Hostname: page-component-6bf8c574d5-7jkgd Total loading time: 0 Render date: 2025-02-22T22:15:05.189Z Has data issue: false hasContentIssue false
  • English
  • Français

Clinical Description and Roentgenologic Evaluation of Patients with Friedreich's Ataxia

Published online by Cambridge University Press:  18 September 2015

G. Geoffroy ,
A. Barbeau ,
G. Breton ,
B. Lemieux ,
M. Aube ,
C. Leger  and
J.P. Bouchard
G. Geoffroy
Affiliation:
Hôpital Ste-Justine, Montreal; the Clinical Research Institute of Montreal; the Centre Hospitalier Universitaire de Sherbrooke; the Hôpital Hôtel-Dieu de Montréal, and the Hôpital de I’Enfant-Jésus, Quebec City
A. Barbeau*
Affiliation:
Hôpital Ste-Justine, Montreal; the Clinical Research Institute of Montreal; the Centre Hospitalier Universitaire de Sherbrooke; the Hôpital Hôtel-Dieu de Montréal, and the Hôpital de I’Enfant-Jésus, Quebec City
G. Breton
Affiliation:
Hôpital Ste-Justine, Montreal; the Clinical Research Institute of Montreal; the Centre Hospitalier Universitaire de Sherbrooke; the Hôpital Hôtel-Dieu de Montréal, and the Hôpital de I’Enfant-Jésus, Quebec City
B. Lemieux
Affiliation:
Hôpital Ste-Justine, Montreal; the Clinical Research Institute of Montreal; the Centre Hospitalier Universitaire de Sherbrooke; the Hôpital Hôtel-Dieu de Montréal, and the Hôpital de I’Enfant-Jésus, Quebec City
M. Aube
Affiliation:
Hôpital Ste-Justine, Montreal; the Clinical Research Institute of Montreal; the Centre Hospitalier Universitaire de Sherbrooke; the Hôpital Hôtel-Dieu de Montréal, and the Hôpital de I’Enfant-Jésus, Quebec City
C. Leger
Affiliation:
Hôpital Ste-Justine, Montreal; the Clinical Research Institute of Montreal; the Centre Hospitalier Universitaire de Sherbrooke; the Hôpital Hôtel-Dieu de Montréal, and the Hôpital de I’Enfant-Jésus, Quebec City
J.P. Bouchard
Affiliation:
Hôpital Ste-Justine, Montreal; the Clinical Research Institute of Montreal; the Centre Hospitalier Universitaire de Sherbrooke; the Hôpital Hôtel-Dieu de Montréal, and the Hôpital de I’Enfant-Jésus, Quebec City
*
Clinical Research Institute of Montreal, 110 Pine Avenue West, Montreal, Quebec, Canada H2W 1R7
Rights & Permissions [Opens in a new window]

Summary:

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

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
Information
Canadian Journal of Neurological Sciences , Volume 3 , Issue 4 , November 1976 , pp. 279 - 286
Copyright
Copyright © Canadian Neurological Sciences Federation 1976

References

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
Hewer, R.L. (1968). Study of fatal cases of Friedreich's ataxia. Brit. Med. J., 3. 648–652.CrossRefGoogle ScholarPubMed
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
Saunders, P.W. (1913). Sensory changes in Friedreich’s disease. Brain. 36, 166–192.CrossRefGoogle Scholar
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