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

Volumn 104, Issue 3, 1981, Pages 589-620

  Harding, A E ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AGE; ATAXIA; BONE; CARDIOMYOPATHY; CENTRAL NERVOUS SYSTEM; DIABETES MELLITUS; ELECTROCARDIOGRAPHY; ENDOCRINE SYSTEM; ETIOLOGY; FRIEDREICH ATAXIA; GENETIC ANALYSIS; HEARING IMPAIRMENT; HEART; HEREDITY; INHERITANCE; MAJOR CLINICAL STUDY; ONSET AGE; OPTIC NERVE ATROPHY; PERIPHERAL NERVOUS SYSTEM; SCOLIOSIS; TENDON REFLEX; VISUAL SYSTEM;

ADOLESCENT; ADULT; AGED; CHILD; DIABETES MELLITUS; FEMALE; FRIEDREICH ATAXIA; HEART DISEASES; HUMAN; MALE; MIDDLE AGE; NEURAL CONDUCTION; SUPPORT, NON-U.S. GOV'T;

EID: 0019782799     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/104.3.589     Document Type: Article

References (93)

1. Andermann, E., Remillard, G. M., Goyer, G., Blitzer, L. and Barbeau, A. (1976) Genetic and family studies in Friedreich’s ataxia. Canadian Journal of the Neurological Sciences, 3, 287-302
2. Ashby, D. W. and Tweedy, P. S. (1953) Friedreich’s ataxia combined with diabetes mellitus in sisters. British Medical Journal, 1, 1418-1421
3. Barbeau, A., Le Seige, M., Breton, G., Coallier, R. and Bouchard, J. P. (1976) Friedreich’s ataxia: preliminary results of some genealogical research. Canadian Journal of the NeurologicalSciences, 3, 303-306
4. Barrett, T. M. (1927) Friedreich’s ataxia. Clinical and postmortem study of two cases in brothers at different stages of the disease. Archives of Neurology and Psychiatry, Chicago, 17, 28-43
5. Beauchesne, R. (1936) Sur un cas de maladie familiale a predominance spinale. Sud Medicine et Chirugerie, 68, 1179-1184
6. Bell, J. and Carmichael, E. A. (1939) On hereditary ataxia and spastic paraplegia. In: Treasury of Human Inheritance, Cambridge University Press. Volume 4, Part 21, pp. 141-281
7. Benard, R., Grossiord, A., Gruner, J. and Hoppeler, A. (1952) Sur une forme particuliere de maladie familiale du systeme nerveux apparentee aux maladies de Friedreich et de Charcot-Marie. Deux observations anatomocliniques. Revue Neurologique, 86, 800-818
8. Berg, R. A., Kaplan, A. M., Jarrett, P. B. and Molthan, M. E. (1980) Friedreich’s ataxia with acute cardiomyopathy. American Journal of Diseases of Childhood, 134, 390-393
9. Bing, R. (1905) Eine kombinierte Form der heredofamiliaren Nervenkrankheiten. Deutsche Archivfur klinische Medicin, 83, 199-243
10. Bouchard, J. P., Barbeau, A., Bouchard, R., Paquet, M. and Bouchard, R. W. (1979) A cluster of Friedreich’s ataxia in Rimouski, Quebec. Canadian Journal of the Neurological Sciences, 6, 205-208
11. Brousse, M. (1882) De l’ataxie hereditaire. These de Montpelier (quoted by Ladame (1890))
12. Carroll, W. M., Kriss, A., Baraitser, M., Barrett, G. and Halliday, A. M. (1980) The incidence and nature of visual pathway involvement in Friedreich’s ataxia. Brain, 103, 413-434
13. Charcot, J. M. and Marie, P. (1886) Sur une forme particuliere d’atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Revuede Medecine, Paris, 6, 97-138
14. Cote, M., Larose, A., Cimon, M. and Lemieux, B. (1979) Cardiovascular evaluation of obligate heterozygotes in Friedreich’s ataxia. Canadian Journal of the Neurological Sciences, 6, 147-149
15. Crow, J. F. (1963) Problems of ascertainment in the analysis of family data. In: Genetics and the Epidemiology of Chronic Diseases. Edited by J. V. Neel, M. W. Shaw and W. J. Schull.Washington: Public Health Service Publication No. 1163, pp. 23-44
16. Darre, H., Mollaret, P. and Landowski, M. (1933) La maladie de Roussy-Levy, n’est-elle qu’une forme fruste ou qu’une forme abortive de la maladie de Friedreich? Revue Neurologique, 60, 782-793
17. Davies, D. L. (1949) The intelligence of patients with Friedreich’s ataxia. Journal of Neurology, Neurosurgery and Psychiatry, 12, 34-38
18. Dereux, M. J. (1948) Notes complementaires sur la maladie de Roussy-Levy (dystasie areflexique hereditaire). Revue Neurologique, 80, 32-35
19. Donner, A. and Koval, J. J. (1980) The estimation of intraclass correlation in the analysis of family data. Biometrics, 36, 19-25
20. Dunn, H. G. (1973) Nerve conduction studies in children with Friedreich’s ataxia and ataxia-telangiectasia. Developmental Medicine and Child Neurology, 15, 324-337
21. Dyck, P. J. and Lambert, E. H. (1968a) Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic and electrophysiological findings inhereditary polyneuropathies. Archives of Neurology, Chicago, 18, 603-618
22. Dyck, P. J. and Lambert, E. H.(1968) Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. 2. Neurologic, genetic and electrophysiologic findings in various neuronal degenerations. Archives of Neurology, Chicago, 18, 619-625
23. Erb, W. H. (1875) Uber Sehnenreflexe bei Gesunden und bei R2ckenmarkskranken. Archiv fur Psychiatrie und Nervenkrankenheit, 5, 792-802
24. Evans, W. (1949) Familial cardiomegaly. British Heart Journal, 11, 68-82
25. Evans, W. and Wright, G. (1942) The electrocardiogram in Friedreich disease. British Heart Journal, 4, 91-99
26. Ferguson, F. R. and Critchley, M. (1928) Leber’s optic atrophy and its relationship with the heredofamilial ataxias. Journal of Neurology and Psychopathology, 9, 120-132
27. Friedreich, N. (1863a) Uber degenerative Atrophie der spinalen Hinterstrange. Virchow's Archiv fur Pathologische Anatomie und Physiologie und fur Klinische Medicin, 26, 391-419
28. Friedreich, N. (1863) Uber degenerative Atrophie der spinalen Hinterstrange. Virchow’s Archiv fur Pathologische Anatomie und Physiologie und fur Klinische Medicin, 26, 433-459
29. Friedreich, N. (1863c) Uber degenerative Atrophie der spinalen Hinterstrange. Virchow’s Archiv fur Pathologische Anatomie und Physiologie undfur Klinische Medicin, 27, 1-26
30. Friedreich, N. (1876) Uber ataxie mit besonderer ber2cksichtigung der hereditaren formen. Virchow’s
31. Friedreich, N. Archiv fur Pathologische Anatomie und Physiologie und fur Klinische Medicin, 68, 145-245
32. Friedreich, N. (1877) Uber ataxie mit besonderer ber2cksichtigung der hereditaren formen. Virchow’s Archiv fur Pathologische Anatomie und Physiologie und fur Klinische Medicin, 70, 140-152
33. Geoffroy, G., Barbeau, A., Breton, A., Lemieux, B., Aube, M., Leger, C. and Bouchard, J. B. (1976) Clinical description and roentgenologic evaluation of patients with Friedreich’sataxia. Canadian Journal of the Neurological Sciences, 3, 279-286
34. Gilbert, G. J. (1962) Familial ataxia with atrophy. World Neurology, 3, 753-764
35. Greenfield, J. G. (1911) Case of peroneal atrophy, with signs of Friedreich’s disease. Proceedings of the Royal Society of Medicine, 5, (Neurology Section), 75-76
36. Greenfield, J. G. (1954) The Spino-cerebellar Degenerations. Oxford: Blackwell
37. Guillain, G. and Mollaret, P. (1932) Le syndrome cardiobulbaire de la maladie de Friedreich. Presse Medicate, 40 (2), 1621-1624
38. Harding, A. E. (1981) Early onset cerebellar ataxia with retained tendon reflexes: a clinical and genetic study of a disorder distinct from Friedreich’s ataxia. Journal of Neurology, Neurosurgery andPsychiatry. In press
39. Harding, A. E. and Thomas, P. K. (1980a) The clinical features of hereditary motor and sensory neuropathy types I and 2. Brain, 103, 259-280
40. Harding, A. E. (1980) Autosomal recessive forms of hereditary motor and sensory neuropathy. Journal of Neurology, Neurosurgery and Psychiatry, 43, 669-678
41. Harding, A. E. and Zilkha, K. J. (1981) ‘Pseudo-dominant’ inheritance in Friedreich’s ataxia. Journal of Medical Genetics. In press
42. Heck, A. F. (1963) Heart disease in Friedreich’s ataxia. Part 1. Clinical studies and review of the literature. Neurology, Minneapolis, 13, 587-595
43. Hewer, R. L. (1968) Study of fatal cases of Friedreich’s ataxia. British Medical Journal, 3, 649-652
44. Hewer, R. L. (1969) The heart in Friedreich’s ataxia. British Heart Journal, 31, 5-14
45. Hewer, R. L. and Robinson, N. (1968) Diabetes mellitus in Friedreich’s ataxia. Journal of Neurology, Neurosurgery and Psychiatry, 31, 226-231
46. Hodge, G. (1897) Three cases of Friedreich’s disease all presenting marked increase of the knee jerk. British Medical Journal, 1, 1405-1406
47. Hunt, J. R. (1921) Dyssynergia cerebellaris myoclonica-primary atrophy of the dentate system. Brain, 44, 490-538
48. James, T. N. and Fisch, C. (1963) Observations on the cardiovascular involvement in Friedreich’s ataxia. American Heart Journal, 66, 164-175
49. Joffe, B. I., Segal, I. and Cooper, W. (1973) Evolution of diabetes mellitus in a case of Friedreich’s ataxia. Journal of Neurology, Neurosurgery and Psychiatry, 36, 484-485
50. Kirkham, T. H., Guitton, D., Katsarkas, A., Kline, L. B. and Andermann, E. (1979) Oculomoter abnormalities in Friedreich’s ataxia. Canadian Journal of the Neurological Sciences, 6, 167-172
51. Ladame, P. (1890) Friedreich’s disease. Brain, 13, 467-537
52. Lapresle, J. and Salisachs, P. (1973) Onion bulbs in a nerve biopsy specimen from an original case of Roussy-Levy disease. Archives of Neurology, Chicago, 29, 346-348
53. Mackay, H. (1898) Pathology of a case of Friedreich’s disease. Brain, 21, 435-474
54. McLeod, J. G. (1971) An electrophysiological and pathological study of peripheral nerves in Friedreich’s ataxia. Journal of the Neurological Sciences, 12, 339-349
55. Malo, S., Latour, Y., Cote, M., Geoffroy, G., Lemieux, B. and Barbeau, A. (1976) Electrocardiographic and vectocardiographic findings in Friedreich’s ataxia. Canadian Journal of the Neurological Sciences, 3, 323-328
56. Manning, G. W. (1950) Cardiac manifestations in Friedreich’s ataxia. American Heart Journal, 39, 799-816
57. Marie, P. (1892) Lectures on Diseases of the Spinal Cord. Translated by M. Lubbock. London: The New Sydenham Society, p. 385
58. Mollaret, P. (1929) La Maladie de Friedreich: Etude Physio-Clinique. Paris: Legrand
59. Oppenheimer, D. R. (1979) Brain lesions in Friedreich’s ataxia. Canadian Journal of the Neurological Sciences, 6, 173-176
60. Podolsky, S., Pothier, A. and Krall, L. P. (1964) Association of diabetes mellitus and Friedreich’s ataxia. Archives of Internal Medicine, 114, 533-537
61. Renold, A. E., Mintz, D. H., Muller, W. A. and Cahill, G. F. (1978) Diabetes mellitus. In: The Metabolic Basis of Inherited Disease. Edited by J. B. Stanbury, J. B. Wyngaarden andD. S. Fredrickson. New York: McGraw-Hill, pp. 80-109
62. Rombold, C. R. and Riley, H. A. (1926) The abortive type of Friedreich’s disease. Archives of Neurology and Psychiatry, Chicago, 16, 301-312
63. Rose, F. C., Fraser, G. R., Friedmann, A. I. and Kohner, E. M. (1966) The association of juvenile diabetes mellitus and optic atrophy: clinical and genetical aspects. Quarterly Journal ofMedicine, 35, 385-405
64. Roth, M. (1948) On a possible relationship between hereditary ataxia and peroneal muscular atrophy with a critical review of the problems of‘intermediate forms’ in the degenerative disorders ofthe central nervous system. Brain, 71, 416-433
65. Roussy, G. and Levy, G. (1926) Sept cas d’une maladie familiale particuliere. Revue Neurologique, 33, 427-450
66. Salisachs, P. (1974) La historia natural de la enfermedad de Friedreich. A proposito de 13 casos. Medicina Clinica, 63, 1-10
67. Saunders, P. W. (1913) Sensory changes in Friedreich’s disease. Brain, 36, 166-192
68. Schamroth, L. (1976) An Introduction to Electrocardiography. Fifth Edition. Oxford: Blackwell, pp. 104-106
69. Schlezinger, N. S. and Goldstein, K. (1940) Friedreich’s ataxia associated with diabetes mellitus. New York State Journal of Medicine, 40 (1), 415-423
70. Schut, J. W. (1950) Hereditary ataxia: Clinical study through six generations. Archives of Neurology and Psychiatry, Chicago, 63, 535-568
71. Shapcott, D., Melancon, S., Butterworth, R. F., Khoury, K., Collu, R., Breton, G., Geoffroy, G., Lemieux, B. and Barbeau, A. (1976) Glucose and insulin metabolism in Friedreich’sataxia. Canadian Journal of the Neurological Sciences, 3, 361-364
72. Shepherd, M. (1955) Report of a family suffering from Friedreich’s disease, peroneal muscular atrophy and schizophrenia. Journal of Neurology, Neurosurgery and Psychiatry, 18, 297-304
73. Sherman, I. (1934) Friedreich’s disease. A report of 2 unusual cases. Archives of Neurology and Psychiatry Chicago, 32, 1282-1285
74. Sjogren, T. (1943) Klinische und erbiologische Untersuchungen fiber die Heredoataxien. Acta Psychiatria Neurologica Scandinavica, 27 (Supp.), 1-200
75. Skre, H. (1975) Friedreich’s ataxia in Western Norway, Clinical Genetics, 7, 287-298
76. Smith, W. E. (1885) Hereditary or degenerative ataxia. Six cases in one family-death of one case and autopsy. Boston Medical.and Surgical Journal. 113, 361-368
77. Soca, F. V. (1888) Etude clinique de la maladie de Friedreich. These de Paris (quoted by Ladame (1890) and Marie (1892))
78. Spillane, J. D. (1940) Familial pes cavus and absent tendon jerks: its relationship with Friedreich’s disease and peroneal muscular atrophy. Brain, 63, 275-290
79. Spiller, W. G. (1910) Friedreich’s ataxia. Journal of Nervous and Mental Diseases, 37, 411-435
80. Stephens, J., Hoover, M. L. and Denst, J. (1958) On familial ataxia, neural amyotrophy and their association with progressive external ophthalmoplegia. Brain, 81, 556-566
81. Symonds, C. P. and Shaw, M. E. (1926) Familial claw-foot with absent tendon jerks: a ‘forme-fruste’ of the Charcot-Marie-Tooth disease. Brain, 49, 387-403
82. Thomas, P. K., Sears, T. A. and Gilliatt, R. W. (1959) The range of conduction velocity in normal motor nerve fibres to the small muscles of the hand and foot. Journal of Neurology, Neurosurgery and Psychiatry, 22, 175-181
83. Thoren, C. (1962) Diabetes mellitus in Friedreich’s ataxia. Acta Paediatrica, Uppsala, 135 (Suppl.), 239-247
84. Thoren, C. (1964) Cardiomyopathy in Friedreich’s ataxia. Acta Paediatrica, Uppsala, 53 (Suppl. 153), 1-136
85. Tooth, H. H. (1886) The Peroneal Type of Progressive Muscular Atrophy. London: H. K. Lewis
86. Tyrer, J. H. (1975) Friedreich’s ataxia. In: Handbook of Clinical Neurology. Edited by P. J. Vinken and G. W. Bruyn. Amsterdam: North Holland Publishing Company, Volume 21, pp. 319-364
87. Tyrer, J. H. and Sutherland, J. M. (1961) The primary spinocerebellar atrophies and their associated defects, with a study of the foot deformity. Brain, 84, 289-300
88. Urich, H., Norman, R. M. and Lloyd, O. C. (1957) Suprasegmental lesions in Friedreich’s ataxia. Confinia Neurologica, Basel, 17, 360-371
89. van Bogaert, L. and Moreau, M. (1939) Combinaison de l’amyotrophie de Charcot-Marie-Tooth et de la maladie de Friedreich chez plusieurs membres d’une meme famille. Encephale, 34, 312-320
90. Weinberg, W. (1927) Mathematische Grundlagen der Probandenmethode. Zeitschrift fur Induktive Abstammungs und Vererbungslehre, 48, 179-228
91. Whyte, J. M. (1898) Four cases of Friedreich’s ataxia with a critical digest of recent literature on the subject. Brain, 21, 72-136
92. Wilson, S. A. K. (1940) Neurology. Edited by A. N. Bruce. London: Arnold, pp. 943-946
93. Winter, R. M., Harding, A. E., Baraitser, M. and Bravery, M. B. (1981) Intrafamilial correlation in Friedreich’s ataxia. Submitted for publication