Machado-Joseph disease in South Brazil: clinical and molecular characterization of kindreds.
OBJECTIVE
To examine the clinical, genetic, and molecular characteristics of a group of MJD patients recently identified in the southernmost state of Brazil, and compare these data with studies from the literature.


METHODS
Some 62 individuals from 35 families, mostly of Azorean ancestry, had their clinical data and their MJD1 expanded regions examined.


RESULTS
The present patients had an earlier age of onset, on average, than Portuguese-Azorean cases. Their survival, proportion of types, average anticipation, proportion of affected versus non-affected siblings, neurological signs and molecular findings are similar to those observed in patients previously described. Type 1 patients with male transmission showed worse anticipations than type 1 patients with female transmission. Patients with type 1 had also larger CAG expansions than other patients.


CONCLUSIONS
The Brazilian origin seemed to affect the age of onset. We also noted that there were no differences other than the neurological between types 2 or 3, since both are similar in age of onset, disease duration and length of CAG repeats. We addressed the question of maintaining or not subtypes 2 and 3 separated, among patients with genetic and geographical backgrounds like the presented patients here.
Jardim
L B
LB
Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Department of Internal Medicine, Universidade Federal do Rio Grande do Sul, Brazil. laurajardim@terra.com.br
Pereira
M L
ML
Silveira
I
I
Ferro
A
A
Sequeiros
J
J
Giugliani
R
R
D000293:Adolescent; D000328:Adult; D001938:Brazil / Q000453:epidemiology; D002648:Child; D005260:Female; D005843:Geography; D006801:Humans; D015994:Incidence; D017827:Machado-Joseph Disease / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011174:Portugal / Q000208:ethnology; D011379:Prognosis; D018911:Trinucleotide Repeats