Autosomal dominant cerebellar ataxia (SCA6): Clinical, genetic and neuropathological study in a family

Acta Neuropathologica

Volumn 95, Issue 4, 1998, Pages 333-337

  Takahashi, Hitoshi ^a   Ikeuchi, Takeshi ^a   Honma, Yoshiaki ^b   Hayashi, Shintaro ^a   Tsuji, Shoji ^a  

^a NIIGATA UNIVERSITY   (Japan)

^b Sado General Hospital   (Japan)

Author keywords

Ataxia; Autosomal dominance; CAG repeat expansion; Cerebello olivary atrophy; SCA6

Indexed keywords

AGED; ARTICLE; AUTOPSY; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CEREBELLAR ATAXIA; CEREBELLUM CORTEX; CEREBELLUM VERMIS; FEMALE; HUMAN; HUMAN TISSUE; INFERIOR OLIVE; NEUROPATHOLOGY; PRIORITY JOURNAL; PURKINJE CELL;

AGED; AGED, 80 AND OVER; CEREBELLAR ATAXIA; CEREBELLUM; DNA, NEOPLASM; FEMALE; GENOME; HISTOCYTOCHEMISTRY; HUMANS; MALE; MIDDLE AGED; PEDIGREE; TOMOGRAPHY, X-RAY COMPUTED;

EID: 0031934596     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004010050807     Document Type: Article

References (26)

1. Akelaitis AJ (1938) Hereditary form of primary parenchimatous atrophy of the cerebellar cortex associated with mental deterioration. Am J Psychiatry 94:1115-1140
2. Bielschowsky M, Bouman L, Sillevis Smitt WG (1934) Über eine ungewöhnliche Form von cerebellarer Heredoataxie. J Psychiatr Neurol 51: 1-15
3. Bogaert LV (1947) Sur une atrophie cérébelleuse tradive du type Marie-Foix-Alajouanine héréditaire et familiale avec une atrophie pallidale partielle cliniquement muette. J Belge Neurol Psychiatry 47: 268-286
4. Bonni A, Carpio-O'Donovan RD, Robitaille Y, Andermann E, Andermann F, Arnold DA (1993) Magnetic resonance imaging in the diagnosis of dominantly inherited cerebello-olivary atrophy: a clinicopathologic study. Can Assoc Radiol J 44: 194-198
5. Braak H, Braak E, Ohm T, Bohl J (1988) Silver impregnation of Alzheimer's neurofibrillary changes counterstained for basophilic material and lipofuscin pigment. Stain Technol 63: 197-200
6. Eadie MJ (1975) Cerebello-olivary atrophy (Holmes type). Handb Clin Neurol 21: 403-414
7. Gilman S, Sima AAF, Junck L, Kluin KJ, Koeppe RA, Lohman MA, Little R (1996) Spinocerebellar ataxia type I with multiple system degeneration and glial cytoplasmic inclusions. Ann Neurol 39: 241-255
8. Hall B, Noad KB, Latham O (1941) Familial cortical cerebellar atrophy. Brain 64: 178-194
9. Hall B, Noad KB, Latham O (1945) Familial cortical cerebellar atrophy: a contribution to the study of heredo-familial cerebellar disease in Australia. Med J Aust 1: 101-108
10. Hammans SR (1996) The inherited ataxias and the new genetics. J Neurol Neurosurg Psychiatry 61: 327-332
11. Harding AE (1982) The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of 'the Drew family of Walworth'. Brain 105: 1-28
12. Harding AE (1993) Clinical features and classification of inherited ataxias. Adv Neurol 61: 1-14
13. Huffman PM, Stuart WH, Earle KM, Brody JA (1971) Hereditary late-onset cerebellar degeneration. Neurology 21: 771-777
14. Holmes G, Stewart TG (1908) On the connection of the inferior olives with the cerebellum in man. Brain 31: 125-135
15. Nakazato Y, Yamazaki H, Hirato J, Ishida Y, Yamaguchi H (1990) Oligodendroglial microtubular tangles in olivopontocerebellar atrophy. J Neuropathol Exp Neurol 49: 521-530
16. 2+ channel gene CACNL1A4. Cell 87: 543-552
17. Papp MI, Kahn JE, Lantos P (1989) Glial cytoplasmic inclusions in the CNS of patients with multiple system atrophy (striatonigral degeneration, olivopontocerebellar atrophy and Shy-Drager sysdrome). J Neurol Sci 94: 79-100
18. 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 chromosome 11. Nat Genet 8: 280-284
19. Richter RB (1950) Late cortical cerebellar atrophy. A form of hereditary ataxia. Am J Hum Genet 2: 1-29
20. Rosenberg RN (1995) Autosomal dominant cerebellar phenotypes: the genotype has settled the disease. Neurology 45: 1-5
21. Sambrook J, Fritsch EF, Maniatis T (1989) Molecular cloning: a laboratory manual, 2nd edn. Cold Spring Harbor Laboratory Press, Cold Spring Harbor
22. Sanpei K, Takano H, Igarashi S, et al (1996) Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nat Genet 14: 277-284
23. Subramony SH, Fratkin JD, Manyam BN, Currier RD (1996) Dominantly inherited cerebello-olivary atrophy is not due to a mutation at the spinocerebellar ataxia-I, Machado-Joseph disease, or dentato-rubro-pallido-luysian atrophy locus. Mov Disord 11: 174-180
24. Wakabayashi K, Takahashi H (1996) Similarities and differences among progresive supranuclear palsy, corticobasal degeneration and Pick's disease. Neuropathology 16: 262-268
25. Weber FP, Greenfield JG (1942) Cerebello-olivay degeneration: an example of heredo-familial incidence. Brain 65: 220-231
26. 1A-voltage-dependent calcium channel. Nat Genet 15: 62-69