Hostname: page-component-cd9895bd7-8ctnn Total loading time: 0 Render date: 2024-12-26T06:05:31.341Z Has data issue: false hasContentIssue false
  • English
  • Français

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Published online by Cambridge University Press:  18 September 2015

J. P. Bouchard ,
A. Barbeau ,
R. Bouchard  and
R. W. Bouchard
J. P. Bouchard
Affiliation:
l'Hôpital de l'Enfant-Jésus, Quebec City; l'Institut de Cardiologie de Québec; le Centre Hospitalier de l'Université; Laval; l'Institut de Psychométrie et de Méthodes Quantitatives de Québec; and The Clinical Research Institute of Montreal
A. Barbeau*
Affiliation:
l'Hôpital de l'Enfant-Jésus, Quebec City; l'Institut de Cardiologie de Québec; le Centre Hospitalier de l'Université; Laval; l'Institut de Psychométrie et de Méthodes Quantitatives de Québec; and The Clinical Research Institute of Montreal
R. Bouchard
Affiliation:
l'Hôpital de l'Enfant-Jésus, Quebec City; l'Institut de Cardiologie de Québec; le Centre Hospitalier de l'Université; Laval; l'Institut de Psychométrie et de Méthodes Quantitatives de Québec; and The Clinical Research Institute of Montreal
R. W. Bouchard
Affiliation:
l'Hôpital de l'Enfant-Jésus, Quebec City; l'Institut de Cardiologie de Québec; le Centre Hospitalier de l'Université; Laval; l'Institut de Psychométrie et de Méthodes Quantitatives de Québec; and The Clinical Research Institute of Montreal
*
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.

A new syndrome of autosomal recessive spastic ataxia has been isolated in the Charlevoix-Saguenay region of Quebec. This syndrome is remarkably homogeneous and includes: spasticity, dysarthria, distal muscle wasting, foot deformities, truncal ataxia, absence of sensory evoked potentials in the lower limbs, retinal striation reminiscent of early Leber's atrophy and the frequent presence (57%) of a prolapse of the mitral valve. Biochemically, many cases show impaired pyruvate oxidation, others have hyperbilirubinaemia and some have low serum β-lipoproteins and HDL apoproteins. These features are similar to those found in trypical Friedreich's ataxia.

Type
Quebec Cooperative Study of Friedreich's Ataxia
Information
Canadian Journal of Neurological Sciences , Volume 5 , Issue 1 , February 1978 , pp. 61 - 69
Copyright
Copyright © Canadian Neurological Sciences Federation 1978

References

REFERENCES

Andermann, E., Andermann, F., Carpenter, S., Karpati, G., Eisen, A., Melancon, D. and Bergeron, J. (1976). Familial agenesis of the corpus callosum with sensorimotor neuropathy: a new autosomal recessive syndrome originating in Charlevoix county (abstract). Can. J. Neurol. Sci., 3, 155.Google Scholar
Badiu, G. and Cherciulescu, F. (1969). A biochemical test for differential diagnosis between acanthocytosis and spino-cerebellar degenerations. Europ. Neurol., 2, 315–317.CrossRefGoogle Scholar
Barbeau, A., Lesiege, M., Breton, G., Coallier, R. and Bouchard, J.P. (1976a). Friedreich’s ataxia: Preliminary results of some genealogical research. Can. J. Neurol. Sci., 3, 303–306.CrossRefGoogle ScholarPubMed
Barbeau, A., Breton, G., Lemieux, B. and Butterworth, R.F. (1976b). Bilirubin metabolism in Friedreich’s ataxia — Preliminary investigation. Can. J. Neurol. Sci., 3, 365–372.CrossRefGoogle ScholarPubMed
Barbeau, A., Butterworth, R.F., Ngo, T., Breton, G., Melancon, S., Shapcott, D., Geoffroy, G. and Lemieux, B. (1976c). Pyruvate metabolism in Friedreich’s ataxia. Can. J. Neurol. Sci., 3, 379–388.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
Bergstedt, M., Johansson, S. and Muller, R. (1962). Hereditary spastic ataxia with central retinal degeneration and vestibular impairment. Neurol., 12, 124–132.CrossRefGoogle ScholarPubMed
Bregeat, P. (1966). L’atrophie optique dans les hérédo-dégénérescences nerveuses systématisées. J. Gent. Hum., 15, 263–283.Google Scholar
Butterworth, R.F., Shapcott, D., Melancon, S., Breton, G., Geoffroy, G., Lemeiux, B. and Barbeau, A. (1976). Clinical laboratory findings in Friedreich’s ataxia. Can. J. Neurol. Sci., 3, 355–359.CrossRefGoogle ScholarPubMed
Cross, H.E. and MckKuslck, V.A. (1967a). The Troyer syndrome — a recessive form of spastic paraplegia with distal muscle wasting. Arch. Neurol., 16, 473–485.CrossRefGoogle ScholarPubMed
Cross, H.E. and McKuslck, V.A. (1967b). A survey of neurological disorders in a genetic isolate. Neurol., 17, 743–751.CrossRefGoogle Scholar
Dyck, P.J. and Lambert, E.H. (1968). Lower motor and primary sensory neuron diseases with peroneal muscular atrophy (II). Arch. Neurol., 18, 619–625.CrossRefGoogle ScholarPubMed
Dyck, P.J., Lambert, E.H. and Nichols, P.C. (1971). Quantitative measurement of sensation related to compound action potential and number and sizes of myelinated and unmyelinated fibers of sural nerve in health, Friedreich’s ataxia, hereditary sensory neuropathy, and tabes dorsalis. In: Handbook of Electioence-phalogr. Clin. Neurophysiol. Vol. 9, Elsevier, Amsterdam, pp. 83–118.Google Scholar
Ferguson, F.R. and Crltchley, M. (1929). A clinical study of an heredofamilial disease resembling disseminated sclerosis. Brain, 52, 203225.CrossRefGoogle Scholar
Garland, H.G. and Astley, C.E. (1950). Hereditary spastic paraplegia with amyotrophy and pes cavus. J. Neurol. Neurosurg. Psychiat., 13, 130–133.CrossRefGoogle ScholarPubMed
Gattiker, H.F., Davignon, A., Bozio, A., Battle-Diaz, J.. Geoffroy, G., Lemieux, B. and Bar-Beau, A. (1976). Echocardiographic findings in Friedreich’s ataxia. Can. J . Neurol. Sci., 3, 329–332.CrossRefGoogle ScholarPubMed
Geoffroy, G., Barbeau, A., Breton, G., Lemieux, B., Aube, M., Leger, C. and Bouchard, J.P. (1976). Clinical description and roentgenologic evaluation of patients with Friedreich’s ataxia. Can. J. Neurol. Sci. 3, 279–286.CrossRefGoogle ScholarPubMed
Grunbaum, B.W. (1963). Evaluation of a cellulose-acetate electrophoresis system for serum protein fractionation. Microch, Journ., 7, 41–53.CrossRefGoogle Scholar
Hodge, G. (1897). Three cases of Friedreich’s Disease all presenting marked increase of the knee jerk. Brit. Med. J., 1, 1405–1406.CrossRefGoogle ScholarPubMed
Hogan, G.R. and Bauman, M.L. (1977). Familial spastic ataxia: Occurrence in childhood. Neurol., 27, 520–526.CrossRefGoogle ScholarPubMed
Holmes, G. (1905). Family spastic paralysis associated with amyotrophy. Rev. Neurol. Psychiat., 3, 257–263.Google Scholar
Johnston, A.W. and McKuslck, V. (1962). A sex-linked recessive form of spastic paraplegia. Amer. J. Hum. Genet., 14, 83–94.Google ScholarPubMed
Kaplan, A. and Savary, H. (1965). Application of an improved microelectrophoresis technique and Immunoelectrophoresis of the serum proteins on cellulose acetate. Clin. Chem., 11, 937–942.CrossRefGoogle Scholar
Kawai, T. (1973). Clinical aspects of the plasma proteins. J.B. Lippincott Company, Philadelphia, pp. 125–130.Google Scholar
Laberge, C. (1969). Hereditary tyrosinemia in a French Canadian isolate. Amer. J. Hum. Genet., 21, 36–45.Google Scholar
Landau, W.M. and Gitt, J.J. (1951). Hereditary spastic paraplegia and hereditary ataxia. Arch. Neurol. Psychiat.. 66. 346–354.CrossRefGoogle ScholarPubMed
Maas, O. (1904). Lieber ein selten be-schriebenes familiares Nervenleiden. Berlin Klin. Wschr., 41, 832–833.Google Scholar
Malloy, H. and Evelyn, K. (1937). Determination of bilirubin with the photoelectric colorimeter. J. Biol. Chem.. 119, 481.CrossRefGoogle Scholar
Netsky, M.G. (1968). Degeneration of the cerebellum and its pathways. In: Pathology of the nervous system. Minckler, Editor, McGraw-Hill, New York, pp. 1163–1185.Google Scholar
Nikoskelainen, E.. Sogg, R.L.. Rosenthal, A.R.. Friberg, T.R. and Dorfman, L.J. (1977). The early phase in Leber hereditary optic atrophy. Arch. Ophtalmol., 95. 969–978.CrossRefGoogle ScholarPubMed
Ormerod, J.A. (1904). An unusual form of family paralysis. Lancet, 1 17–18.CrossRefGoogle Scholar
Peyronnard, J.M.. Bouchard, J.P., Lapointe, L., Lamontagne, A.. Lemieux, B. and Barbeau, A. (1976). Nerve conduction studies and electromyography in Friedreich’s ataxia. Can. J. Neurol. Sci., 3. 313–317.CrossRefGoogle ScholarPubMed
Schut, J. (1950). Hereditary ataxia : clinical study through six generations. Arch. Neurol. Psychiat., 63. 535–568.CrossRefGoogle Scholar
Seellgmüller, A. (1876). Einige sel-tenere formen von affectomen desRiicken-marks: 1. Sklerose der Seintenstrange des Rückenmarks bei vier Kindern derselben Familie. Deutsch Med. Wschr.. 2. 185–186.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 spino-cerebellar atrophies and their associated defects, with a study of the foot deformity. Brain, 84, 289–300.CrossRefGoogle ScholarPubMed
Wadia, H. and Swami, R.K. (1971). A new form of heredo-familial spinocerebellar degeneration with slow eye movements. Brain, 94, 359–374.CrossRefGoogle ScholarPubMed
Zee, D.S., Yee, R.D., Cogan, D.G., Robinson, D.A. and Engel, W.K. (1976). Ocular motor abnormalities in hereditary cerebellar ataxia. Brain, 99. 207–234.CrossRefGoogle ScholarPubMed