Hostname: page-component-586b7cd67f-dlnhk Total loading time: 0 Render date: 2024-11-24T21:56:41.742Z Has data issue: false hasContentIssue false
  • English
  • Français

Friedreich's Ataxia in the South of Italy : A Clinical and Biochemical Survey of 23 Patients

Published online by Cambridge University Press:  18 September 2015

G. Campanella ,
A. Filla ,
F. De Falco ,
D. Mansi ,
A. Durivage  and
A. Barbeau
G. Campanella
Affiliation:
Department of Neurology, Second School of Medicine, University of Naples (Italy) and Department of Neurobiology, Clinical Research Institute of Montreal
A. Filla
Affiliation:
Department of Neurology, Second School of Medicine, University of Naples (Italy) and Department of Neurobiology, Clinical Research Institute of Montreal
F. De Falco
Affiliation:
Department of Neurology, Second School of Medicine, University of Naples (Italy) and Department of Neurobiology, Clinical Research Institute of Montreal
D. Mansi
Affiliation:
Department of Neurology, Second School of Medicine, University of Naples (Italy) and Department of Neurobiology, Clinical Research Institute of Montreal
A. Durivage
Affiliation:
Department of Neurology, Second School of Medicine, University of Naples (Italy) and Department of Neurobiology, Clinical Research Institute of Montreal
A. Barbeau*
Affiliation:
Department of Neurology, Second School of Medicine, University of Naples (Italy) and Department of Neurobiology, 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.

We report a clinical and biochemical survey of 23 patients with Friedreich's ataxia from southern Italy. They were studied clinically and by means of a clinical rating scale devised by us (Inherited Ataxias Clinical Rating Scale). Laboratory tests, based on the Quebec Cooperative Study, were also performed on our patients. No major clinical or biochemical differences were found between Italian and Canadian patients. Investigation of CSF monoamine metabolites showed that HVA decreased after probenecid and metoclopramide loading

Type
Quebec Cooperative Study of Friedreich's Ataxia
Information
Canadian Journal of Neurological Sciences , Volume 7 , Issue 4 , November 1980 , pp. 351 - 357
Copyright
Copyright © Canadian Neurological Sciences Federation 1980

References

REFERENCES

Ajuriaguerra, J.De. Rego, A. and Tissot, R. (1963). Le réflexe oral et quelques activités orales dans les syndromes démentiels du grand âge, Encéphale, 52, 189–219.Google Scholar
Andermann, E., Remillard, G.M., Goyer, C, Blitzer, L., Andermann, F. and Barbeau, A. (1976). Genetic and family studies in Friedreich’s ataxia. Can. J. Neurol. Sci., 3, 287–301.CrossRefGoogle ScholarPubMed
Barbeau, A. (1976a). Friedreich’s ataxia 1976. An overview. Can. J. Neurol. Sci., 3, 389–397.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
Buchtal, F. and Rosefalck, A. (1966). Evoked action potentials and conduction velocity in human sensory nerves. Brain Res., 3, 1–122.Google Scholar
Campanella, G., Carrieri, P. and Buscaino, G.A. (1980). HVA e 5-HIAA liquorali nelle malattie extrapiramidali e cerebellari. In press.Google Scholar
Canter, G.J., De LA TORRE, R. and Mier, M. (1961). A method for evaluating disability in patients with Parkinson’s disease. J. Nerv. Ment. Dis., 133, 143–147.CrossRefGoogle ScholarPubMed
Carrieri, P., Mandarini, A., Orefice, G., Campanella, G. and Buscaino, G.A. (1976). Contributo allo studio del metabolismo centrale della dopamina e della serotonina. Dosaggio dei livelli liquorali di HVA e 5-HIAA col test al probenecid (modificato). Acta Neurol., 31, 558–564.Google Scholar
Caruso, G., Santoro, L., Perretti, A., Serlenga, L., Ragno, M., Crisci, C, Barbieri, F. and Filla, A. (1980). Friedreich’s ataxia: Electrophy-siological and histological aspects. Communication at the Swiss-Italian EMG Meeting, Capri, May 30, 1980.Google Scholar
De Falco, F.A., Mansi, D., Ventola, F., Filla, A. and Campanella, G. (1979). Proposta di una scheda di rilevamento clinico delle eredo-atassie spino-cerebellari. Acta Neurol., Quaderno 39, 103–109.Google Scholar
Demeurisse, G., Demol, O. and Ganty, C. (1979). Semiological value of the palmomental reflex in vascular hemiplegia. Eur. Neurol., 18, 66–72.CrossRefGoogle ScholarPubMed
Filla, A., Carlomagno, S., Di Iorio, G., Federico, A., Guadagnino, M. and Campanella, G. (1980a). Studio epidemiologico delle eredo-atassie spino-cerebellari in Campania. Proceedings of the Sixth Meeting of the Italian League to Combat Parkinson’s Disease and Allied Disorders, Naples, October 26–27, 1979. In press.Google Scholar
Filla, A., Postiglione, A., Rubba, P., Patti, L., De MICHELE, G., Palma, V., Brescia Morra, V. and Campanella, G. (1980b). Plasma lipoprotein concentration and erythrocyte membrane lipids in patients with Friedreich’s ataxia. In press in Acta Neurol.Google Scholar
Gattiker, H.F., Davignon, A., Bozio, A., Batlle-Diaz, J., Geoffroy, G., Lemieux, B. and Barbeau, A. (1976).Echocardiographic findings in Friedreich’s ataxia. Can. J. Neurol. Sci., 3, 329–336.CrossRefGoogle ScholarPubMed
Geoffroy, G., Barbeau, A., Breton, G., Lemieux, G., Aube, M. and Leger, C. (1976). Clinical description and roentgenologic evaluation of patients with Friedreich’s ataxia. Can. J. Neurol. Sci., 3, 279–286.CrossRefGoogle ScholarPubMed
Gudmundsson, K.R. (1969). Prevalence and occurrence of some rare neurological diseases in Iceland. Acta Nerol. Scand., 45, 114–118.CrossRefGoogle ScholarPubMed
Huang, Y.S., Nestruck, A.C., Barbeau, A., Bouchard, J.P. and Davignon, J. (1978). Plasma lipids and lipoproteins in Friedreich’s ataxia and familial spastic ataxia. Evidence for an abnormal composition of high density lipoproteins. Can. J. Neurol. Sci., 5. 149–156.CrossRefGoogle ScholarPubMed
Johansson, B., and Roos, B.-E. (1974). 5-Hydroxyindoleacetic acid and homovanillic acid in cerebrospinal fluid of patients with neurological diseases. Europ. Neurol., 2, 37–45.CrossRefGoogle Scholar
Korf, J., Van Praag, H.M. and Sebens, J.B. (1971). Effect of intravenously administered probenecid in humans on the levels of 5-hydroxyindoleacetic acid, homovanillic acid and 3-methoxy-4-hydroxyphenylglycol in cerebrospinal fluid. Biochem. Pharmacol., 20, 659–668.CrossRefGoogle Scholar
Malo, S., Latour, Y., Cote, M., Geoffroy, G., Lemieux, B. and Barbeau, A. (1976). Electrocardiographic and vecto-cardiographic findings in Friedreich’s ataxia. Can. J. Neurol. Sci., 3, 323–328.CrossRefGoogle ScholarPubMed
Pearce, J. (1974). The extrapyramidal disorders of Alzheimer’s disease. Europ. Neurol., 12, 94–103.CrossRefGoogle ScholarPubMed
QUEBEC COOPERATIVE STUDYON FRIEDREICH’S ATAXIA. PHASE ONE (1976). Can. J. Neurol. Sci., 3, 269–397.CrossRefGoogle Scholar
QUEBEC COOPERATIVE STUDY OF FRIEDREICH’S ATAXIA. PHASE TWO, PART ONE (1978). Can. J. Neurol. Sci., 5, 53–165.CrossRefGoogle Scholar
QUEBEC COOPERATIVE STUDY OF FRIEDREICH'S ATAXIA. PHASE TWO, PART TWO (1979). Can. J. Neurol. Sci., 6, 145–319.CrossRefGoogle Scholar
Remillard, G., Andermann, F., Blitzer, L. and Andermann, E. (1976). Electroencephalographic findings in Friedreich’s ataxia. Can. J. Neurol. Sci., 3, 309–312.CrossRefGoogle ScholarPubMed
Shapcott, D., Melançon, S., Butter-Worth, R.F., Khoury, K., Collu, R., Breton, G., Geoffroy, G., Lemieux, B. and Barbeau, A. (1976). Glucose and insulin metabolism in Friedreich’s ataxia. Can. J. Neurol. Sci., 3, 361–364.CrossRefGoogle ScholarPubMed
Skre, H. (1975). Friedreich’s ataxia in Western Norway. Clin. Genet., 7, 287–298.CrossRefGoogle ScholarPubMed