Other spinocerebellar ataxias

Handbook of Clinical Neurology

Volumn 103, Issue , 2012, Pages 581-586

  Cloud, Leslie J ^a   Wilmot, George ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 79961143172     PISSN: 00729752     EISSN: None     Source Type: Book Series    
DOI: 10.1016/B978-0-444-51892-7.00040-1     Document Type: Chapter

References (58)

1. Amino T., Ishikawa K., Toru S., et al. Redefining the disease locus of 16q22.1-linked autosomal dominant cerebellar ataxia. J Hum Genet 2007, 52:643-649.
2. Bauer P., Laccone F., Rolfs A., et al. Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's disease-like phenotype. J Med Genet 2004, 41:230-232.
3. Brkanac Z., Fernandez M., Matsushita M., et al. Autosomal dominant sensory/motor neuropathy with ataxia (SMNA): linkage to chromosome 7q22-q32. Am J Med Genet 2002, 114:450-457.
4. Brusse E., De Koning I., Maat-Kievit A., et al. Spinocerebellar ataxia associated with mutation in the fibroblast growth factor 14 gene (SCA 27): a new phenotype. Mov Disord 2006, 21:396-401.
5. 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.
6. Chen D.H., Brkanac Z., Verlinde C.L., et al. Missense mutations in the regulatory domain of PKC-gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. Am J Hum Genet 2003, 72:839-849.
7. Chung M.Y., Soong B.W. Reply to SCA 19 and SCA 22: evidence for one locus with a world-wide distribution. Brain 2004, 127:e7.
8. Chung M.Y., Lu Y.C., Cheng N.C., et al. A novel autosomal dominant spinocerebellar ataxia (SCA 22) linked to chromosome 1p21-q23. Brain 2003, 126:1293-1299.
9. Dalski A., Atici J., Kreuz F.R., et al. Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias. Eur J Hum Genet 2005, 13:118-120.
10. Devos D., Schraen M.S., Vuillame I., et al. Clinical features and genetic analysis of a new form of spinocerebellar ataxia. Neurology 2001, 56:234-238.
11. Dudding T.E., Friend K., Schofield P.W., et al. Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus. Neurology 2004, 63:2288-2292.
12. Fahey M.C., Knight M.A., Shaw J.H., et al. Spinocerebellar ataxia type 14: study of a family with an exon 5 mutation in the PRKCG gene. J Neurol Neurosurg Psychiatry 2005, 76:1720-1722.
13. Finsterer J. Ataxias with autosomal, X-chromosomal or maternal inheritance. Can J Neurol Sci 2009, 36:409-428.
14. 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.
15. Friedman M., Shah A., Fang Z., et al. Polyglutamine domain modulates the TBP-TFIIB interaction: implications for its normal function and neurodegeneration. Nat Neurosci 2007, 10:1519-1528.
16. Friedman M., Wang C., Li X., et al. Polyglutamine expansion reduces the association of TATA-binding protein with DNA and induces DNA binding-independent neurotoxicity. J Biol Chem 2008, 283:8283-8290.
17. Gardner R.J. "SCA16" is really SCA15. J Med Genet 2008, 45:192.
18. Hellenbroich Y., Bubel S., Pawlack H., et al. Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region. J Neurol 2003, 250:668-671.
19. Hellenbroich Y., Bernard V., Zühlke C. Spinocerebellar ataxia type 4 and 16q22.1-linked Japanese ataxia are not allelic. J Neurol 2008, 255:612-613.
20. Herman-Bert A., Stevanin G., Netter J.C., et al. Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation. Am J Hum Genet 2000, 67:229-235.
21. Higgins J.J., Pho L.T., Ide S.E., et al. Evidence for a new spinocerebellar ataxia locus. Mov Disord 1997, 12:412-417.
22. Hubner J., Sprenger A., Klein C., et al. Eye movement abnormalities in spinocerebellar ataxia type 17 (SCA17). Neurology 2007, 69:1160-1168.
23. 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.
24. Klebe S., Durr A., Rentschler A., et al. New mutations in protein kinase C gamma associated with spinocerebellar ataxia type 14. Ann Neurol 2005, 58:720-729.
25. Koide R., Kobayashi S., Shimohata T., et al. A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a novel polyglutamine disease?. Hum Mol Genet 1999, 8:2047-2053.
26. Lasek K., Lencer R., Gaser C., et al. Morphological basis for the spectrum of clinical deficits in spinocerebellar ataxia 17 (SCA 17). Brain 2006, 129:2341-2352.
27. Lin I., Wu R., Lee-Chen G., et al. The SCA 17 phenotype can include features of MSA-C, PSP and cognitive impairment. Parkinsonism Relat Disord 2007, 13:246-249.
28. Loy C., Sweeny M., Davis M., et al. Spinocerebellar ataxia type 17: extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging. Mov Disord 2005, 20:1521-1528.
29. Maltecca F., Filla A., Castaldo I., et al. Intergenerational instability and marked anticipation in SCA 17. Neurology 2003, 61:1441-1443.
30. Mariotti C., Alpini D., Fancellu R., et al. Spinocerebellar ataxia type 17 (SCA17): oculomotor phenotype and clinical characterization of 15 Italian patients. J Neurol 2007, 254:1538-1546.
31. Maruyama H., Izumi Y., Morino H., et al. Difference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: a study of 1286 Japanese patients. Am J Med Genet 2002, 114:578-583.
32. Misceo D., Fannemel M., Barøy T., et al. SCA27 caused by a chromosome translocation: further delineation of the phenotype. Neurogenetics 2009, 10:371-374.
33. Nagaoka U., Takashima M., Ishikawa K., et al. A gene on SCA4 locus causes dominantly inherited pure cerebellar ataxia. Neurology 2000, 54:1971-1975.
34. Nakamura K., Jeong S., Uchihara T., et al. SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. Hum Mol Genet 2001, 10:1441-1448.
35. Oda M., Maruyama H., Komure O., et al. Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17. Arch Neurol 2004, 61:209-212.
36. Ouyang Y., Sakoe K., Shimazaki H., et al. 16q-linked autosomal dominant cerebellar ataxia: a clinical and genetic study. J Neurol Sci 2006, 247:180-186.
37. Owada K., Ishikawa K., Toru S., et al. A clinical, genetic, and neuropathologic study in a family with 16q-linked ADCA type III. Neurology 2005, 65:629-632.
38. Rolfs A., Koeppen A., Bauer I., et al. Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17). Ann Neurol 2003, 54:367-375.
39. Saito N., Shirai Y. Protein kinase C gamma (PKC gamma): function of neuron specific isotype. J Biochem 2002, 132:683-687.
40. Schelhaas H.J., Ippel P.F., Hageman G., et al. Clinical and genetic analysis of a four-generation family with a distinct autosomal dominant cerebellar ataxia. J Neurol 2001, 248:113-120.
41. Schelhaas H.J., Verbeek D.S., Van de Warrenburg B.P., et al. SCA19 and SCA22: evidence for one locus with a worldwide distribution. Brain 2004, 127:E6.
42. Stevanin G., Fujigasaki H., Lebre A., et al. Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes. Brain 2003, 126:1599-1603.
43. Stevanin G., Hahn V., Lohmann E., et al. Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14. Arch Neurol 2004, 61:1242-1248.
44. Storey E., Bahlo M., Fahey M., et al. A new dominantly-inherited pure cerebellar ataxia, SCA 30. J Neurol Neurosurg Psychiatry 2009, 80:408-411.
45. Toyoshima Y., Yamada M., Onodera O., et al. SCA 17 homozygote showing Huntington's disease-like phenotype. Ann Neurol 2004, 55:281-286.
46. van de Warrenburg B.P., Verbeek D.S., Piersma S.J., et al. Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family. Neurology 2003, 61:1760-1765.
47. van Swieten J.C., Brusse E., de Graaf B.M., et al. A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia. Am J Hum Genet 2003, 72:191-199.
48. Verbeek D.S. Spinocerebellar ataxia 23: a genetic update. Cerebellum 2009, 8:104-107.
49. Verbeek D.S., Schelhaas J.H., Ippel E.F., et al. Identification of a novel SCA locus (SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21. Hum Genet 2002, 111:388-393.
50. Vlak M.H., Sinke R.J., Rabelink GM, et al. Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: expanding the phenotype. Mov Disord 2006, 21:1025-1028.
51. Vuillame I., Devos D., Schraen-Maschke S., et al. A new locus for spinocerebellar ataxia (SCA 21) maps to chromosome 7p21.3-p15.1. Ann Neurol 2002, 52:666-670.
52. Waters M.F., Pulst S.M. Sca13. Cerebellum 2008, 7:165-169.
53. Waters M.F., Fee D., Figueroa K.P., et al. An autosomal dominant ataxia maps to 19q13: Allelic heterogeneity of SCA13 or novel locus?. Neurology 2005, 65:1111-1113.
54. Waters M.F., Minassian N.A., 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.
55. Wild E., Mudanohwo E., Sweeny M., et al. Huntington's disease phenocopies are clinically and genetically heterogeneous. Mov Disord 2008, 23:716-720.
56. Yamashita I., Sasaki H., Yabe I., et al. A novel locus for dominant cerebellar ataxia (SCA14) maps to a 10.2-cM interval flanked by D19S206 and D19S605 on chromosome 19q13.4-qter. Ann Neurol 2000, 48:156-163.
57. Yu G.Y., Howell M.J., Roller M.J., et al. Spinocerebellar ataxia type 26 maps to chromosome 19p13.3 adjacent to SCA6. Ann Neurol 2005, 57:349-354.
58. Zuhlke C.H., Spranger M., Spranger S., et al. SCA17 caused by homozygous repeat expansion in TBP due to partial isodisomy 6. Eur J Hum Genet 2003, 11:629-632.