Characterization of a new mutation with loss of function in the KMT2D gene in mice
Exchange between Brazil and Chile in medical genetics and speech pathology
Quality of life of families who have children with Fragile-X syndrome in Brazil
| Full text | |
| Author(s): |
Capelli, Leonardo Pires
[1]
;
Rodrigues Goncalves, Marcia Rubia
[2]
;
Leite, Claudia C.
[3]
;
Barbosa, Egberto R.
[2]
;
Nitrini, Ricardo
[2]
;
Vianna-Morgante, Angela M.
[1]
Total Authors: 6
|
| Affiliation: | [1] Univ Sao Paulo, Inst Biosci, Dept Genet & Evolutionary Biol, Sao Paulo - Brazil
[2] Univ Sao Paulo, Sch Med, Dept Neurol, Sao Paulo - Brazil
[3] Univ Sao Paulo, Sch Med, Dept Radiol, Sao Paulo - Brazil
Total Affiliations: 3
|
| Document type: | Journal article |
| Source: | Arquivos de Neuro-Psiquiatria; v. 68, n. 5, p. 791-798, OCT 2010. |
| Web of Science Citations: | 8 |
| Abstract | |
FXTAS (Fragile X-associated tremor and ataxia syndrome) is a late- onset neurodegenerative disorder affecting mainly men, over 50 years of age, who are carriers of the FMR1 gene premutation. The full mutation of this gene causes the fragile X syndrome (FXS), the most common cause of inherited mental retardation. Individuals affected by FXTAS generally present intention tremor and gait ataxia that might be associated to specific radiological and/or neuropathological signs. Other features commonly observed are parkinsonism, cognitive decline, peripheral neuropathy and autonomic dysfunction. Nearly a decade after its clinical characterization, FXTAS is poorly recognized in Brazil. Here we present a review of the current knowledge on the clinical, genetic and diagnostic aspects of the disease. (AU) | |
| FAPESP's process: | 98/14254-2 - The Human Genome Research Center |
| Grantee: | Mayana Zatz |
| Support Opportunities: | Research Grants - Research, Innovation and Dissemination Centers - RIDC |