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Study of a Family with Progressive Ataxia, Tremor and Severe Distal Amyotrophy

Published online by Cambridge University Press:  18 September 2015

J. Bouchard ,
P. Bedard  and
R. Bouchard
J. Bouchard
Affiliation:
Département des sciences neurologiques, et Centre de Recherche en neurobiologie, Hôpital de l'Enfant-Jésus. 1401, 18 ième Rue, Québec GIJ 1Z4
P. Bedard
Affiliation:
Département des sciences neurologiques, et Centre de Recherche en neurobiologie, Hôpital de l'Enfant-Jésus. 1401, 18 ième Rue, Québec GIJ 1Z4
R. Bouchard
Affiliation:
Département des sciences neurologiques, et Centre de Recherche en neurobiologie, Hôpital de l'Enfant-Jésus. 1401, 18 ième Rue, Québec GIJ 1Z4
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Summary:

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We have studied a large family of which seven members suffer from a progressive disease with onset in the first decade. The first symptoms were gait ataxia and clumsiness in all cases, followed by progressive development of severe distal amyotrophy reminiscent of Charcot-Marie-Tooth disease. In four patients a postural tremor which was relieved by pharmacological agents was also evident in the limbs or head.

Cerebellar atrophy was confirmed on CT scan. Motor nerve conduction velocities were in the low normal range, while sensory nerve conduction was markedly decreased. All patients had impaired proprioception and vibration sense. The laboratory investigation revealed a normal CSF protein level and elevated serum bilirubin.

The patients reported in this study apparently suffer from an original recessive form of spinal and olivocerebellar degeneration associated with a neuronal form of Charcot-Marie-Tooth disease.

Type
Quebec Cooperative Study of Friedreich's Ataxia
Information
Canadian Journal of Neurological Sciences , Volume 7 , Issue 4 , November 1980 , pp. 345 - 349
Copyright
Copyright © Canadian Neurological Sciences Federation 1980

References

REFERENCES

Barbeau, A., Breton, G., Lemieux, B. and Butterworth, R.F. (1976). Bilirubin metabolism in Friedreich’s ataxia. Can. J. Neurol. Sci., 3: 365–372.CrossRefGoogle ScholarPubMed
Barbeau, A. (1978). Friedreich’s ataxia 1978 — an overview. Can. J. Neurol. Sci., 5: 161–165.CrossRefGoogle ScholarPubMed
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
Bouchard, J.P., Barbeau, A., Bouchard, R. and Bouchard, R.W. (1978). Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Can. J. Neurol. Sci., 5: 61–70.CrossRefGoogle ScholarPubMed
Bouchard, J.P., Barbeau, A., Bouchard, R. and Bouchard, R.W. (1979). Electromyography and nerve conduction studies in Friedreich’s ataxia and autosomal recessive spastic ataxia of Charlevois-Saguenay (ARSACS). Can. J. Neurol. Sci., 6: 185–190.CrossRefGoogle ScholarPubMed
Bouchard, R.W., Bouchard, J.P., Bouchard, R. and Barbeau, A. (1979). Electroencephalographic findings in Friedreich’s ataxia and autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Can. J. Neurol. Sci., 6: 191–194.CrossRefGoogle ScholarPubMed
Delwaide, P.J. and Schoenen, J. (1976). Non-hypertrophic familial neuropathy associated with intention tremor. J. Neurol. Sci., 27: 59–69.CrossRefGoogle ScholarPubMed
De Recondo, J.Hereditary neurogenic muscular atrophies (1975). In: Handbook of clinical neurology, Winken, P.J. and Bruyn, G.W. editors. North Holland Pubi. Co. Amsterdam, Vol. 21, pp 271–317.Google Scholar
Dionne, J., Wright, G., Barber, H., Bouchard, R. and Bouchard, J.P. (1979). Oculomotor and vestibular findings in autosomal recessive spastic ataxia of Charlevois-Saguenay. Can. J. Neurol. Sci., 6: 177–184.CrossRefGoogle Scholar
Dyck, P.J. (1975). Inherited neuronal degeneration and atrophy affecting peripheral motor, sensory, and autonomic neurons. In: Peripheral Neuropathy, Edited by Dyck, , Thomas, , Lambert, W.B.Saunders and Co. (Phil.) pp 825–867.Google Scholar
Dyck, P.J. and Lambert, E.H. (1968). Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic and electrophysiologic findings in hereditary polyneuropathies. II. Neurologic, genetic and electrophysiologic findings in various neuronal degenerations. Arch. Neurol. 18: 603–625.CrossRefGoogle Scholar
Greenfield, J.G. (1954). The spinocerebellar degenerations. Blackwell Scient. Pubi., Oxford.Google Scholar
Kirkham, T.H., Guiton, D., Katsarkas, A., Kline, L.B. and Andermann, E. (1979). Oculomotor abnormalities in Friedreich’s ataxia. Can. J. Neurol. Sci., 6: 167–172.CrossRefGoogle ScholarPubMed
Langelier, R., Bouchard, J.P. and Bouchard, R. (1979). Computed tomography of posterior fossa in hereditary ataxias. Can. J. Neurol. Sci., 6: 195–198.CrossRefGoogle ScholarPubMed
Larochelle, L., Bedard, P., Poirier, L.J. and Sourkes, T.L. (1971). Correlative neuro-anatomical and neuropharmacological study of tremor and catatonia in the monkey. Neuropharmacol., 10: 273–288.CrossRefGoogle Scholar
Peyronnard, J.M., Bouchard, J.P., Lapointe, L., Lamontagne, A., Lemieux, B. and Barbeau, A. (1976). Nerve conduction studies and electro-myography in Friedreich’s ataxia. Can. J. Neurol. Sci., 3: 313–318.CrossRefGoogle Scholar
Roth, M. (1948). On a possible relationship between hereditary ataxia and peroneal muscle atrophy: with a critical review of the problems of “intermediate forms” in the degenerative disorders of the central nervous system. Brain, 71: 416–433.CrossRefGoogle ScholarPubMed
Roussy, G. and Levy, G. (1926). Sept cas d’une maladie familiale particuliére: troubles de la marche, pieds bots, et aréflexie tendineuse généralisée avec, accessoirement, légère maladresse des mains. Rev. Neurol. 1: 427–450.Google Scholar
Salisachs, P. and Lapresle, J. (1973). Névrite hypertrophique avec atrophie péro-nière associée à une dyskinésie volitionnelle d’attitude. Rev. Neurol. 129: 133–139.Google Scholar
Silver, J.R. (1966). Familial spastic paraplegia with amyotrophy of the hands. J. Neurol. Neurosurg. Psychiat., 29: 135–144.CrossRefGoogle Scholar
Tyrer, J.H. and Sutherland, J.M. (1961). The primary spinc-cerebellar 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: In: Handbook of clinical neurology. Vinken, P.J. and Bruyn, G.W. editors. North Holland Pubi. Co., Amsterdam. Vol. 21, pp 319–364.Google Scholar
Yudell, A., Dyck, P.J. and Lambert, E.H. (1965). A kinship with the Roussy-Levy syndrome: a clinical and electrophysiologic study. Arch. Neurol. 13: 432–440.CrossRefGoogle Scholar