The hereditary ataxias

Journal of Neuropathology and Experimental Neurology

Volumn 57, Issue 6, 1998, Pages 531-543

  Koeppen, Arnulf H ^a,b  

^a Neurology Service (127)   (United States)

^b ALBANY MEDICAL COLLEGE   (United States)

Author keywords

Ataxins; Frataxin; Friedreich's ataxia; Genotype; Neuropathology; Olivopontocerebellar atrophy; Phenotype

Indexed keywords

ANIMAL TISSUE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; BRAIN TISSUE; DISEASE ASSOCIATION; DISEASE SEVERITY; FRIEDREICH ATAXIA; GENE MUTATION; HEREDITARY ATAXIA; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MACHADO JOSEPH DISEASE; MOLECULAR GENETICS; MOUSE; NEUROPATHOLOGY; NONHUMAN; OLIVOPONTOCEREBELLAR ATROPHY; PRIORITY JOURNAL; TRINUCLEOTIDE REPEAT;

EID: 0031802192     PISSN: 00223069     EISSN: None     Source Type: Journal    
DOI: 10.1097/00005072-199806000-00001     Document Type: Article

References (74)

1. Holmes G. An attempt to classify cerebellar disease, with a note on Marie's hereditary cerebellar ataxia. Brain 1907;30:545-67
2. Orr HT, Chung M.-Y, Banfi S, et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature Genet 1993;4:221-26
3. Bell J, Carmichael EA. On hereditary ataxia and spastic paraplegia. In: Fisher RA. The treasury of human inheritance. Vol. 4, Part III. Cambridge University Press; 1939:141-281
4. Schut J.W. Hereditary ataxia: Clinical study through six generations. Arch Neurol Psychiat 1950;63:535-68
5. Konigsmark BW, Weiner LP. The olivopontocerebellar atrophies: A review. Medicine 1970;49:227-41
6. Harding AE. The hereditary ataxias and related disorders. Edinburgh: Churchill Livingstone; 1984
7. Harding AE. Clinical features and classification of inherited ataxias. Adv Neurol 1993;61:1-14
8. Friedreich N. Ueber degenerative Atrophie der spinalen Hinterstränge. Virchows Arch Pathol Anat Physiol Klin Med 1863;26:126
9. Friedreich N. Ueber degenerative Atrophie der spinalen Hinterstränge. Virchows Arch Pathol Anat Physiol Klin Med 1863;26: 433-59
10. Friedreich N. Ueber Ataxie mit besonderer Berücksichtigung der hereditären Formen. Virchows Arch Pathol Anat Physiol Klin Med 1876:68:145-245
11. Friedreich N. Ueber Ataxie mit besonderer Berücksichtigung der hereditären Formen. Virchows Arch Pathol Anat Physiol Klin Med 1877:70:140-52
12. Menzel P. Beitrag zur Kenntnis der hereditären Ataxie und Kleinhirnatrophie. Arch Psychiat Nervenkrankh 1891:222:160-90
13. Marie P. Sur l'hérédo-ataxie cérébelleuse. Sem Med 1893:13: 44448
14. Greenfield JG. The spino-cerebellar degenerations. Oxford: Blackwell; 1954
15. Holmes G. A form of familial degeneration of the cerebellum. Brain 1907:30:466-89
16. Woods BT, Schaumburg HH. Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia. A unique and partially treatable clinicopathological entity. J Neural Sci 1972;17:149-66
17. Sakai T, Ohta M, Ishino H. Joseph disease in a non-Portuguese family. Neurology 1983:33:74-80
18. Hughes JT, Brownell B, Hewer RL. The peripheral sensory pathway in Friedreich's ataxia. Brain 1968:91:803-18
19. Urich H, Norman RM, Lloyd OC. Suprasegmental lesions in Friedreich's ataxia. Confin Neurol 1957:17:360-71
20. Oppenheimer DR. Brain lesions in Friedreich's ataxia. Can J Neurol Sci 1979;6:173-76
21. Wadia NH, Swami RK. A new form of heredo-familial spinocerebellar degeneration with slow eye movements (nine families). Brain 1971:94:359-74
22. Koeppen AH, Hans MB. Supranuclear ophthalmoplegia in olivopontocerebellar degeneration. Neurology 1976:26:764-68
23. Oilman S, Sima AAF, Junck L, et al. Spinocerebellar ataxia type 1 with multiple system degeneration and glial cytoplasmic inclusions. Ann Neurol 1996:39:241-55
24. Coutinho P, Guimarâes A, Scaravilli F. The pathology of MachadoJoseph disease. Acta Neuropathol (Berlin) 1982:58:48-54
25. Jackson JJ, Currier RD, Terasaki P, et al. Spinocerebellar ataxia and HLA linkage. N Engl J Med 1977:296:1138-41
26. Yakura H, Wakisaka A, Fujimoto S, et al. Hereditary ataxia and HL-A genotype. N Engl J Med 1974:291:154-55
27. Ranum LPW, Lundgren JK, Schut LJ, et al. Spinocerebellar ataxia type I and Machado-Joseph disease: Incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadicjuaxia. Am J Hum Genet 1995:57:603-8
28. Rosenberg RN. Autosomal dominant cerebellar phenotypes: The genotype has settled the issue. Neurology 1995:45:1-5
29. Koshy BT, Zoghbi HY. The CAG/polyglutamine tract diseases: Gene products and molecular pathogenesis. Brain Pathol. 1997;7: 927-42
30. Twist E, Casaubon LK, Ruttledge MH, et al. Machado-Joseph disease maps to the same region of chromosome 14 as the Spinocerebellar ataxia type 3 locus. J Med Genet 1995:32:25-31
31. Matilla T, McCall A, Subramony SH, et al. Molecular and clinical correlations in Spinocerebellar ataxia type 3 and Machado-Joseph disease. Ann Neurol 1995:38:68-72
32. Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993:72:971-83
33. Pulst S-M, Nechiporuk A, Nechiporuk T, et al. Moderate expansion of normally biallelic trinucleotide repeat in Spinocerebellar ataxia type 2. Nature Genet 1996; 14:269-75
34. Kawaguchi Y, Okamoto T, Taniwaki M, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nature Genet 1994;8:221-27
35. Zhuchenko O, Bailey J, Bonnen P, et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the a,A-voltage-dependent calcium channel, Nature Genet 1997:15:62-69
36. David G, Abbas N, Stevanin G, et al. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nature Genet 1997:17:65-70
37. Zoghbi HY. CAG repeats in SCA6. Neurology 1997:49:1196-99
38. Lang AE, Rogaeva EA, Tsuda T, et al. Homozygous inheritance of the Machado-Joseph disease gene. Ann Neurol 1994;36:443-47
39. Lerer I, Merims D, Abeliovich D, et al. Machado-Joseph disease: Correlation between the clinical features, the CAG repeat length and homozygosity for the mutation. Eur J Hum Genet 1996;4:3-7
40. Sobue G, Doyu M, Nakao N, et al. Homozygosity for MachadoJoseph disease gene enhances phenotypic severity. J Neurol Neurosurg Psychiat 1996;60:354-56
41. Matsumura R, Futamura N, Fujimoto N, et al. Spinocerebellar ataxia type 6. Molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion. Neurology 1997;49:1238-43
42. Dubourg O, Dürr A, Cancel G, et al. Analysis of the SCA1 CAG repeat in a large number of families with dominant ataxia: Clinical and molecular correlations. Ann Neurol 1995;37:176-80
43. Watanabe M, Koji A, Aoki M, et al. Analysis of CAG trinucleotide expansion associated with Machado-Joseph disease. J Neurol Sci 1996;136:101-7
44. Chamberlain S, Shaw J, Rowland A, et al. Mapping of mutation causing Friedreich's ataxia to human chromosome 9. Nature 1988; 334:248-50
45. Campuzano V, Montermini L, Molto MD, et ai. Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996;271:1423-26
46. Carjaval JJ, Pook MA, Dos Santos M, et al. The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4-phosphate-5-kinase. Nature Genet 1996;14:157-62
47. Dürr A, Cessée M, Agid Y, et al. Clinical and genetic abnormalities in patients with Friedreich's ataxia. New Engl J Med 1996;335: 1169-75
48. Montermini L, Richter A, Morgan K, et al. Phenotypic variability in Friedreich ataxia: Role of the associated GAA triplet repeat expansion. Ann Neurol 1997;41:675-82
49. Ben Hamida M, Bêlai S, Sirugo G, et al. Friedreich's ataxia phenotype not linked to chromosome 9 and associated with selective autosomal recessive vitamin E deficiency in two inbred Tunisian families. Neurology 1993;43:2179-83
50. Ouahchi K, Arita M, Kayden H, et al. Ataxia with isolated vitamin E deficiency is caused by mutations in the oc-tocopherol transfer protein. Nature Genet 1995;9:141-45
51. Babcock M, de Suva D, Oaks R, et al. Regulation of mitochondrial iron accumulation of Yfhlp, a putative homolog of frataxin. Science 1997;276:1709-12
52. Koutnikowa H, Campuzano V, Foury F, et al. Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin. Nature Genet 1997;16:345-51
53. Priller J, Scherzer CR, Faber PW, et al. Frataxin gene of Friedreich's ataxia is targeted to mitochondria. Ann Neurol 1997;42:265-69
54. Campuzano V, Montermini L, Lutz Y, et al. Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. Hum Mol Genet 1997;6:1771-80
55. Rötig A, de Lonlay P, Chrétien D, et al. Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nature Genet 1997;17:215-17
56. Lamarche JB, Shapcott D, Côté M, et al. Cardiac iron deposits in Friedreich's ataxia. In: Lechtenberg R. Handbook of cerebellar diseases. New York: Dekker 1993:453-57
57. Banfi S, Servadio A, Chung M.-Y, et al. Identification and characterization of the gene causing type 1 spinocerebellar ataxia. Nature Genet. 1994;7:513-20
58. Servadio A, Koshy B, Armstrong D, et al. Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals. Nature Genet 1995;10:94-98
59. Davies W, Turmaine M, Cozens BA, et al. Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation. Cell 1997;90:537-48
60. Paulson HL, Das SS, Crino PB, et al. Machado-Joseph disease gene product is a cytoplasmic protein widely expressed in brain. Ann Neurol 1997;41:453-62
61. Paulson HL, Perez MK, Trottier Y, et al. Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3. Neuron 1997;19:333-44
62. Burright EN, Clark HB, Servadio A, et al. SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat. Cell 1995;82:937-48
63. Ikeda H, Yamaguchi M., Sugai S, et al. Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo. Nature Genet 1996:13:196-202
64. Lopes-Cendes I, Maciel P, Kish S, et al. Somatic mosaicism in the central nervous system in spinocerebellar ataxia type 1 and Machado-Joseph disease. Ann Neurol 1996;40:199-206
65. Hashida H, Goto J, Kurisaki H, et al. Brain regional differences in the expansion of a CAG repeat in the spinocerebellar ataxias: Dentatorubral-pallidoluysian atrophy, Machado-Joseph disease, and spinocerebellar ataxia type 1. Ann Neurol 1997;41:505-11
66. 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: 933-50
67. Ikeuchi T, Takano H, Koide R, et al. Spinocerebellar ataxia type 6: CAG repeat expansion in a,A voltage-dependent calcium channel gene and clinical variations in Japanese population. Ann. Neurol. 1997;42:879-84
68. Subramony SH, Fratkin JD, Manyam VV, et al. Dominantly inherited cerebello-olivary atrophy is not due to a mutation at the spinocerebellar ataxia-1, Machado-Joseph disease or dentato-rubropallido-luysian atrophy locus. Mov Disord 1996;! 1:174-80
69. Larnaout A, Bêlai S, Zouari M, et al. Friedreich's ataxia with isolated vitamin E deficiency: A neuropathological study of a Tunisian patient. Acta Neuropathol. (Berlin) 1997;93:633-37
70. Becker PE, Sabuncu N, Hopf HC. Dominant erblicher Typ von "cerebellarer Ataxie". Z Neurol 1971;199:116-39
71. Robitaille Y, Schut L, Kish Si. Structural and immunocytochemical features of olivopontocerebellar atrophy caused by the spinocerebellar ataxia type 1 (SCA-1) mutation define a unique phenotype. Acta Neuropathol (Berlin) 1995;90:572-81
72. Gouw LG, Digre KB, Harris CP, et al. Autosomal dominant cerebellar ataxia with retinal degeneration: Clinical, neuropathological, and genetic analysis of a large kindred. Neurology 1994;44:1441-47
73. Zühlke C, Hellenbroich Y, Schaaff F, et al. CAG repeat analyses in frozen and formalin-fixed tissues following primer extension preamplification for evaluation of mitotic stability of expanded SCA1 alleles. Hum Genet 1997:100:339-44
74. Imbert G, Saudou F, Yvert G, et al. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nature Genet 1996;14:285-91