Clinical Description and Roentgenologic Evaluation of Patients with Friedreich's Ataxia | Canadian Journal of Neurological Sciences | Cambridge Core (original) (raw)

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The 50 patients in this survey were classified by a panel of neurologists into 4 clinical sub-groups: Group la (“typical” Friedreich's ataxia, complete picture), Group lb (“typical” Friedreich's ataxia, incomplete picture), Group Ila (“atypical” Friedreich's ataxia, possible recessive Roussy-Levy syndrome), Group lib (heterogeneous ataxias). The clinical symptoms and signs were analyzed for each of these groups. A constellation of signs constantly present in Friedreich's ataxia and obligatory for diagnosis was described. Other important symptoms, such as the Babinski sign, kyphoscoliosis and pes cavus were found to be progressive, but not essential for the diagnosis at any given time. Finally, a host of other symptoms can only be called accessory. The progression of scoliosis was found to be an important tool in the differential diagnosis of ataxias. Our study also indicates, in contrast to the opinion of some authors, that absent deep tendon reflexes in the lower limbs and early dysarthria are essential in “typical” Friedreich's ataxia.

Type

Quebec Cooperative Study of Friedreich's Ataxia

Copyright

Copyright © Canadian Neurological Sciences Federation 1976

References

Bell, J.M., and Carmichael, E.A. (1939). On hereditary ataxia and spastic paraplegia. In: Treasury of Human Inheritance, Vol. 4, Cambridge Press, London, pp. 141–284.Google Scholar

Boyer, S.H., Chisholm, A.W., and McKusick, V.A. (1962). Cardiac aspects of Friedreich’s ataxia. Circulation, 25, 493–505.CrossRefGoogle ScholarPubMed

Brain, L., and Walton, J.N. (1969). Brain’s diseases of the nervous system. Oxford University Press, London, 589–591.Google Scholar

Brown, J.R. (1962). Diseases of the cerebellum. In: Clinical Neurology, Vol. 3, Harper Bros., New York (Baker, A. B., ed.), 1406–1455.Google Scholar

Brown, J.R. (1970). Ataxic dysarthria. Internat. J. Neurol., 7, 302–318.Google Scholar

Cobb, J.R. (1948). Outline for study of scoliosis. Am. Acad. Orthop. Surg., 5, 261–275.Google Scholar

Davies, D. (1949a). Ataxie de Friedreich et troubles psychiques. J. of Neurol. Neurosurg. Psychiat., 12(3), 246–250.CrossRefGoogle Scholar

Davies, D. (1949b). L’état mental des malades présentant de l’ataxie de Friedreich. J. Neurol. Neurosurg. Psychiat., 12(1). 34–38.CrossRefGoogle Scholar

Dyck, P.J., and Lambert, E.H. (1968). Lower motor and primary sensory neuron disease with peroneal muscular atrophy. Part II (neurologic, genetic and electrophysiologic findings in various neuronal degenerations). Arch. Neurol, (chic), 18, 619–625.CrossRefGoogle Scholar

Ferguson, A.B. (1945). Roentgen diagnosis of the extremities and spine. Paul, B. Hoeber, Inc., New York, pp. 261–275.Google Scholar

Friedreich, N. (1863a). Ueber degenerative atrophie der spinalen hinterstränge. Virchows Arch. Path. Anat., 26, 391–419.CrossRefGoogle Scholar

Friedreich, N. (1863a). Ueber degenerative atrophie der spinalen hinterstränge. Virchows Arch. Path. Anat., 26, 433–459.CrossRefGoogle Scholar

Friedreich, N. (1863a). Ueber degenerative atrophie der spinalen hinterstränge. Virchows Arch. Path. Anat., 27, 1–26.CrossRefGoogle Scholar

Friedreich, N. (1863a). Ueber degenerative atrophie der spinalen hinterstränge. Virchows Arch. Path. Anat., 68. 145–245.CrossRefGoogle Scholar

Gach, J.V.. Andriange, M.. and Franck, G. (1971). Hypertrophic obstructive cardiomyopathy and Friedreich’s ataxia. Amer. J. Cardiol.. 27. 436.CrossRefGoogle ScholarPubMed

Greenfield, J.G. (1954). The spinocerebellar degenerations. Blackwell Scient. Pubi., Oxford.Google Scholar

Hartman, J.W., and Booth, R.W. (1960) . Friedreich’s ataxia: A neurocardiac disease. Amer. Heart J., 60, 716–720.CrossRefGoogle ScholarPubMed

Heck, A.F. (1964). A study of neural and extraneural finding in a large family with Friedreich’s ataxia. J. Neurol. Sci., 1, 226–255.CrossRefGoogle Scholar

Mollaret, P. (1929). La maladie de Friedreich. Etude physio-clinique. Thése de Paris. Vol. 32 (Legrand, A. Ed.).Google Scholar

Nadas, A.S., Alimuring, M.M., and Sieracki, L.A. (1951). Cardiac manifestations of Friedreich’s ataxia. New England J. Med., 244, 239–244.CrossRefGoogle ScholarPubMed

Schilero, A.J.. Antzis, E., and Dunn, I. (1952). Friedreich’s ataxia and its cardiac manifestations. Amer. Heart J.. 44, 805–822.CrossRefGoogle ScholarPubMed

Sjogren, T. (1943). Klinische and erb-biologische untersuchungen über die heredoataxien. Acta Psychiatrica et Neurologica, 27 1–197.Google Scholar

Soulie, P., and Vernan, P. (1965). Aspects cardiaques de la maladie de Friedreich. Coeur et Médecine Interne, 4, 311–319.Google Scholar

Thoren, C. (1964). Cardiomyopathy in Friedreich’s ataxia with studies of cardiovascular and respiratory function. Acta Paediatr. Scand., 53, suppl.153, 1.CrossRefGoogle ScholarPubMed

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.CrossRefGoogle ScholarPubMed

Tyrer, J.H. (1975). Friedreich’s ataxia. Handbook of Clinical Neurology. 21, 319–364.Google Scholar

Wilson, S.A.K. (1954). Friedreich’s disease. In: Neurology, vol. 2. Butterworth and Co. (publishers), London, (Bruce. A. N., ed.), 1078–1091.Google Scholar