Autosomal dominant cerebellar ataxia with retinal degeneration: Clinical, neuropathologic, and genetic analysis of a large kindred

Neurology

Volumn 44, Issue 8, 1994, Pages 1441-1447

  Gouw, L W ^a   Digre, K B ^a   Harris, C P ^a   Haines, J H ^b   Ptacek, L J ^a  

^a UNIVERSITY OF UTAH HEALTH SCIENCES CENTER   (United States)

^b NONE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CEREBELLAR ATAXIA; CEREBELLUM; CHROMOSOME 12Q; CHROMOSOME 6P; CLINICAL ARTICLE; FEMALE; GENE LOCUS; HISTOPATHOLOGY; HUMAN; INFERIOR OLIVE; MALE; PRIORITY JOURNAL; RETINA DEGENERATION; RETINA GANGLION CELL;

ADOLESCENT; ADULT; BRAIN; CEREBELLAR ATAXIA; FEMALE; GENETIC MARKERS; HUMANS; LINKAGE (GENETICS); LOD SCORE; MALE; MIDDLE AGED; PEDIGREE; POLYMERASE CHAIN REACTION; RETINAL DEGENERATION;

EID: 0028169646     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/wnl.44.8.1441     Document Type: Article

References (36)

1. Koningsmark BW, Weiner LP. The olivopontocerebellar atrophies: a review. Medicine 1970;49:227–241.
2. Greenfield JG. The spino-cerebellar degenerations. Springfield, IL: Charles C Thomas, 1954.
3. Harding AE. The hereditary ataxias and related disorders. New York: Churchill Livingstone, 1984.
4. Rosenberg RN. Autosomal dominant cerebellar phenotypes: the genotype will settle the issue. Neurology 1990;40:1329–1331.
5. Nino HE, Noreen HJ, Dubey DP, et al. A family with hereditary ataxia: HLA typing. Neurology 1980;30:12–20.
6. Haines JL, Schut LJ, Weitkamp LR, Thayer M, Anderson VE. Spinocerebellar ataxia in a large kindred: age at onset, reproduction, and genetic linkage studies. Neurology 1984;34:1542–1548.
7. Orozco Diaz G, Nodarse Fleites A, Cordovés Sagaz R, Auburger G. Autosomal dominant cerebellar ataxia: clinical analysis of 263 patients from a homogeneous population in Holguin, Cuba. Neurology 1990;40:1369–1375.
8. Gispert S, Twells R, Orozco G, et al. Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1. Nature Genetics 1993;4:295–299.
9. Froment J, Bonnet P, Colrat A. Hérédo-dégénérations rétinienne et spino-cérébelleuse: variantes ophtalmoscopiques et neurologiques présentées par trois générations successives. J Med Lyon 1937;18:153–162.
10. Jampel RS, Okazaki H, Bernstein H. Ophthalmoplegia and retinal degeneration associated with spinocerebellar ataxia. Arch Ophthalmol 1961,66:247–259.
11. Weiner LP, Koningsmark BW, Stoll J, Magladery JW. Hereditary olivopontocerebellar atrophy with retinal degeneration: report of a family through six generations. Arch Neurol 1967;16:364–376.
12. Duinkerke-Eerola KU, Cruysberg JRM, Deutman AF. Atrophic maculopathy associated with hereditary ataxia. Am J Ophthalmol 1980;90:597–603.
13. 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.
14. Anttinen A, Nikoskelainen RJ, Marttila R, et al. Familial olivopontocerebellar atrophy with macular degeneration: a separate entity among the olivopontocerebellar atrophies. Acta Neurol Scand 1986;73:180–190.
15. Cooles P, Michaud R, Best PV. A dominantly inherited progressive disease in a black family characterized by cerebellar and retinal degeneration, external ophthalmoplegia and abnormal mitochondria. J Neurol Sci 1988;87:275–288.
16. To KW, Adamian M, Jakobiec FA, Berson EL. Olivopontocerebellar atrophy with retinal degeneration: an electro-retinographic and histopathologic investigation. Ophthalmology 1993;100:15–23.
17. Ptacek LJ, George AL, Barchi RL, et al. Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita. Neuron 1992;8:891–897.
18. Bell GI, Karam J, Rutter W. Polymorphic DNA region adjacent to the 5' end of the human insulin gene. Proc Natl Acad Sci U S A 1981;78:5759–5763.
19. Lathrop GM, Lalouel J-M, Julier C, Ott J. Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet 1985;37:482–498.
20. Yakura H, Wakisaka A, Fujimoto S, Itakura K. Hereditary ataxia and HLA genotypes. N Engl J Med 1974;291:154–155.
21. Jackson JF, Currier RD, Terasaki PI, Morton NE. Spinocerebellar ataxia and HLA linkage: risk prediction by HLA typing. N Engl J Med 1977;296:1138–1141.
22. Bale AE, Bale SJ, Schlesinger SL, McFarland HF. Linkage analysis in spinotropine atrophy: correlation of HLA linkage with phenotypic findings in hereditary ataxia. Am J Med Genet 1987;27:595–602.
23. Zoghbi HY, Pollack MS, Lyons LA, et al. Spinocerebellar ataxia: variable age of onset and linkage to human leukocyte antigen in a large kindred. Ann Neurol 1988;23:580–584.
24. Volz A, Fonatsh C, Ziegler A. Regional mapping of the gene for autosomal dominant spinocerebellar ataxia (SCA1) by localizing the closely linked D6S89 locus to 6p24.2-p23.05. Cy-togenet Cell Genet 1992;60:37–39.
25. Morton NE, Lalouel J-M, Jackson JF, Currier RD, Yee S. Linkage studies in spinocerebellar ataxia (SCA). Am J Med Genet 1980;6:251–257.
26. Litt M, Luty JA. Dinucleotide repeat polymorphism at the D6S89 locus. Nucleic Acids Res 1990;18:4301.
27. Orozco Diaz G, Estrada R, Arana J, et al. Dominantly inherited olivopontocerebellar atrophy from eastern Cuba: clinical, pathological and biochemical findings. J Neurol Sci 1989;93:37–50.
28. Ranum LPW, Rich SS, Nance MA, et al. Autosomal dominant spinocerebellar ataxia: locus heterogeneity in a Nebraska kindred. Neurology 1992;42:344–347.
29. Auburger G, Orozco Diaz G, Capote RF, Sanchez SG, et al. Autosomal dominant ataxia: genetic evidence for locus heterogeneity from a Cuban founder-effect population. Am J Hum Genet 1990;46:1163–1177.
30. La Spada A, Wilson E, Lubahn D, et al. Androgen receptor gene mutations in X-linked spinal and bulbar atrophy. Nature 1991;352:77–79.
31. Verkerk A, Pieretti M, Sutcliffe S, et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 1991;65:905–914.
32. Brook JD, McCurrach M, Harley H, et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member. Cell 1992;68:799–808.
33. Fu Y-H, Pizzuti A, Fenwick R, et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy, my-otonin protein kinase. Science 1992;255:1256–1258.
34. Mahadevan M, Tsilfidis C, Sabourin L, et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of a candidate gene. Science 1992;255:1253–1255.
35. The Huntington disease collaborative research group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington disease chromosomes. Cell 1993;72:971–983.
36. Orr HT, Chung M-Y, Banfi S, et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature Genetics 1993;4:221–226.