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Dominantly Inherited Ataxias in Portugal

Published online by Cambridge University Press:  18 September 2015

L. Cunha ,
A. Gonçalves ,
M. Dinis ,
C. Oliveira ,
M. Ferro ,
A. Vicente ,
M. Roy  and
A. Barbeau
L. Cunha*
Affiliation:
Clinica Neurolégica - HUC, Coimbra, Portugal
A. Gonçalves
Affiliation:
Clinica Neurolégica - HUC, Coimbra, Portugal
M. Dinis
Affiliation:
Clinica Neurolégica - HUC, Coimbra, Portugal
C. Oliveira
Affiliation:
Clinica Neurolégica - HUC, Coimbra, Portugal
M. Ferro
Affiliation:
Clinica Neurolégica - HUC, Coimbra, Portugal
A. Vicente
Affiliation:
Clinica Neurolégica - HUC, Coimbra, Portugal
M. Roy
Affiliation:
The Clinical Research Institute of Montreal
A. Barbeau
Affiliation:
The Clinical Research Institute of Montreal
*
Hospitais da Universidade Coimbra, Clinica Neurolégica, 3000 Coimbra, Portugal
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Abstract:

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We analysed the clinical features of 82 patients with dominantly inherited ataxia in a cohort survey. All patients fulfilled the diagnostic criteria for Machado-Joseph disease. The mean age of onset of symptoms was 39.8 (± 12.5) years and the duration of the disease was 9.2 (± 6.7) years. Ataxia, peripheral neuropathy, and fasciculation scores correlated with age of onset and duration of disease. Upper motor neuron scores failed to correlate with age of onset. In a follow-up study we analysed the clinical data of 46 patients two years after the first examination. A paired ttest was used to compare differences between observations. The results are in agreement with those of the cross-section in time, suggesting a deterioration of the symptoms with the evolution of the disease. We conclude that dynamic definition of the disease according to age of onset and duration of symptoms is preferable to subdivision into classical types.

Type
Original Articles
Information
Canadian Journal of Neurological Sciences , Volume 15 , Issue 4 , November 1988 , pp. 397 - 401
Copyright
Copyright © Canadian Neurological Sciences Federation 1988

References

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