Morphological Purkinje cell changes in spinocerebellar ataxia type 6

Acta Neuropathologica

Volumn 100, Issue 4, 2000, Pages 371-376

  Yang, Qing ^a   Hashizume, Yoshio ^a   Yoshida, Mari ^a   Wang, Yin ^a   Goto, Yoji ^b   Mitsuma, Norimasa ^b   Ishikawa, Kinya ^c   Mizusawa, Hidehiro ^c  

^a AICHI MEDICAL UNIVERSITY   (Japan)

^b NAGOYA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

Author keywords

Calbindin D; Immunohistochemisry; Purkinje cell; SCA6

Indexed keywords

CALBINDIN; CALCIUM CHANNEL; PARVALBUMIN;

AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CELL COUNT; CELL MEMBRANE; CELL NUCLEUS; CELL STRUCTURE; CEREBELLAR ATAXIA; CEREBELLUM VERMIS; CHROMOSOME 19P; DENDRITE; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; PRIORITY JOURNAL; PURKINJE CELL; TRINUCLEOTIDE REPEAT; WHITE MATTER;

EID: 0033944931     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004010000201     Document Type: Article

References (26)

1. Benomar A, Krols L, Stevanin G, et al (1995) The gene for autosomal dominant cerebellar ataxia with pigmentary mucular dystrophy maps to chromosome 3p12-p21.1. Nat Genet 10: 84-88
2. David G, Giunti P, Abbas N, Coullin P, Stevanin G, Horta W, Gemmill R, Weissenbuch J, Wood N, Cunha S, Drabkin H, Harding AE, Agid Y, Brice A (1996) The gene for autosomal dominant cerebellar ataxia type II is located in a 5-cM region in 3p12-p13: genetic and physical mapping of the SCA7 locus. Am J Hum Genet 59: 1328-1336
3. Ferrer I, Geníst D, Dávalost A, Bernadó L, Sant F, Serrano T (1994) The Purkinje cell in olivopontocerebellar atrophy. A Golgi and immunocytochemical study. Neuropathol Appl Neurobiol 20: 38-46
4. Flanigan K, Gardner K, Alderson K, Galster B, Otterud B, Leppert MF, Kaplan C, Ptacek LJ (1996) Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1. Am J Hum Genet 59: 392-399
5. Gardner K, Alderson K, Galster B, Kaplan C, Leppert M, Ptacek L (1994) Autosomal dominant spinocerebellar ataxia: clinical description of a distinct hereditary ataxia and genetic localization to chromosome 16 (SCA4) in a Utah kindred. Neurology [Suppl 2] 44: A361
6. Gispert S, Twells R, Orozco G, et al (1993) Chromsomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1. Nat Genet 4: 295-299
7. Gomez CM, Thompson RM, Gammack JT, Perlman SL, Dobyns WB, Truwit CL, Zee DS, Clark HB, Anderson JH (1997) Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset. Ann Neurol 42: 933-950
8. Harding AE (1993) Clinical features and classification of inherited ataxias. Adv Neurol 61: 1-14
9. 2+-binding proteins in human nerodegenerative disorders. Trends Neurosci 15: 259-264
10. Ishikawa K, Mizusawa H, Fujita T, Ohkoshi N, Doi M, Komatsuzaki Y, Iwamoto H, Ogata T, Shoji S (1995) Calbindin-D 28K immunoreactivity in the cerebellum of spinocerebellar degeneration. J Neurol Sci 129: 179-185
11. Ishikawa K, Ohkoshi N, Fujita T, Mizusawa H (1999) Expression analysis of alpha 1A-calcium channel mRNA in brains of spinocerebellar ataxia type 6 (SCA6) using in situ hybridization. Proceedings of the 40th Annual Meeting of the Japanese Society of Neuropathology IIIA10. Neuropathology 19 [Suppl]: A54
12. Kwiatkowski TJ Jr, Orr HT, Banfi S, McCall AE, Jodice C, Persichetti F, Novelletto A, LeBergne-DeMarquoy F, Duvick LA, Frontali M, Subramony SH, Beaudet AL, Terrenatol L, Zoghbi HY, Ranum LPW (1993) The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps centromeric to D6S89 and shows no recombination, in nine large kindreds, with a dinucleotide repeat at the AM10 locus. Am J Hum Genet 53: 391-400
13. 2+ channels in the mammalian central nervous system. Trends Neurosci 15: 351-355
14. Mori Y, Friedrich T, Kim M-S, Mikami A, Nakai J, Ruth P, Bosse E, Hofmann F, Flockerzi V, Furuichi T, Mikoshiba K, Imoto K, Tanabe T, Numa S (1991) Primary structure and function expression from complementary DNA of a brain calcium channel. Nature 35: 398-402
15. Ranum LPW, Schut LJ, Lundgren JK, Orr HT, Livingston DM (1994) Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromsome 11. Nat Genet 8: 280-284
16. Sasaki H, Kojima H, Yabe I, Tashiro K, Hamada T, Sawa H, Hiraga H, Nagashima K (1998) Neuropathological and molecular studies of spinocerebellar ataxia type 6 (SCA6). Acta Neuropathol 95: 199-204
17. 2+-binding properties in the human cerebellar cortex: distribution of parvalbumin and calbindin D-28K immunoreactivity. Anat Embryol (Berl) 185: 163-167
18. Stevanin G, Le Guern E, Ravisé N, et al (1994) A third locus for autosomal dominant cerebellar ataxia type 1 maps to chromosome 14q24.3-qter: evidence for the existence of a fourth locus. Am J Hum Genet 54: 11-20
19. Subramony SH, Fratkin JD, Manyam BV, Currier RD (1996) Dominantly inherited cerebello-olivary atrophy is not due to a mutation at the spinocerebellar ataxia-1, Machado-Joseph disease, or dentato-rubro-pallido-luysian atrophy locus. Mov Disord 11: 174-180
20. Takahashi H, Ikeuchi T, Honma Y, Hayashi S, Tsuji S (1998) Autosomal dominant cerebellar ataxia (SCA6): clinical, genetic and neuropathological study in a family. Acta Neuropathol 95: 333-337
21. Takiyama Y, Igarashi S, Rogaeva EA, et al (1995) Evidence for intergenerational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease. Hum Mol Genet 4: 1137-1146
22. Tsuchiya K, Ishikawa K, Watabiki S, Tone O, Taki K, Haga C, Takashima M, Ito U, Okeda R, Mizusawa H, Ikeda K (1998) A clinical, genetic, neuropathological study in a Japanese family with SCA6 and a review of Japanese autopsy cases of autosomal dominant cortical cerebellar atrophy. Neurol Sci 160: 54-59
23. Vig PJS, Fratkin JD, Desaiah D, Currier RD, Subramony SH (1996) Decreased parvalbumin immunoreacticity in surviving Purkinje cells of patients with spinocerebellar ataxia-1. Neurology 47: 249-253
24. Yakura H, Wakisaka A, Fujimoto S, Itakura K (1974) Hereditary ataxia and HL-A genotypes. N Engl J Med 291: 154-155
25. Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DM, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee CC (1997) Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α 1 A-voltage-dependent calcium channel. Nat Genet 15: 62-69
26. Zoghbi HY, Jodice C, Sandkuijl LA, Kwiatkowski TJ Jr, McCall AE, Huntoon SA, Lulli P, Spadoro M, Litt M, Cann HM, Frontali M, Terrenato L (1991) The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps telomeric to the HLA complex and is closely linked to the D6S89 locus in three large kindreds. Am J Hum Genet 49: 23-30