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Glutamate Dehydrogenase Deficiency in Machado-Joseph Disease

Published online by Cambridge University Press:  18 September 2015

A. Gonçalves ,
C. Oliveira ,
M.A. Ferro ,
M. Dinis  and
L. Cunha
A. Gonçalves*
Affiliation:
Clinica Neurológica dos Hospitals da Universidade de Coimbra, Coimbra, Portugal
C. Oliveira
Affiliation:
Clinica Neurológica dos Hospitals da Universidade de Coimbra, Coimbra, Portugal
M.A. Ferro
Affiliation:
Clinica Neurológica dos Hospitals da Universidade de Coimbra, Coimbra, Portugal
M. Dinis
Affiliation:
Clinica Neurológica dos Hospitals da Universidade de Coimbra, Coimbra, Portugal
L. Cunha
Affiliation:
Clinica Neurológica dos Hospitals da Universidade de Coimbra, Coimbra, Portugal
*
Clinica Neurológica, Hospitais da Universidade de Coimbra, Av. Bissaya Barreto, 3049 Coimbra Codex, Portugal
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Abstract:

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We studied the activity of glutamate dehydrogenase (GDH) in leukocytes from 23 patients with domi-nantly inherited ataxia. All the patients were assessed with a rating scale for ataxias and met the clinical criteria for the diagnosis of Machado-Joseph disease. The mean age of onset of symptoms was 37.8, SD 13.4 years and the duration of the disease was 7.4, SD 4.9. Leukocyte GDH activity was significantly decreased (p < 0.001) when compared to 20 normal controls. These data extend previous reports indicating that a GDH deficiency is present in peripheral tissues from some patients with spinocerebellar degenerations. Furthermore, this study suggests that a genetic deficiency of GDH may underlie some forms of dominant ataxias; this deficiency may be marked in patients with Machado-Joseph disease and is not specific for any type of multiple system atrophy.

Type
Research Article
Information
Canadian Journal of Neurological Sciences , Volume 20 , Issue 2 , May 1993 , pp. 147 - 150
Copyright
Copyright © Canadian Neurological Sciences Federation 1993

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