| Full text | |
| Author(s): |
Martins Junior, Carlos Roberto
[1]
;
de Borba, Fabricio Castro
[1]
;
Muro Martinez, Alberto Rolim
[1]
;
Ribeiro de Rezende, Thiago Junqueira
[1]
;
Cendes, Iscia Lopes
[2]
;
Pedroso, Jose Luiz
[3]
;
Povoas Barsottini, Orlando Graziani
[3]
;
Franca Junior, Marcondes Cavalcante
[1]
Total Authors: 8
|
| Affiliation: | [1] Univ Estadual Campinas, Fac Ciencias Med, Dept Neurol, Campinas, SP - Brazil
[2] Univ Estadual Campinas, Fac Ciencias Med, Dept Med, Campinas, SP - Brazil
[3] Univ Fed Sao Paulo, Unidade Ataxia, Dept Neurol, Sao Paulo, SP - Brazil
Total Affiliations: 3
|
| Document type: | Review article |
| Source: | Arquivos de Neuro-Psiquiatria; v. 76, n. 8, p. 555-562, AUG 2018. |
| Web of Science Citations: | 2 |
| Abstract | |
Spinocerebellar ataxias (SCA) are a clinically and genetically heterogeneous group of monogenic diseases that share ataxia and autosomal dominant inheritance as the core features. An important proportion of SCAs are caused by CAG trinucleotide repeat expansions in the coding region of different genes. In addition to genetic heterogeneity, clinical features transcend motor symptoms, including cognitive, electrophysiological and imaging aspects. Despite all the progress in the past 25 years, the mechanisms that determine how neuronal death is mediated by these unstable expansions are still unclear. The aim of this article is to review, from an historical point of view, the first CAG-related ataxia to be genetically described: SCA 1. (AU) | |
| FAPESP's process: | 13/01766-7 - Sensory neuronopathies: investigation of new diagnostic methods, mechanisms of the disease and therapeutic strategies |
| Grantee: | Marcondes Cavalcante Franca Junior |
| Support type: | Research Grants - Young Investigators Grants |
| FAPESP's process: | 14/19786-7 - Automated quantification of transverse relaxation time: identification of iron deposits in the brain |
| Grantee: | Thiago Junqueira Ribeiro de Rezende |
| Support type: | Scholarships in Brazil - Doctorate |