Machado–Joseph disease in South Brazil: clinical and molecular characterization of kindreds.
In: Acta Neurologica Scandinavica, Jg. 104 (2001-10-01), Heft 4, S. 224-231
Online
academicJournal
Zugriff:
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. [ABSTRACT FROM AUTHOR]
Titel: |
Machado–Joseph disease in South Brazil: clinical and molecular characterization of kindreds.
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Autor/in / Beteiligte Person: | Jardim, L. B. ; Pereira, M. L. ; Silveira, I. ; Ferro, A. ; Sequeiros, J. ; Giugliani, R. |
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Zeitschrift: | Acta Neurologica Scandinavica, Jg. 104 (2001-10-01), Heft 4, S. 224-231 |
Veröffentlichung: | 2001 |
Medientyp: | academicJournal |
ISSN: | 0001-6314 (print) |
DOI: | 10.1034/j.1600-0404.2001.00020.x |
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