A patient homozygous for the SCA6 gene with retinitis pigmentosa

Clinical Genetics

Volumn 61, Issue 5, 2002, Pages 375-379

  Fukutake, Toshio ^a   Kamitsukasa, I ^a   Arai, K ^a   Hattori, T ^a   Nakajima, T ^b  

^a CHIBA UNIVERSITY   (Japan)

^b National Saigata Medical Center   (Japan)

Author keywords

CAG repeat; Hereditary ataxia; Homozygote; Icthyosis; Retinal degeneration; Retinitis pigmentosa; SCA6; Spinocerebeller degeneration; Upbeat nystagmus

Indexed keywords

ADENINE; ATAXIN 1; ATAXIN 3; ATAXIN 7; CYTOSINE; GENE PRODUCT; GUANINE; SPINOCEREBELLAR ATAXIA TYPE 2 PROTEIN; SPINOCEREBELLAR ATAXIA TYPE 6 PROTEIN; UNCLASSIFIED DRUG;

ADULT; ALLELE; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CEREBELLAR ATAXIA; CONSANGUINITY; DENTATORUBROPALLIDOLUYSIAN ATROPHY; FEMALE; GAIT DISORDER; GENETIC ANALYSIS; HOMOZYGOSITY; HUMAN; MALE; MOLECULAR GENETICS; NIGHT BLINDNESS; NYSTAGMUS; PRIORITY JOURNAL; RETINA DEGENERATION; RETINITIS PIGMENTOSA; TRINUCLEOTIDE REPEAT; VERTIGO; X CHROMOSOME RECESSIVE INHERITANCE;

CALCIUM CHANNELS; CEREBELLAR ATAXIA; CONSANGUINITY; FEMALE; HOMOZYGOTE; HUMANS; MALE; MIDDLE AGED; PEDIGREE; RETINITIS PIGMENTOSA;

ATAXIA;

EID: 0036590332     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2002.610510.x     Document Type: Article

References (29)

1. Zhuchenko O, Baily J, Bonnen P, et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet 1997: 15: 62-69.
2. Schols L, Kruger R, Amoiridis G, et al. Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds. J Neurol Neurosurg Psychiatry 1998: 64: 67-73.
3. Takemori S. Visual suppression test. Clin Otolaryng 1978: 3: 145-153.
4. Gomez CM, Thompson RM, Gammack JT, et al. Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset. Ann Neurol 1997: 42: 933-950.
5. Skjeldal OH, Stokke O, Refsum S. Heredopathia atactica polyneuritiformis (phytanic acid storage disease; Resum's disease; HMSN type IV). In: de Jong JMBV, ed. Handbook of clinical neurology, Vol. 16. (60): Hereditary neuropathies and spinocerebellar atrophies. Amsterdam: Elsevier, 1991: 225-242.
6. Matsumura R, Futamura N, Fujimoto Y, et al. Spinocerebellar ataxia type 6: molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion. Neurology 1997: 49: 1238-1243.
7. Geschwind DH, Perlman S, Figueroa KP, Karrim J, Baloh RW, Pulst SM. Spinocerebellar ataxia type 6: frequency of the mutation and genotype-phenotype correlations. Neurology 1997: 49: 1247-1251.
8. Ikeuchi T, Takano H, Kide R, et al. Spinocerebellar ataxia type 6: CAG repeat expansion in the α1A voltage-dependent calcium channel gene and clinical variations in the Japanese population. Ann Neurol 1997: 42: 879-884.
9. Matsuyama Z, Kawakami H, Maruyama H, et al. Molecular features of the CAG repeats of spinocerebellar ataxia (SCA6). Hum Mol Genet 1997: 6: 1283-1287.
10. Takiyama Y, Sakoe K, Namekawa M, et al. A Japanese family with spinocerebellar ataxia type 6 which includes three individuals homozygous for an expanded CAG repeat in the SCA6/CACN1A4 gene. J Neurol Sci 1998: 158: 141-147.
11. Kato T, Tanaka F, Yamamoto M, et al. Sisters homozygous for the spinocerebellar ataxia type 6 (SCA6)/CACNA1A gene associated with different clinical phenotypes. Clin Genet 2000: 58: 69-73.
12. 19 in a homozygous patient. Neurology 2001: 57: 1502-1504.
13. Yabe I, Sasaki H, Yamashita I, et al. Initial symptoms and mode of neurological progression in spinocerebellar ataxia type 6 (SCA6). Rinsho Shinkeigaku (Clin Neurol) (Tokyo) 1998: 38: 489-494. (In Japanese with an English abstract.)
14. Yabe I, Sasaki H, Matsuura T, et al. SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia. J Neurol Sci 1998: 156: 89-95.
15. Harding AE. Classification of the hereditary ataxias and paraplegia. Lancet 1983: 1: 1151-1155.
16. David G, Abbas N, Stevanin G, et al. Cloning of the SCA7 gene for ADCA type II reveals a highly unstable CAG repeat expansion. Nat Genet 1997: 17: 65-70.
17. Halsey JH, Jr, Scott TR, Farmer TW. Adult hereditary cerebelloretinal degeneration. Neurology 1967: 17: 87-90.
18. Boucher BJ, Gibberd FB. Familial ataxia, hypogonadism and retinal degeneration. Acta Neurol Scand 1969: 45: 507-510.
19. Neuhäuser G, Opitz JM. Autosomal recessive syndrome of cerebellar ataxia and hypogonadotropic hypogonadism. Clin Genet 1975: 7: 426-434.
20. Limber ER, Bresnick GH, Lebovitz RM, Appen RE, Gilbert-Barness EF, Pauli RM. Spinocerebellar ataxia, hypogonadotropic hypogonadism, and choroidal dystrophy (Boucher-Neuhäuser syndrome). Am J Med Genet 1989: 33: 409-414.
21. Salvador F, Garcia-Arumi J, Corcostegui B, Minoves T, Tarrus F. Ophthalmologic findings in a patient with cerebellar ataxia. Am J Ophthalmol 1995: 120: 241-244.
22. Tojo K, Ichinose M, Nakayama M, et al. A new family of Boucher-Neuhäuser syndrome: coexistence of Holmes type cerebellar atrophy, hypogonadotropic hypogonadism and retinochoroidal degeneration: case reports and review of literature. Endocr J 1995: 42: 367-376.
23. Rump R, Hamel BC, Pinckers AJ, van Dop PA. Two sibs with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhäuser syndrome. J Med Genet 1997: 34: 767-771.
24. Alajouanine TH, Nick J. Paraplegie spasmodique familiale avec troubles cerebelleux et paralysie verticale du regard (presentation de deux freres). Rev Neurol (Paris) 1951: 84: 182-185.
25. Boudin G, Barbizet J, Le Henaff MY. Heredo-ataxie cerebelleuse avec amblyopie et paralysie de la verticale du regard chez la mere et l'enfant. Rev Neurol (Paris 1952: 87: 330-335.
26. Jampel RS, Okazaki H, Bernstein H. Ophthalmoplegia and retinal degeneration associated with spinocerebellar ataxia. Arch Ophthal 1961: 66: 247-259.
27. Konishi T, Nishitani Y, Koga A. A case of hereditary spinocerebellar degeneration associated with retinal degeneration (abstract). Risho Shinkei (Clin Neurol) (Tokyo) 1976: 16: 475.
28. Harding AE. 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 1982: 105: 1-28.
29. Tsuchiya K, Watabiki S, Ohwada K, et al. Autosomal dominant spinocerebellar degeneration with pigmentary retinopathy in a Japanese family. No Shinkei (Brain Nerve) (Tokyo) 1994: 46: 1081-1086. (In Japanese with an English abstract.)