The natural history of degenerative ataxia: A retrospective study in 466 patients

Brain

Volumn 121, Issue 4, 1998, Pages 589-600

  Klockgether, T ^a   Ludtke R ^a   Kramer, B ^a   Abele, M ^a   Burk K ^a   Schols L ^b   Riess, O ^b   Laccone, F ^c   Boesch, S ^d   Lopes Cendes, I ^e   Brice, A ^f   Inzelberg, R ^g   Zilber, N ^h   Dichgans, J ^a  

^a UNIVERSITY OF TÜBINGEN   (Germany)

^b RUHR UNIVERSITY BOCHUM   (Germany)

^c UNIVERSITY OF GÖTTINGEN   (Germany)

^d UNIVERSITY OF INNSBRUCK   (Austria)

^e Centre for Research in Neuroscience   (Canada)

^f PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^g HILLEL YAFFE MEDICAL CENTER   (Israel)

^h Ctr de Rech Francais de Jerusalem   (Israel)

Author keywords

Disease progression; Friedreich's ataxia; Multiple system atrophy; Spinocerebellar ataxia; Trinucleotide repeat

Indexed keywords

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CEREBELLAR ATAXIA; DISEASE CLASSIFICATION; DISEASE COURSE; FEMALE; FRIEDREICH ATAXIA; GAIT; GENETIC ANALYSIS; HEREDITARY ATAXIA; HUMAN; MAJOR CLINICAL STUDY; MALE; ONSET AGE; PRIORITY JOURNAL; PROGNOSIS; SEX DIFFERENCE; SHY DRAGER SYNDROME; SURVIVAL; WALKING AID; WHEELCHAIR;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; CEREBELLAR ATAXIA; CHILD; CHILD, PRESCHOOL; DISEASE PROGRESSION; FEMALE; FRIEDREICH ATAXIA; GAIT; HUMANS; MALE; MIDDLE AGED; MULTIPLE SYSTEM ATROPHY; PROGNOSIS; RETROSPECTIVE STUDIES; RISK FACTORS; SEX CHARACTERISTICS; SPINOCEREBELLAR DEGENERATIONS; SURVIVAL ANALYSIS; TIME FACTORS; TRINUCLEOTIDE REPEATS; WHEELCHAIRS;

EID: 6844236985     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/121.4.589     Document Type: Article

References (42)

1. Andersen PK, Borgan O, Gill RD, Keiding N. Statistical models based on counting processes. New York: Springer; 1993.
2. Ben-Shlomo Y, Wenning GK, Tison F, Quinn NP. Survival of patients with pathologically proven multiple system atrophy: a meta-analysis. Neurology 1997; 48: 384-93.
3. Campuzano V, Montermini L, Moltò MD, Pianese L, Cossée M, Cavalcanti F, et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion [see comments]. Science 1996; 271: 1423-7. Comment in: Science 1996; 271: 1374-5.
4. Campuzano V, Montermini L, Moltò MD, Pianese L, Cossée M, Cavalcanti F, et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion [see comments]. Science 1996; 271: 1423-7. Comment in: Science 1996; 271: 1374-5.
5. Chio A, Orsi L, Mortara P, Schiffer D. Reduced life expectancy in 40 cases of early onset cerebellar ataxia with retained tendon reflexes: a population-based study. Acta Neurol Scand 1993; 88: 358-62.
6. Cox DR. Regression models and life-tables (with discussion). J Roy Statist Soc B 1972; 34: 187-220.
7. De Michele G, Perrone F, Filla A, Mirante E, Giordano M, De Placido S, et al. Age of onset, sex, and cardiomyopathy as predictors of disability and survival in Friedreich's disease: a retrospective study on 119 patients. Neurology 1996; 47: 1260-4.
8. Dürr A, Cossee M, Agid Y, Campuzano V, Mignard C, Penet C, et al. Clinical and genetic abnormalities in patients with Friedreich's ataxia [see comments]. N Engl J Med 1996a; 335: 1169-75. Comment in: N Engl J Med 1996; 335: 1222-4, Comment in: N Engl J Med 1997; 336: 1021-2.
9. Dürr A, Cossee M, Agid Y, Campuzano V, Mignard C, Penet C, et al. Clinical and genetic abnormalities in patients with Friedreich's ataxia [see comments]. N Engl J Med 1996a; 335: 1169-75. Comment in: N Engl J Med 1996; 335: 1222-4, Comment in: N Engl J Med 1997; 336: 1021-2.
10. Dürr A, Cossee M, Agid Y, Campuzano V, Mignard C, Penet C, et al. Clinical and genetic abnormalities in patients with Friedreich's ataxia [see comments]. N Engl J Med 1996a; 335: 1169-75. Comment in: N Engl J Med 1996; 335: 1222-4, Comment in: N Engl J Med 1997; 336: 1021-2.
11. Dürr A, Stevanin G, Cancel G, Duyckaerts C, Abbas N, Didierjean O, et al. Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features. Ann Neurol 1996b; 39: 490-9.
12. n expansion and early premonitory signs and symptoms [see comments]. Neurology 1995; 45: 24-30. Comment in: Neurology 1995; 45: 1-5.
13. n expansion and early premonitory signs and symptoms [see comments]. Neurology 1995; 45: 24-30. Comment in: Neurology 1995; 45: 1-5.
14. Geoffroy G, Barbeau A, Breton G, Lemieux B, Aube M, Leger C, et al. Clinical description and roentgenologic evaluation of patients with Friedreich's ataxia. Can J Neurol Sci 1976; 3: 279-86.
15. Harding AE. Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain 1981a; 104: 589-620.
16. Harding AE. Early onset cerebellar ataxia with retained tendon reflexes: a clinical and genetic study of a disorder distinct from Friedreich's ataxia. J Neurol Neurosurg Psychiatry 1981b; 44: 503-8.
17. 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.
18. Harding AE. Classification of the hereditary ataxias and paraplegias. Lancet 1983; 1: 1151-5.
19. Imbert G, Saudou F, Yvert G, Devys D, Trottier Y, Garnier JM, et al. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats [see comments]. Nat Genet 1996; 14: 285-91. Comment in: Nat Genet 1996; 14: 237-8.
20. Imbert G, Saudou F, Yvert G, Devys D, Trottier Y, Garnier JM, et al. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats [see comments]. Nat Genet 1996; 14: 285-91. Comment in: Nat Genet 1996; 14: 237-8.
21. Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1 [see comments]. Nat Genet 1994; 8: 221-8. Comment in: Nat Genet 1994; 8: 213-5.
22. Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1 [see comments]. Nat Genet 1994; 8: 221-8. Comment in: Nat Genet 1994; 8: 213-5.
23. Klockgether T, Petersen D, Grodd W, Dichgans J. Early onset cerebellar ataxia with retained tendon reflexes. Clinical, electrophysiological and MRI observations in comparison with Friedreich's ataxia. Brain 1991; 114: 1559-73.
24. Klockgether T, Chamberlain S, Wüllner U, Fetter M, Dittmann H, Petersen D, et al. Late-onset Friedreich's ataxia. Molecular genetics, clinical neurophysiology, and magnetic resonance imaging. Arch Neurol 1993; 50: 803-6.
25. Klockgether T, Kramer B, Lüdtke R, Schöls L, Laccone F. Repeat length and disease progression in spinocerebellar ataxia type 3 [letter]. Lancet 1996a; 348: 830.
26. Klockgether T, Zühlke C, Schulz JB, Bürk K, Fetter M, Dittmann H, et al. Friedreich's ataxia with retained tendon reflexes: molecular genetics, clinical neurophysiology, and magnetic resonance imaging. Neurology 1996b; 46: 118-21.
27. Lantos PL, Papp MI. Cellular pathology of multiple system atrophy: a review [editorial]. [Review]. J Neurol Neurosurg Psychiatry 1994; 57: 129-33.
28. Leone M, Rocca WA, Rosso MG, Mantel N, Schoenberg BS, Schiffer D. Friedreich's disease: survival analysis in an Italian population. Neurology 1988; 38: 1433-8.
29. Norris F, Shepherd R, Denys E, U K, Mukai E, Elias L, et al. Onset, natural history and outcome in idiopathic adult motor neuron disease. J Neurol Sci 1993; 118: 48-55.
30. Orozco G, Estrada R, Perry TL, Arana J, Fernandez R, Gonzalez-Quevedo A, et al. Dominantly inherited olivopontocerebellar atrophy from eastern Cuba. Clinical, neuropathological, and biochemical findings. J Neurol Sci 1989; 93: 37-50.
31. Orr HT, Chung MY, Banfi S, Kwiatkowski TJ Jr, Servadio A, Beaudet AL, et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 1993; 4: 221-6.
32. Preux PM, Couratier P, Boutros-Toni F, Salle JY, Tabaraud F, Bernet-Bernady P, et al. Survival prediction in sporadic amyotrophic lateral sclerosis. Age and clinical form at onset are independent risk factors. Neuroepidemiology 1996; 15: 153-60.
33. Pulst SM, Nechiporuk A, Nechiporuk T, Gispert S, Chen XN, Lopes-Cendes I, et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2 [see comments]. Nat Genet 1996; 14: 269-76. Comment in: Nat Genet 1996; 14: 237-8.
34. Pulst SM, Nechiporuk A, Nechiporuk T, Gispert S, Chen XN, Lopes-Cendes I, et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2 [see comments]. Nat Genet 1996; 14: 269-76. Comment in: Nat Genet 1996; 14: 237-8.
35. Quinn N. Multiple system atrophy-the nature of the beast. J Neurol Neurosurg Psychiatry 1989; Suppl: 78-89.
36. Sanpei K, Takano H, Igarashi S, Sato T, Oyake M, Sasaki H, et al. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT [see comments]. Nat Genet 1996; 14: 277-84. Comment in: Nat Genet 1996; 14: 237-8.
37. Sanpei K, Takano H, Igarashi S, Sato T, Oyake M, Sasaki H, et al. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT [see comments]. Nat Genet 1996; 14: 277-84. Comment in: Nat Genet 1996; 14: 237-8.
38. Schulz JB, Klockgether T, Petersen D, Jauch M, Müller-Schauenburg W, Spieker S, et al. Multiple system atrophy: natural history, MRI morphology, and dopamine receptor imaging with 123IBZM-SPECT. J Neurol Neurosurg Psychiatry 1994; 57: 1047-56.
39. Takiyama Y, Oyanagi S, Kawashima S, Sakamoto H, Saito K, Yoshida M, 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: 1302-8.
40. Wenning GK, Ben-Shlomo Y, Magalhaes M, Daniel SE, Quinn NP. Clinical features and natural history of multiple system atrophy. An analysis of 100 cases. Brain 1994; 117: 835-45.
41. 1A-voltage-dependent calcium channel. Nat Genet 1997; 15: 62-9.
42. Zilber N, Inzelberg R, Kahana E, Korczyn AD. Natural course of idiopathic torsion dystonia among Jews. Neuroepidemiology 1994; 13: 195-201.