An update on inherited ataxias

Current Neurology and Neuroscience Reports

Volumn 8, Issue 4, 2008, Pages 310-319

  Schmitz Hübsch, Tanja ^b   Klockgether, Thomas ^a  

^a UNIVERSITY HOSPITAL BONN   (Germany)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA TOCOPHEROL; ANTIOXIDANT; ATAXIN 1; ATAXIN 3; ATAXIN 7; ATM PROTEIN; BETA N ACETYLHEXOSAMINIDASE A; CEREBROSIDE SULFATASE; CHOLESTANETRIOL 26 MONOOXYGENASE; COMPLEMENTARY DNA; DNA DIRECTED DNA POLYMERASE GAMMA; FIBROBLAST GROWTH FACTOR 14; FRATAXIN; HISTONE DEACETYLASE INHIBITOR; IDEBENONE; MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN; PENTAMIDINE; PHOSPHATIDYLINOSITOL 3 KINASE; POLYGLUTAMINE; PROTEIN KINASE C GAMMA; RAPAMYCIN; SPECTRIN; UBIDECARENONE; DRUG DERIVATIVE; UBIQUINONE;

ATAXIA; ATAXIA TELANGIECTASIA; CEREBELLAR ATAXIA; CLINICAL ASSESSMENT; CLINICAL FEATURE; CLINICAL TRIAL; DRUG BINDING SITE; DRUG MEGADOSE; FRIEDREICH ATAXIA; GENE DELIVERY SYSTEM; GENE LOCUS; GENETIC DISORDER; GENETIC SUSCEPTIBILITY; HEREDITARY ATAXIA; HUMAN; MISSENSE MUTATION; MOLECULAR CLONING; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; NONHUMAN; REVIEW; SIGNAL TRANSDUCTION; SPINOCEREBELLAR DEGENERATION; TRANSCRIPTION REGULATION; GENETICS;

ANTIOXIDANTS; ATAXIA; HUMANS; UBIQUINONE;

EID: 53449091103     PISSN: 15284042     EISSN: None     Source Type: Journal    
DOI: 10.1007/s11910-008-0048-4     Document Type: Review

References (77)

1. Jen JC, Graves TD, HDss EJ, et al.: Primary episodic ataxias: diagnosis, pathogenesis and treatment. Brain 2007, 130:2484-2493.
2. Soong BW, Paulson HA: Spinocerebellar ataxias: an update. Curr Opin Neurol 2007, 20:438-446.
3. Jacquemont S, Hagerman RJ, Leehey MA, et al.: Penetrance of the fragile X-associated tremor/ataxia syndrome in a permutation carrier population. JAMA 2004, 291:460-469.
4. Fogel BL, Perlman S: Clinical features and molecular genetics of autosomal recessive cerebellar ataxias. Lancet Neurol 2007, 6:245-257.
5. Gueven N, Chen P, Nakamura J, et al.: A subgroup of spinocerebellar ataxias defective in DNA damage responses. Neuroscience 2007, 145:1418-1425.
6. Gomez CM: ARSACS goes global. Neurology 2004, 62:10-11.
7. Fink JK: Hereditary spastic paraplegia. Curr Neurol Neurosci Rep 2006, 6:65-76.
8. Thiffault I, Rioux MF, Tetreault M, et al.: A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34. Brain 2006, 129:2332-2340.
9. Bouslam N, Bouhouche A, Benomar A, et al.: A novel locus for autosomal recessive spastic ataxia on chromosome 17p. Hum Genet 2007, 121:413-420.
10. Breedveld GJ, van Wetten B, te Raa GD, et al.: A new locus for a childhood onset, slowly progressive autosomal recessive spinocerebellar ataxia maps to chromosome 11p15. J Med Genet 2004, 41:858-866.
11. Knight MA, Gardner RJ, Bahlo M, et al.: Dominantly inherited ataxia and dysphonia with dentate calcification: Spinocerebellar ataxia type 20. Brain 2004, 127:1172-1181.
12. Verbeek DS, van de Warrenburg BP, Wesseling P, et al.: Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3. Brain 2004, 127: 2551-2557.
13. Stevanin G, Bouslam N, Thobois S, et al.: Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p. Ann Neurol 2004, 55:97-104.
14. Yu GY, Howell MJ, Roller MJ, et al.: Spinocerebellar ataxia type 26 maps to chromosome 19p13.3 adjacent to SCA6. Ann Neurol 2005, 57:349-354.
15. Cagnoli C, Mariotti C, Taroni F, et al.: SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2. Brain 2006, 129:235-242.
16. Van Goethem G, Luoma P, Rantamäki M, et al.: POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. Neurology 2004, 63:1251-1257.
17. Horvath R, Hudson G, Ferrari G, et al.: Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain 2006, 129:1674-1684.
18. Tzoulis C, Engelsen BA, Telstad W, et al.: The spectrum of clinical disease caused by the A467T and W748S POLG mutations: A study of 26 cases. Brain 2006, 129:1685-1692.
19. Nikali K, Suomalainen A, Saharinen J, et al.: Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky. Hum Mol Genet 2005, 14:2981-2990.
20. Hakonen AH, Heiskanen S, Juvonen V, et al.: Mitochondrial DNA polymerase W748S mutation: A common cause of autosomal recessive ataxia with ancient European origin. Am J Hum Genet 2005, 77:430-441.
21. Gros-Louis F, Dupré N, Dion P, et al.: Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. Nat Genet 2007, 39:80-85.
22. Abele M, Minnerop M, Urbach H, et al.: Sporadic adult onset ataxia of unknown etiology: A clinical, electrophysiological and imaging study. J Neurol 2007, 254:1384-1389.
23. Dupré N, Gros-Louis F, Chrestian N, et al.: Clinical and genetic study of autosomal recessive cerebellar ataxia type 1. Ann Neurol 2007, 62:93-98.
24. Ikeda Y, Dick KA, Weatherspoon MR, et al.: Spectrin mutations cause spinocerebellar ataxia type 5. Nat Genet 2006, 38:184-190.
25. Serra HG, Byam CE, Lande JD, et al.: Gene profiling links SCA1 pathophysiology to glutamate signaling in Purkinje cells of transegenic mice. Hum Mol Genet 2004, 13:2535-2543.
26. Zühlke C, Bernard V, Dalski A, et al.: Screening of the SPTBN2 (SCA5) gene in German SCA patients. J Neurol 2007, 254:1649-1652.
27. Ishikawa K, Toru S, Tsunemi T, et al.: An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5′ untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domains. Am J Hum Genet 2005, 77:280-296.
28. Flanigan K, Gardner K, Alderson K, et al.: Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): Clinical description and genetic localization to chromosome 16q22.1. Am J Hum Genet 1996, 59:392-399.
29. Hellenbroich Y, Gierga K, Reusche E, et al.: Spinocerebellar ataxia type 4 (SCA4): Initial pathoanatomical study reveals widespread cerebellar and brainstem degeneration. J Neural Transm 2006, 113:829-843.
30. Storey E, Gardner RJ, Knight MA, et al.: A new autosomal dominant pure cerebellar ataxia. Neurology 2001, 57:1913-1915.
31. Hara K, Fukushima T, Suzuki T, et al.: Japanese SCA families with an unusual phenotype linked to a locus over-lapping with SCA15 locus. Neurology 2004, 62:648-651.
32. van de Leemput J, Chandran J, Knight MA, et al.: Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. PLoS Genet 2007, 3:e108.
33. Iwaki A, Kawano Y, Miura S, et al.: Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16. J Med Genet 2008, 45: 32-35.
34. Waters MF, Minassian NA, Stevanin G, et al.: Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes. Nat Genet 2006, 38:447-451.
35. Houlden H, JOhnson J, Gardner-Thorpe C, et al.: Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11. Nat Genet 2007, 39:1434-1436.
36. Berry-Kravis E, Abrams L, Coffey SM, et al.: Fragile X-associated tremor/ ataxia syndrome clinical features, genetics, and testing guidelines. Mov Disord 2007, 22:2018-2030.
37. Grigsby J, Brega AG, Engle K, et al.: Cognitive profile of fragile X premutation carriers with and without fragile X-associated tremor/ataxia syndrome. Neuropsychology 2008, 22:48-60.
38. Hagerman RJ, Leavitt BR, Farzin F, et al.: Fragile-X-associated tremor/ ataxia syndrome (FXTAS) in females with the FMR1 premutation. Am J Hum Genet 2004, 74:1051-1056.
39. Taylor AM, Byrd PJ: Molecular pathology of ataxia telangiectasia. J Clin Pathol 2005, 58:1009-1015.
40. Alterman N, Fattal-Valevski A, Moyal L et al.: Ataxia-telangiectasia: mild neurological presentation despite null ATM mutation and severe cellular phenotype. Am J Med Genet A 2007, 143:1827-1834.
41. Difilippantonio S, Nussenzweig A: The NBS1-ATM connection revisited. Cell Cycle 2007, 6:2366-2370.
42. Hirano R, Interthal H, Huang C, et al.: Spinocerebellar ataxia with axonal neuropathy: Consequence of a Tdp1 recessive neomorphic mutation? EMBO J 2007, 26:4732-4743.
43. Quinzii CM, Kattah AG, Naini A, et al.: Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation. Neurology 2005, 64:539-541.
44. Takiyama Y: Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Neuropathology 2006, 26:368-375.
45. Engert JC, Bérubé P, Mercier J, et al.: ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF. Nat Genet 2000, 24:120-125.
46. Lorincz MT, Rainier S, Thomas D, Fink JK: Cerebrotendinous xanthomatosis: Possible higher prevalence than previously recognized. Arch Neurol 2005, 62:1459-1463.
47. Montalvo AL, Filocamo M, Vlahovicek K, et al.: Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: Detection of fourteen novel alleles. Hum Mutat 2005, 26:282.
48. Mihaylova V, Hantke J, Sinigerska I, et al.: Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation. Brain 2007, 130:1050-1061.
49. Brusse E, Maat-Kievit JA, van Swieten JC: Diagnosis and management of early-and late-onset cerebellar ataxia. Clin Genet 2007, 71:12-24.
50. Dürr A, Cossee M, Agid Y, et al.: Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med 1996, 335:1169-1175.
51. Lodi R, Tonon CF Calabrese V, Schapira AH: Friedreich's ataxia: from disease mechanisms to therapeutic interventions. Antioxid Redox Signal 2006, 8:438-443.
52. Richardson DR: Iriedreich's ataxia: iron chelators that target the mitochondrion as a therapeutic strategy? Expert Opin Investig Drugs 2003, 12:235-245.
53. Mariotti C, Solari A, Torta D, et al.: Idebenone treatment in Friedreich patients: One-year-long randomized placebo-controlled trial. Neurology 2003, 60:1676-1679.
54. Hart PE, Lodi R, Rajagopalan B, et al.: Antioxidant treatment of patients with Friedreich ataxia: Four-year follow-up. Arch Neurol 2005, 62:621-626.
55. Di Prospero NA, Baker A, Jeffries N, Fischbeck KH: Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: A randomised, placebo-controlled trial. Lancet Neurol 2007, 6:878-886.
56. Sturm B, Stupphann D, Kaun C, et al.: Recombinant human erythropoietin: effects on frataxin expression in vitro. Eur J Clin Invest 2005, 35:711-717.
57. Boesch S, SturmCB, Hering S, et al.: Friedreich's ataxia: clinical pilot trial with recombinant human erythropoietin. Ann Neurol 2007, 62:521-524.
58. Hebert MD, Whittom AA: Gene-based approaches toward Friedreich ataxia therapeutics. Cell Mol Life Sci 2007, 64:3034-3043.
59. Greene E, Mahishi L, Entezam A, et al.: Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia. Nucleic Acids Res 2007, 35:3383-3390.
60. Gomez-Sebastian S, Gimenez-Cassina A, Diaz-Nido J, et al.: Infectious delivery and expression of a 135 kb human FRDA genomic DNA locus complements Friedreich's ataxia deficiency in human cells. Mol Ther 2007, 15:248-254.
61. Lim F, Palomo GM, Mauritz C, et al.: Functional recovery in a Friedreich's ataxia mouse model by frataxin gene transfer using an HSV-1 amplicon vector. Mol Ther 2007, 15:1072-1078.
62. Hagerman PJ, HagermanARJ: The fragile-X premutation: a maturing perspective. Am J Hum Genet 2004, 74:805-816.
63. Sofola OA, Jin P, Botas J, Nelson DL: Argonaute-2-dependent rescue of a Drosophila model of FXTAS by FRAXE premutation repeat. Hum Mol Genet 2007, 16:2326-2332.
64. Dueñas AM, Goold R, Giunti P: Molecular pathogenesis of spinocerebellar ataxias. Brain 2006, 129:1357-1370.
65. Park Y, Hong S, Kim SJ, Kang S: Proteasome function is inhibited by polyglutamine-expanded ataxin-1, the SCA1 gene product. Mol Cells 2005, 19:23-30.
66. Muchowski PJ, Wacker JL: Modulation of neurodegeneration by molecular chaperones. Nat Rev Neurosci 2005, 6:11-22.
67. Berger Z, Ravikumar B, Menzies FM, et al.: Rapamycin alleviates toxicity of different aggregate-prone proteins. Hum Mol Genet 2006, 15:433-442.
68. Evert BO, Araujo J, Vieira-Saecker AM, et al.: Ataxin-3 represses transcription via chromatin binding, interaction with histone deacetylase 3, and histone deacetylation. J Neurosci 2006, 26:11474-11486.
69. Watase K, Gatchel JR, Sun Y, et al.: Lithium therapy improves neurological function and hippocampal dendritic arborization in a spinocerebellar ataxia type 1 mouse model. PLoS Med 2007, 4:e182.
70. Xia H, Mao Q, Eliason SL, et al.: RNAi suppresses polyglutamine-induced neurodegeneration in a model of spinocerebellar ataxia. Nat Med 2004, 10:816-820.
71. Kordasiewicz HB, Gomez CM: Molecular pathogenesis of spinocerebellar ataxia type 6. Neurotherapeutics 2007, 4:285-294.
72. Walter JT, Alviña K, Womack MD, et al.: Decreases in the precision of Purkinje cell pacemaking cause cerebellar dysfunction and ataxia. Nat Neurosci 2006, 9:389-397.
73. Lim J, Hao T, Shaw C, et al.: A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. Cell 2006, 125:801-814.
74. Humbert S,CSaudou F: The ataxia-ome: connecting disease proteins of the cerebellum. Cell 2006, 125:645-647.
75. Schmitz-Hübsch T, du Montcel ST, Baliko L, et al.: Scale for the assessment and rating of ataxia: Development of a new clinical scale. Neurology 2006, 66:1717-1720.
76. Schmitz-Hübsch T, Coudert M, Bauer P, et al.: Spinocerebellar ataxia type 1, 2, 3, and 6: Disease severity and non-ataxia symptoms. Neurology 2008 (in press).
77. Subramony SH, May W, Lynch D, et al.: Measuring Friedreich ataxia: interrater reliability of a neurologic rating scale. Neurology 2005, 64:1261-1262.