Spinocerebellar ataxia type 12

Handbook of Clinical Neurology

Volumn 103, Issue , 2012, Pages 535-547

  O'Hearn, Elizabeth ^a   Holmes, Susan E ^a   Margolis, Russell L ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 79961132975     PISSN: 00729752     EISSN: None     Source Type: Book Series    
DOI: 10.1016/B978-0-444-51892-7.00034-6     Document Type: Chapter

References (84)

1. Andres A.M., Soldevilla M., Lao O., et al. Comparative genetics of functional trinucleotide tandem repeats in humans and apes. J Mol Evol 2004, 59:329-339.
2. Bahl S., Virdi K., Mittal U., et al. Evidence of a common founder for SCA12 in the Indian population. Ann Hum Genet 2005, 69:1-7.
3. Barnes G.N., Slevin J.T., Vanaman T.C. Rat brain protein phosphatase 2A: an enzyme that may regulate autophosphorylated protein kinases. J Neurochem 1995, 64:340-353.
4. Bauman A.L., Apparsundaram S., Ramamoorthy S., et al. Cocaine and antidepressant-sensitive biogenic amine transporters exist in regulated complexes with protein phosphatase 2A. J Neurosci 2000, 20:7571-7578.
5. Beaulieu J.M., Sotnikova T.D., Marion S., et al. An Akt/beta-arrestin 2/PP2A signaling complex mediates dopaminergic neurotransmission and behavior. Cell 2005, 122(2):261-273.
6. Belmeguenai A., Hansel C. A role for protein phosphatases 1, 2A, and 2B in cerebellar long-term potentiation. J Neurosci 2005, 25:10768-10772.
7. Brusco A., Cagnoli C., Franco A., et al. Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1-3, 6 and 7 CAG expansions. J Neurol Jul 2002, 249(7):923-929.
8. Brusse E., de Koning I., Maat-Kievit A., et al. Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): a new phenotype. Mov Disord 2006, 21:396-401.
9. Ceulemans H., Bollen M. Functional diversity of protein phosphatase-1, a cellular economizer and reset button. Physiol Rev 2004, 84:1-39.
10. Chajry N., Martin P.M., Cochet C., et al. Regulation of p42 mitogen-activated-protein kinase activity by protein phosphatase 2A under conditions of growth inhibition by epidermal growth factor in A431 cells. Eur J Biochem 1996, 235:97-102.
11. Chen C.-M., Lane H.Y., Wu Y.R., et al. Expanded trinucleotide repeats in the TBP/SCA17 gene mapped to chromosome 6q27 are associated with schizophrenia. Schizophr Res 2005, 78:131-136.
12. Cholfin JA, Sobrido MJ, Perlman S, et al. The SCA12 mutation as a rare cause of spinocerebellar ataxia. Arch Neurol Nov 2001, 58(11):1833-1835.
13. Chung H., Brautigan D.L. Protein phosphatase 2A suppresses MAP kinase signalling and ectopic protein expression. Cell Signal 1999, 11:575-580.
14. Cohen P.T.W. Novel protein serine/threonine phosphatases: variety is the spice of life. Trends Biochem Sci 1997, 22:245-251.
15. Cohen P.T.W., Brewis N.D., Hughes V., et al. Protein serine/threonine phosphatases: an expanding family. FEBS Lett 1990, 268:355-359.
16. Cummings C.J., Zoghbi H.Y. Fourteen and counting: unraveling trinucleotide repeat diseases. Hum Mol Genet 2000, 9:909-916.
17. Dagda R.K., Zaucha J.A., Wadzinski B.E., et al. A developmentally regulated, neuron-specific splice variant of the variable subunit Bbeta targets protein phosphates 2A to mitochondria and modulates apoptosis. J Biol Chem 2003, 278:24976-24985.
18. Dragasević N.T., Culjković B., Klein C., et al. Frequency analysis and clinical characterization of different types of spinocerebellar ataxia in Serbian patients. Mov Disord 2006, 21:187-191.
19. Fujigasaki H., Verma I.C., Camuzat A., et al. SCA12 is a rare locus for autosomal dominant cerebellar ataxia: a study of an Indian family. Ann Neurol 2001, 49:117-121.
20. Gee C.E., Mansuy I.M. Protein phosphatases and their potential implications in neuroprotective processes. Cell Mol Life Sci 2005, 62:1120-1130.
21. Goedert M., Cohen E.S., Jakes R., et al. p42 MAP kinase phosphorylation sites in microtubule-associated protein tau are dephosphorylated by protein phosphatase 2A1. Implications for Alzheimer's disease. FEBS Lett 1992, 312:95-99.
22. Hagerman P.J., Hagerman R.J. Fragile X-associated tremor/ataxia syndrome (FXTAS). Ment Retard Dev Disabil Res Rev 2004, 10:25-30.
23. Hatano Y., Shima H., Haneji T., et al. Expression of PP2A B regulatory subunit beta isotype in rat testis. FEBS Lett 1993, 324:71-75.
24. Healy A.M., Zolnierowicz S., Stapleton A.E., et al. CDC55, a Saccharomyces cerevisiae gene involved in cellular morphogenesis: identification, characterization, and homology to the B subunit of mammalian type 2A protein phosphatase. Mol Cell Biol 1991, 11:5767-5780.
25. Hellenbroich Y., Schulz-Schaeffer W., Nitschke M.F., et al. Coincidence of a large SCA12 repeat allele with a case of Creutzfeld-Jacob disease. J Neurol Neurosurg Psychiatry 2004, 5(6):937-938.
26. Holmes S.E., O'Hearn E., McGinnis M.G., et al. Expansion of a novel CAG repeat in the 5' region of protein phosphatase 2A PR55B is associated with spinocerebellar ataxia type 12. Nat Genet 1999, 23:391-392.
27. Holmes S.E., Fujigasaki H., O'Hearn E., et al. Spinocerebellar ataxia type 12 (SCA12): additional evidence for a causative role of the CAG repeat expansion in PPP2R2B. Am Soc Hum Genet 2000, 67:200.
28. Holmes S.E., O'Hearn E., Brahmachari S.K., et al. Spinocerebellar ataxia 12 (SCA12). Genetics of Movement Disorders 2003, 121-132. Elsevier Science, New York. S.M. Pulst (Ed.).
29. Holmes S.E., O'Hearn E., Cortez-Apreza N., et al. Spinocerebellar ataxia 12 (SCA12). Genetic Instabilities and Neurological Diseases 2006, Elsevier Press, San Diego. (2nd edn). E. Wells, T. Ashizawa (Eds.).
30. Janssens V., Goris J. Protein phosphatase 2A: a highly regulated family of serine/threonine phosphatases implicated in cell growth and signaling. Biochem J 2001, 353:417-439.
31. Jiang H., Tang B., Xia K., et al. Spinocerebellar ataxia type 6 in mainland China: molecular and clinical features in four families. J Neurol Sci 2005, 236:25-29.
32. Kamibayashi C., Estes R., Lickteig R.L., et al. Comparison of heterotrimeric protein phosphatase 2A containing different B subunits. J Biol Chem 1994, 269:20139-20148.
33. Kinoshita N., Ohkura H., Yanagida M. Distinct, essential roles of type 1 and 2A protein phosphatases in the control of the fission yeast cell division cycle. Cell 1990, 63:405-415.
34. Kosik K.S. The molecular and cellular biology of tau. Brain Pathol 1993, 3:39-43.
35. Launey T., Endo S., Sakai R., et al. Protein phosphatase 2A inhibition induces cerebellar long-term depression and declustering of synaptic AMPA receptor. Proc Natl Acad Sci U S A 2004, 101:676-681.
36. Laurent C., Niehaus D., Bauche S., et al. CAG repeat polymorphisms in KCNN3 (HSKCa3) and PPP2R2B show no association or linkage to schizophrenia. Am J Med Genet B Neuropsychiatr Genet 2003, 116:45-50.
37. Lin X.H., Walter J., Scheidtmann K., et al. Protein phosphatase 2A is required for the initiation of chromosomal DNA replication. Proc Natl Acad Sci U S A 1998, 95:14693-14698.
38. McCright B., Rivers A.M., Audlin S., et al. The B56 family of protein phosphatase 2A (PP2A) regulatory subunits encodes differentiation-induced phosphoproteins that target PP2A to both nucleus and cytoplasm. J Biol Chem 1996, 271:22081-22089.
39. Maruyama H, Izumi Y, Morino H, et al. Am J Med Genet Jul 8; 2002, 114(5):578-583.
40. Matsumura R., Futamura N., Ando N., et al. Frequency of spinocerebellar ataxia mutations in the Kinki district of Japan. Acta Neurol Scand Jan 2003, 107(1):38-41.
41. Mayer R.E., Hendrix P., Cron P., et al. Structure of the 55-kDa regulatory subunit of protein phosphatase 2A: evidence for a neuronal-specific isoform. Biochemistry 1991, 30:589-597.
42. Mayer-Jaekel R.E., Hemmings B.A. Protein phosphatase 2A - a "ménage a trois" Trends Cell Biol 1994, 4:287-291.
43. Mayer-Jaekel R.E., Okhura H., Gomes R., et al. The 55 kd regulatory subunit of Drosophila protein phosphatase 2A is required for anaphase. Cell 1993, 72:621-633.
44. Merrick S.E., Trojanowski J.Q., Lee V.M. Selective destruction of stable microtubules and axons by inhibitors of protein serine/threonine phosphatases in cultured human neurons. J Neurosci 1997, 17:5726-5737.
45. Millward T.A., Zolnierowicz S., Hemmings B.A. Regulation of protein kinase cascades by protein phosphatase 2A. Trends Biochem Sci 1999, 24:186-191.
46. Mulkey R.M., Endo S., Shenolikar S., et al. Involvement of a calcineurin/inhibitor-1 phosphatase cascade in hippocampal long-term depression. Nature 1994, 369:486-488.
47. Nakada N., Kuroda K., Kawahara E. Protein phosphatase 2A regulatory subunit Bbeta promotes MAP kinase-mediated migration of A431 cells. Cell Physiol Biochem 2005, 15:19-28.
48. Nicoletti G., Annesi G., Carrideo S., et al. Familial essential tremor is not associated with SCA-12 mutation in southern Italy. Mov Disord 2002, 17(4):837-838.
49. O'Hearn E. SCA12. Movement Disorders: 100 Instructive Cases 2006, Elsevier, Philadelphia. S. Reich (Ed.).
50. O'Hearn E. Inherited cerebellar ataxia. Current Therapy in Neurologic Disease 2006, 295-302. Mosby Elsevier, Philadelphia, PA. (7th edn). R.T. Johnson, J.W. Griffin, J.C. McArthur (Eds.).
51. O'Hearn E., Holmes S.E., Calvert P.C., et al. SCA-12: tremor with cerebellar and cortical atrophy is associated with a CAG repeat expansion. Neurology 2001, 56:299-303.
52. O'Hearn E., Pletnikova O., Holmes S.E., et al. SCA12 neuropathology: cerebral cortical and cerebellar atrophy, Purkinje cell loss, and neuronal intranuclear inclusions. Mov Disord 2004, 19:1124.
53. Price N.E., Mumby M.C. Brain protein serine/threonine phosphatases. Curr Opin Neurobiol 1999, 9:336-342.
54. Price N.E., Wadzinski B., Mumby M.C. An anchoring factor targets protein phosphatase 2A to brain microtubules. Mol Brain Res 1999, 73:68-77.
55. Ruvolo P.P., Clark W., Mumby M., et al. A functional role for the B56 alpha-subunit of protein phosphatase 2A in ceramide-mediated regulation of Bcl2 phosphorylation status and function. J Biol Chem 2002, 277:22847-22852.
56. Saito T., Shima H., Osawa Y., et al. Neurofilament-associated protein phosphatase 2A: its possible role in preserving neurofilaments in filamentous states. Biochemistry 1995, 34:7376-7384.
57. Sanchez C., Tompa P., Szucs K., et al. Phosphorylation and dephosphorylation in the proline-rich C-terminal domain of microtubule-associated protein 2. Eur J Biochem 1996, 241:765-771.
58. Satoh J., Yamamura T. Gene expression profile following stable expression of the cellular prion protein. Cell Mol Neurobiol 2004, 24:793-814.
59. Schmidt K., Kins S., Schild A., et al. Diversity, developmental regulation and distribution of murine PR55/B subunits of protein phosphatase 2A. Eur J Neurosci 2002, 16:2039-2048.
60. Schöls L., Szymanski S., Peters S., et al. Genetic background of apparently idiopathic sporadic cerebellar ataxia. Hum Genet 2000, 107(2):132-137.
61. Silveira I., Miranda C., Guimarães L., et al. Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus. Arch Neurol 2002, Apr; 59(4):623-629.
62. Silverstein A.M., Barrow C.A., Davis A.J., et al. Actions of PP2A on the MAP kinase pathway and apoptosis are mediated by distinct regulatory subunits. Proc Natl Acad Sci U S A 2002, 99:4221-4226.
63. Sinha KK, Worth PF, Jha DK, et al. Autosomal dominant cerebellar ataxia: SCA2 is the most frequent mutation in eastern India. J Neurol Neurosurg Psychiatry Mar; 2004, 75(3):448-452.
64. Sontag E., Nunbhakdi-Craig V., Lee G., et al. Regulation of the phosphorylation state and microtubule-binding activity of tau by protein phosphatase 2A. Neuron 1996, 17:1201-1207.
65. Sontag E., Nunbhakdi-Craig V., Lee G., et al. Molecular interactions among protein phosphatase 2A, tau, and microtubules. Implications for the regulation of tau phosphorylation and the development of tauopathies. J Biol Chem 1999, 274:25490-25498.
66. Srivastava A.K., Choudhry S., Gopinath M.S., et al. Molecular and clinical correlation in five Indian families with spinocerebellar ataxia 12. Ann Neurol 2001, 50:796-800.
67. Stemmer P., Klee C.B. Serine/threonine phosphatases in the nervous system. Curr Opin Neurobiol 1991, 1:53-64.
68. Strack S., Westphal R.S., Colbran R.J., et al. Protein serine/threonine phosphatase 1 and 2A associate with and dephosphorylate neurofilaments. Brain Res Mol Brain Res 1997, 49:15-28.
69. Strack S., Barban M.A., Wadzinski B.E., et al. Differential inactivation of postsynaptic density-associated and soluble Ca2+/calmodulin-dependent protein kinase II by protein phosphatases 1 and 2A. J Neurochem 1997, 68:2119-2128.
70. Strack S., Zaucha J.A., Ebner F.F., et al. Brain protein phosphatase 2A: developmental regulation and distinct cellular and subcellular localization by B subunits. J Comp Neurol 1998, 392:515-527.
71. Sułek A., Hoffman-Zacharska D., Bednarska-Makaruk M., et al. Polymorphism of trinucleotide repeats in non-translated regions of SCA8 and SCA12 genes: allele distribution in a Polish control group. J Appl Genet 2004, 45(1):101-105.
72. Sung U., Jennings J.L., Link A.J., et al. Proteomic analysis of human norepinephrine transporter complexes reveals associations with protein phosphatase 2A anchoring subunit and 14-3-3 proteins. Biochem Biophys Res Commun 2005, 333:671-678.
73. Takano H., Cancel G., Ikeuchi T., et al. Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations. Am J Hum Genet Oct 1998, 63(4):1060-1066.
74. Turowski P., Myles T., Hemmings B.A., et al. Vimentin dephosphorylation by protein phosphatase 2A is modulated by the targeting subunit B55. Mol Biol Cell 1999, 10:1997-2015.
75. Virshup D.M., Kauffman M.G., Kelly T.J. Activation of SV40 DNA replication in vitro by cellular protein phosphatase 2A. EMBO J 1989, 8:3891-3898.
76. van de Warrenburg BP, Sinke RJ, Verschuuren-Bemelmans CC, et al. Neurology Mar 2002, 12; 58(5):702-708.
77. Wenning G.K., Ben Shlomo Y., Magalhaes M., et al. Clinical features and natural history of multiple system atrophy. An analysis of 100 cases. Brain 1994, 117:835-845.
78. Westphal R.S., Anderson K.A., Means A.R., et al. A signaling complex of Ca2+-calmodulin-dependent protein kinase IV and protein phosphatase 2A. Science 1998, 280:1258-1261.
79. Worth P.F., Wood N.W. Spinocerebellar ataxia type 12 is rare in the United Kingdom. Neurology 2001, 56(3):419-420. Feb 13.
80. Xie Q.Y., Liang X.L., Li X.H. Molecular genetics and its clinical application in the diagnosis of spinocerebellar ataxias. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2005, 22:71-73.
81. Xin M., Deng X. Protein phosphatase 2A enhances the proapoptotic function of Bax through dephosphorylation. J Biol Chem 2006, 281:18859-18867.
82. Zhao Y., Tan E.K., Law H.Y., et al. Prevalence and ethnic differences of autosomal-dominant cerebellar ataxia in Singapore. Clin Genet 2002, 62:478-481.
83. Zolnierowicz S., Csortos C., Bondor J., et al. Diversity in the regulatory B-subunits of protein phosphatase 2A: identification of a novel isoform highly expressed in brain. Biochemistry 1994, 33:11858-11867.
84. Zolnierowicz S., Van Hoof C., Andjelkovic N., et al. The variable subunit associated with protein phosphatase 2A0 defines a novel multimember family of regulatory subunits. Biochem J 1996, 317:187-194.