White matter hyperintense lesions in genetically proven spinocerebellar ataxia 8

Clinical Neurology and Neurosurgery

Volumn 110, Issue 1, 2008, Pages 65-68

  Kumar, Neeraj ^a   Miller, Gary M ^b  

^a MAYO CLINIC ROCHESTER   (United States)

^b MAYO CLINIC   (United States)

Author keywords

SCA8; White matter hyperintensities

Indexed keywords

ADULT; ARTICLE; BRAIN DAMAGE; CASE REPORT; CEREBELLUM ATROPHY; COGNITIVE DEFECT; GENETICS; HUMAN; MALE; MYOTONIC DYSTROPHY; MYOTONIC DYSTROPHY 1; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION; SPINOCEREBELLAR ATAXIA 8; SPINOCEREBELLAR DEGENERATION; TENDON REFLEX; WHITE MATTER; WHITE MATTER HYPERINTENSE LESION;

ADULT; BRAIN; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; NERVE TISSUE PROTEINS; SPINOCEREBELLAR ATAXIAS;

EID: 37249076866     PISSN: 03038467     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clineuro.2007.08.014     Document Type: Article

References (26)

1. Zoghbi H.Y. The spinocerebellar degenerations. Curr Neurol 11 (1991) 121-144
2. Koob M.D., Moseley M.L., Schut L.J., Benzow K.A., Bird T.D., Day J.W., et al. An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). Nat Genet 21 (1999) 379-384
3. Day J.W., Schut L.J., Moseley M.L., Durand A.C., and Ranum L.P. Spinocerebellar ataxia type 8: clinical features in a large family. Neurology 55 (2000) 649-657
4. Ikeda Y., Dalton J.C., Moseley M.L., Gardner K.L., Bird T.D., Ashizawa T., et al. Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia. Am J Human Genet 75 (2004) 3-16
5. The International Myotonic Dystrophy Consortium (IDMC). New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1). Neurology 54 (2000) 1218-1221
6. Schara U., and Schoser B.G. Myotonic dystrophies types 1 and 2: a summary on current aspects. Semi Pediatr Neurol 13 (2006) 71-79
7. Kornblum C., Reul J., Kress W., Grothe C., Amanatidis N., Klockgether T., et al. Cranial magnetic resonance imaging in genetically proven myotonic dystrophy types 1 and 2. J Neurol 251 (2004) 710-714
8. Nakayama T., Nakayama K., Takahashi Y., Ohkubo K., Tobe H., Soma M., et al. Case of spinocerebellar ataxia type 1 showing high intensity lesions in the frontal white on T2-weighted magnetic resonance images. Med Sci Monit 7 (2001) 299-303
9. Mosemiller A.K., Dalton J.C., Day J.W., and Ranum L.P. Molecular genetics of spinocerebellar ataxia type 8 (SCA8). Cytogenet Genome Res 100 (2003) 175-183
10. Ranum L.P., and Day J.W. Pathogenic RNA repeats: an expanding role in genetic disease. Trends Genet 20 (2004) 506-512
11. Ranum L.P., and Cooper T.A. RNA-mediated neuromuscular disorders. Annu Rev Neurosci 29 (2006) 259-277
12. Ikeda Y., Shizuka M., Watanabe M., Okamoto K., and Shoji M. Molecular and clinical analyses of spinocerebellar ataxia type 8 in Japan. Neurology 54 (2000) 950-955
13. Juvonen V., Hietala M., Paivarinta M., Rantamaki M., Hakamies L., Kaakkola S., et al. Clinical and genetic findings in Finnish ataxia patients with the spinocerebellar ataxia 8 repeat expansion. Ann Neurol 48 (2000) 354-361
14. Zeman A., Stone J., Porteous M., Burns E., Barron L., and Warner J. Spinocerebellar ataxia type 8 in Scotland: genetic and clinical features in seven unrelated cases and a review of published reports. J Neurol Neurosurg Psychiatry 75 (2004) 459-465
15. Silveira I., Alonso I., Guimaraes L., Mendonca P., Santos C., Maciel P., et al. High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal alleles. Am J Hum Genet 66 (2000) 830-840
16. Stone J., Smith L., Watt K., Barron L., and Zeman A. Incoordinated thought and emotion in spinocerebellar ataxia type 8. J Neurol 248 (2001) 229-232
17. Izumi Y., Maruyama H., Oda M., Morino H., Okada T., Ito H., et al. SCA8 repeat expansion: large CTA/CTG repeat alleles are more common in ataxic patients, including those with SCA6. Am J Hum Genet 72 (2003) 704-709
18. Lilja A., Hamalainen P., Kaitaranta E., and Rinne R. Cognitive impairment in spinocerebellar ataxia type 8. J Neurol Sci 237 (2005) 31-38
19. Glantz R.H., Wright R.B., Huckman M.S., Garron D.C., and Siegel I.M. Central nervous system magnetic resonance imaging findings in myotonic dystrophy. Arch Neurol 45 (1988) 36-37
20. Huber S.J., Kissel J.T., Shuttleworth E.C., Chakeres D.W., Clapp L.E., and Brogan M.A. Magnetic resonance imaging and clinical correlates of intellectual impairment in myotonic dystrophy. Arch Neurol 46 (1989) 536-540
21. Miaux Y., Chiras J., Eymard B., Lauriot-Prevost M.C., Radvanyi H., Martin-Duverneuil N., et al. Cranial MRI findings in myotonic dystrophy. Neuroradiology 39 (1997) 166-170
22. Ogata A., Terae S., Fujita M., and Tashiro K. Anterior temporal white matter lesions in myotonic dystrophy with intellectual impairment: an MRI and neuropathological study. Neuroradiology 40 (1998) 411-415
23. Abe K., Fujimura H., and Soga F. The fluid-attenuated inversion-recovery pulse sequence in assessment of central nervous system involvement in myotonic dystrophy. Neuroradiology 40 (1998) 32-35
24. Nemes J.P., Benzow K.A., and Koob M.D. The SCA8 transcript is an antisense RNA to a brain-specific transcript encoding a novel actin-binding protein (KLHL1). Hum Mol Genet 9 (2000) 1543-1551
25. Sergeant N., Sablonniere B., Schraen-Maschke S., Ghestem A., Maurage C.A., et al. Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1. Hum Mol Genet 10 (2001) 2143-2155
26. Udd B, Meola G, Krahe R, Thornton C, Ranum L, Day J, et al. Report of the 115th ENMC workshop: DM2/PROMM and other myotonic dystrophies. 3rd Workshop, 14-16 February 2003, Naarden, The Netherlands. Neuromuscul Disord 2003;589-96.