Periodic vestibulocerebellar ataxia, an autosomal dominant ataxia with defective smooth pursuit, is genetically distinct from other autosomal dominant ataxias

Archives of Neurology

Volumn 53, Issue 4, 1996, Pages 338-344

  Damji, Karim F ^a   Allingham, R Rand ^a   Pollock, Stephen C ^a   Small, Kent ^b   Lewis, Karen E ^a   Stajich, Jeffrey M ^a   Yamaoka, Larry H ^a   Vance, Jeffery M ^a   Pericak Vance, Margaret A ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b JULES STEIN EYE INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CEREBELLAR ATAXIA; CHROMOSOME 12P; CHROMOSOME 12Q; CHROMOSOME 14Q; CHROMOSOME 16Q; CHROMOSOME 19P; CHROMOSOME 6P; CLINICAL FEATURE; DNA DETERMINATION; GENE LOCATION; GENETIC LINKAGE; GENETIC SUSCEPTIBILITY; HUMAN; MALE; NYSTAGMUS; PRIORITY JOURNAL; VERTIGO;

EID: 0029922495     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: 10.1001/archneur.1996.00550040074016     Document Type: Article

References (42)

1. Farmer TW, Mustian VM. Vestibulocerebellar ataxia Arch Neurol 1963;8:471-480.
2. Vance JM, Pericak-Vance MA, Payne CS, Coin JT, Olanow CW. Linkage and genetic analysis in adult onset periodic vestibulocerebellar ataxia report of a new family. Am J Hum Genet 1984,36(suppl):78S. Abstract
3. Small KW, Pollock SC, Vance JM, Stajich JM Ocular motility in North Carolina autosomal dominant ataxia J Neuroophthalmol. In press.
4. Harding AE. Clinical features and classification of inherited ataxias. Adv Neurol. 1993;61:1-14.
5. Greenfield JG. Diseases of the cerebellum and its connections. In: Blackwood W, Corsellis JAN, eds. Greenfield's Neuropathotogy. 3rd ed. London, England: Edward Arnold Publishers Ltd; 1976:622-625.
6. Ranum LPW, Chung M-Y, Banfi S, et al Molecular and clinical correlations in spinocerebellar ataxia type 1: evidence for familial effects on the age at onset Am J Hum Genet. 1994;55 244-252
7. Zoghbi HY, Jodice C, Sandkuijl LA, et al 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. 1991;49. 23-30.
8. Ranum LPW, Duvick LA, Rich SS, Schut LJ, Litt M, Ort HT Localization of the autosomal dominant HLA-linked spino-cerebellar ataxia (SCA1) locus in two kindreds within an 8-cm subregion of chromosome 6p. Am J Hum Genet. 1991, 49:31-41
9. Keats BJB, Pollack MS, McCall A, et al. Tight linkage of the gene for spinocerebellar ataxia to D6S89 on the short arm of chromosome 6 in a kindred for which close linkage to both HLA and F13A1 is excluded Am J Hum Genet. 1991;49.972-977.
10. Nechiporuk A, Frederick T, Lopes-Cenders I, et al. Genetic map of the spinocerebellar ataxia (SCA 2) region on chromosome 12 Am J Hum Genet 1994; 55(suppl 3):A200. Abstract.
11. Allotey R, Twells G, Orozco G, et al. Location of the spinal cerebellar ataxia 2 locus to a 1 cM interval on chromosome 12q23-24.1. Am J Hum Genet 1994; 55(suppl 3).A179. Abstract.
12. Stevanin G, Le Guern E, Ravisé N, et al. 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. 1994;54:11-20.
13. Stevanin G, Sousa PS, Cancel G, et al. The gene for Machado-Joseph disease maps to the same 3-cM interval as the spinal cerebellar ataxia 3 gene on chromosome 14q. Neurobiol Dis 1994;1:79-82
14. Stevanin G, Cancel G, Durr A, et al. The gene for spinal cerebellar ataxia 3 (SCA 3) is located in a region of approximately 3 cM on chromosome 14q24.3-q32.3. Am J Hum Genet 1995;56:193-201.
15. Sasaki H, Wakisaka A, Takada A, et al. Mapping of the gene for Machado-Joseph disease within a 3.6-cM interval flanked by D14S291/D14S280 and D14S81, on the basts of studies of linkage and linkage disequilibrium in 24 Japanese families Am J Hum Genet. 1995;56:231-242.
16. Takiyama Y, Nishizawa M, Tanaka H, et al. The gene for Machado-Joseph disease maps to human chromosome 14q. Nat Genet. 1993,4 300-304.
17. Gardner K, Alderson K, Galster B, Kaplan C, Leppert M, Ptacek L. Autosomal dominant spinocerebellar ataxia: clinical description of a distinct hereditary ataxia and genetic localization to chromosome 16 (SCA4) in a Utah kindred Neurology. 1994;44(suppl 2) A361. Abstract.
18. Ranurn LPW, Schut LJ, Lundgren JK, Orr HT, Livingston DM. Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. Nat Genet. 1994;8:280-284.
19. Litt M, Kramer P, Browne D, et al. A gene for episodic ataxia/myokymia maps to chromosome 12p13. Am J Hum Genet 1994,55.702-709
20. Kramer PL, Yue Q, Gancher ST, et al. A locus for the nystagmus-associated form of episodic ataxia maps to an 11-cM region on chromosome 19p. Am J Hum Genet 1995;57.182-185.
21. Nagafuchi S, Yanagisawa H, Sato K, et al Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nat Genet 1994,6:14-18.
22. Koide R, Ikeuchi T, Onodera O, et al. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) Nat Genet. 1994;6. 9-13
23. Burke JR, Wingfield MS, Lewis KE, et al The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family. Nat Genet. 1994;7:521-524.
24. Banfi S, Servadio A, Chung M-Y, et al Identification and characterization of the gene causing type 1 spinocerebellar ataxia. Nat Genet 1994;7:513-520.
25. Browne DL, Gancher ST, Nutt JG, et al Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1 Nat Genet. 1994,8.136-140.
26. Ben Othmane K, Hamida MB, Pericak-Vance MA, et al Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q Nat Genet 1992;2 315-317.
27. Haynes CS, Pericak-Vance MA, Hung WY, Deutsch DB, Roses AD PEDIGENE: a computerized data collection and analysis system for genetic laboratories. Am J Hum Genet 1988,43(suppl 3).A146. Abstract.
28. Ploughman LM, Boehnke M. Estimating the power of a proposed linkage study for a complex genetic trait. Am J Hum Genet. 1989;44:543-551.
29. Lathrop GM, Lalouel JM, Julier C, Ott J Strategies for multilocus linkage analysis in humans Proc Natl Acad Sci USA. 1984;81:3443-3446.
30. Cottingham RW Jr, Idury RM, Schaffer AA. Faster sequential genetic linkage computations. Am J Hum Genet. 1993;53:252-263
31. Schaffer AA, Gupta SK, Shriram K, Cottingham RW Jr. Avoiding recomputation in genetic linkage analysis. Hum Hered. 1994;44:225-237.
32. Orr HT, Chung M-Y, Banfi S, et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet. 1993;4:221-226.
33. Murray JC, Buetow KH, Weber JL, et al. A comprehensive human linkage map with centimorgan density. Science. 1994;265:2049-2054.
34. Gilbert JR, Stajich JM, Speer MC, et al Linkage studies in facioscapulohumeral muscular dystrophy (FSHD). Am J Hum Genet 1992,51:424-427.
35. Orozco G, Estrada R, Perry TL, et al Dominantly inherited olivopontocerebellar atrophy from eastern Cuba: clinical, neuropathological, and biochemical findings. J Neurol Sci. 1989,93 37-50
36. Kawaguchi Y, Okamoto T, Taniwaki M, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet. 1994;8:221-228.
37. Takiyama T, Oyanagi S, Kawashima S, et al. A clinical and pathologic study of a large Japanese family with Machado-Joseph disease tightly linked to the DNA markers on chromosome 14q. Neurology. 1994,44.1302-1308.
38. Teh BT, Silburn P, Lindblad K, et al Familial periodic cerebellar ataxia without myokymia maps to a 19-cM region on 19p13. Am J Hum Genet. 1995;56: 1443-1449.
39. von Brederlow B, Hahn AF, Koopman WJ, Ebers GC, Bulman DE. Mapping the gene for acetazolamide responsive hereditary paryoxysmal cerebellar ataxia to chromosome 19p. Hum Mol Genet 1995;4:279-284
40. Kondo I, Marimoto Y, Kuwano A, Nagai T, Hasegawa T. Assignment of a gene for hereditary denratorubral-pallidoluysian atrophy (DRPLA) to 12p13.1-p12.3. Am J Hum Genet. 1994,55(suppl 3):A191 Abstract.
41. Farmer TW, Wingfield MS, Lynch SA, et al Ataxia, chorea, seizures, and dementia: pathologic features of a newly defined familial disorder Arch Neurol 1989;46:774-779
42. Bain PG, O'Brien MD, Keevil SF, Porter DA. Familial periodic cerebellar ataxia: a problem of cerebellar intracellular pH homeostasis. Ann Neurol 1992;31 147-154.