Hlustik, P., Noll, D.C., Small, S.L. (2001) Lateralization of motor circuits and handedness during finger movements. Eur. J. Neurol., 8, 425-434
197. Song, J.H., Huang, C.S., Nagata, K., Yeh, J.Z., Narahashi, T. (1997) "Differential action of riluzole on tetrodotoxin-sensitive and tetrodotoxin-resistant sodium channels". J. Pharmacol. Exp. Ther,. 282, 707-714
198. Southam, E., Morris, R., Garthwaite, J. (1992) Sources and targets of nitric oxide in rat cerebellum. Neurosci. Lett., 137, 241-244
199. Stell, B.M., Rostaing, P., Triller, A., Marty, A. (2007) Activation of presynaptic GABA(A) receptors induces glutamate release from parallel fiber synapses. J. Neurosci., 27, 9022-9031
200. Stevanin, G., Brice, A. (2008) Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4). Cerebellum, 7, 170-178
201. Sturm, B., Stupphann, D., Kaun, C., Boesch, S., Schranzhofer, M., Wojta, J., Goldenberg, H., Scheiber-Mojdehkar, B. (2005) Recombinant human erythropoietin: effects on frataxin expression in vitro. Eur. J. Clin. Invest., 35, 711-717.
202. Szlago, M., Gallus, G. N., Schenone, A., Patiño, M.E., Sfaelo, Z., Rufa, A., Pozzo, P. Da, Cardaioli, E., Dotti, M. T., Federico, A. (2008) The first cerebrotendinous xanthomatosis family from Argentina: a new mutation in CYP27A1 gene. Neurology, 70, 402-404.
203. Tabbaa, S., Dlugos, C., Pentney, R. (1999) The number of granule cells and spine density on Purkinje cells in aged, ethanol-fed rats. Alcohol, 17, 253-260
204. Takei, A., Fukazawa, T., Hamada, T., Sohma, H., Yabe, I., Sasaki, H., Tashiro, K. (2004) Effects of tandospirone on '5-HT1A receptor associated symptoms' in patients withMachado-Joseph disease: An open label study. Clin. Neuropharmacol., 27, 9-13.
205. Takiyama, Y. (2007) Sacsinopathies: sacsin-related ataxia. Cerebellum., 1, 7.
206. Tanimura, A., Kawata, S., Hashimoto, K., Kano, M. (2009) Not glutamate but endocannabinoids mediate retrograde suppression of cerebellar parallel fiber to Purkinje cell synaptic transmission in young adult rodents. Neuropharmacology. [Epub ahead of print].
207. Thoma, P., Bellebaum, C., Koch, B., Schwarz, M., Daum, I. (2008) The cerebellum is involved in reward-based reversal learning. Cerebellum, 7, 433-443
208. Timmann, D., Brandauer, B., Hermsdörfer, J., Ilg, W., Konczak, J., Gerwig, M., Gizewski, E.R., Schoch, B. (2008) Lesion-symptom mapping of the human cerebellum. Cerebellum, 7, 602-606
209. Timmann, D., Lee, P., Watts, S., Hore, J. (2008) Kinematics of arm joint rotations in cerebellar and unskilled subjects associated with the inability to throw fast. Cerebellum, 7, 366-378
210. Tolbert, D.L., Clark, B.R. (2003) GDNF and IGF-I trophic factors delay hereditary Purkinje cell degeneration and the progression of gait ataxia. Exp. Neurol., 183, 205-219
211. Tonon, C., Lodi, R. (2008) Idebenone in Friedreich's ataxia. Expert Opin. Pharmacother., 9, 2327-2337.
212. Torvik, A. (1985) Two types of brain lesions in Wernicke's encephalopathy. Neuropathol. Appl. Neurobiol., 11, 179-190
213. Traiffort, E., Leurs, R., Arrang, J.M., Tardivel-Lacombe, J., Diaz, J., Schwartz, J.C., Ruat, M. (1994) Guinea pig histamine H1 receptor. I. Gene cloning, characterization, and tissue expression revealed by in situ hybridization. J. Neurochem., 62, 507-518
214. Trujillo-Martín, M.M., Serrano-Aguilar, P., Monton-Alvarez, F., Carrillo-Fumero, R. (2009) Effectiveness and safety of treatments for degenerative ataxias: a systematic review. Mov. Disord., 24, 1111-1124
215. Tsuji, S., Onodera, O., Goto, J., Nishizawa, M. (2008) Sporadic ataxias in Japan - a population-based epidemiological study. Study Group on Ataxic Diseases. Cerebellum, 7, 189-197
216. Tsutsui, K. (2008) Neurosteroids in the Purkinje cell: biosynthesis, mode of action and functional significance. Mol. Neurobiol., 37, 116-125
217. Tsutsui, K. (2008) Progesterone biosynthesis and action in the developing neuron. Endocrinology, 149, 2757-2761
218. Turgeon, S.M., Albin, R.L. (1993) Pharmacology, distribution, cellular localization, and development of GABAB binding in rodent cerebellum. Neuroscience, 55, 311-323
219. Underwood, B.R., Rubinsztein, D.C. (2008) Spinocerebellar ataxias caused by polyglutamine expansions: a review of therapeutic strategies. Cerebellum, 7, 215-221
220. Van de Warrenburg, B.P., Sinke, R.J., Kremer, B. (2005) Recent advances in hereditary spinocerebellar ataxias. J. Neuropathol. Exp. Neurol., 64, 171-180
221. Van Raamsdonk, J.M. (2006) Loss of function mutations in SIL1 cause Marinesco-Sjögren syndrome. Clin. Genet., 69, 399-400.
222. Vermeer, S., Meijer, R.P., Pijl, B.J., Timmermans, J., Cruysberg, J.R., Bos, M.M., Schelhaas, H.J., Van de Warrenburg, B.P., Knoers, N.V., Scheffer, H., Kremer, B. (2008) ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia. Neurogenetics, 9, 207-214
223. Verrips, A., Hoefsloot, L.H., Steenbergen, G.C.H., Theelen, J.P., Wevers, R., Gabreëls, F.J.M., van Engelen, B.G.M., van den Heuve, L.P.W.J. (2000) Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis. Brain, 123, 908-919.
224. Villanueva-Haba, V., Garcés-Sánchez, M., Bataller, L., Palau, F., Vílchez, J. (2001) Neuroimaging study with morphometric analysis of hereditary and idiopathic ataxia. Neurologia, 16, 105-111
225. Viscomi, M.T., Latini, L., Florenzano, F., Bernardi, G., Molinari, M. (2008) Minocycline attenuates microglial activation but fails to mitigate degeneration in inferior olive and pontine nuclei after focal cerebellar lesion. Cerebellum, 7, 401-405
226. Voutsinos, B., Dutuit, M., Reboul, A., Fevre-Montange, M., Bernard, A., Trouillas, P., Akaoka, H., Belin, M.F., Didier-Bazès, M. (1998) Serotoninergic control of the activity and expression of glial GABA transporters in the rat cerebellum. Glia, 23, 45-60.
227. Webb, T.I., Lynch, J.W. (2007) Molecular pharmacology of the glycine receptor chloride channel. Curr. Pharm. Des., 13, 2350-2367
228. Whitney, E.R., Kemper, T.L., Bauman, M.L., Rosene, D.L., Blatt, G.J. (2008) Cerebellar Purkinje cells are reduced in a subpopulation of autistic brains: a stereological experiment using calbindin-D28k. Cerebellum, 7, 406-416
229. Wieczorek, S., Arning, L., Alheite, I., Epplen, J.T. (2006) Mutations of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population. J. Hum. Genet., 51, 363-367
230. Wiklund, L., Toggenburger, G., Cuénod, M. (1984) Selective retrograde labelling of the rat olivocerebellar climbing fiber system with D-[3H]aspartate. Neuroscience, 13, 441-468
231. Wokke, J. (1996) "Riluzole". Lancet, 348, 795-799
232. Xiang, H., Lin, C., Ma, X., Zhang, Z., Bower, J.M., Weng, X., Gao, J.H. (2003) Involvement of the cerebellum in semantic discrimination: an fMRI study. Hum. Brain Mapp., 18, 208-214
233. Yabe I, Sasaki H, Yamashita I, Takei A, Tashiro K. (2001) Clinical trial of acetazolamide in SCA6, with assessment using the Ataxia Rating Scale and body stabilometry. Acta Neurol. Scand., 104(1), 44-47
234. Yabe, I., Sasaki, H., Yamashita, I., Takei, A., Fukazawa, T., Hamada, T., Tashiro, K. (2006) A clinical trial of acetazolamide for SCA 6. Clin. Neurol., 39, 793-799.
235. Yamashita, T., Ando, Y., Obayashi, K., Terazaki, H., Sakashita, N., Uchida, K., Ohama, E., Ando, M., Uchino, M. (2000) Oxidative injury is present in Purkinje cells in patients with olivopontocerebellar atrophy. J. Neurol. Sci., 175, 107-110
236. Yiş, U., Kurul, S.H., Cakmakçi, H., Dirik, E. (2008) Acute cerebellitis with cerebellar swelling successfully treated with standard dexamethasone treatment. Cerebellum, 7, 430-432
237. Zahniser, N.R., Doolen, S. (2001) Chronic and acute regulation of Na+/Cl- -dependent neurotransmitter transporters: drugs, substrates, presynaptic receptors, and signaling systems. Pharmacol. Ther., 92, 21-55.
238. Zeviani, M. (2001) The expanding spectrum of nuclear gene mutations in mitochondrial disorders. Semin. Cell Dev. Biol., 12, 407-416.
239. Zühlke, C., Bürk, K. (2007) Spinocerebellar ataxia type 17 is caused by mutations in the TATA-box binding protein. Cerebellum, 6, 300-307.