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Friedreich's Ataxia in Northern Italy: I. Clinical, Neurophysiological and In Vivo Biochemical Studies

Published online by Cambridge University Press:  18 September 2015

A. D’Angelo ,
S. Di Donato ,
G. Negri ,
F. Beulche ,
G. Uziel  and
R. Boeri
A. D’Angelo
Affiliation:
Instituto Neurologico “C. Besta”, Milano, Italy
S. Di Donato
Affiliation:
Instituto Neurologico “C. Besta”, Milano, Italy
G. Negri
Affiliation:
Instituto Neurologico “C. Besta”, Milano, Italy
F. Beulche
Affiliation:
Instituto Neurologico “C. Besta”, Milano, Italy
G. Uziel
Affiliation:
Instituto Neurologico “C. Besta”, Milano, Italy
R. Boeri
Affiliation:
Instituto Neurologico “C. Besta”, Milano, Italy
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Summary:

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Eighteen patients with the presumptive diagnosis of Friedreich's ataxia were studied. Clinical, neurophysiological and biochemical data were concordant in 14 patients and led to the diagnosis of typical Friedreich's ataxia in this group of patients. The remaining 4 patients differed from the typical patients in several respects, but mainly in the cardiological findings. It is concluded that no single clinical or laboratory finding is typical of F.A. Multidisciplinary approaches are essential to the diagnosis of Friedreich's ataxia.

Type
Quebec Cooperative Study of Friedreich's Ataxia
Information
Canadian Journal of Neurological Sciences , Volume 7 , Issue 4 , November 1980 , pp. 359 - 365
Copyright
Copyright © Canadian Neurological Sciences Federation 1980

References

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