| Full text | |
| Author(s): |
Abrahao, Agessandro
[1, 2, 3]
;
Pedroso, Jose Luiz
[1, 2, 3]
;
Braga-Neto, Pedro
[4]
;
Bor-Seng-Shu, Edson
[5]
;
Aguiar, Patricia de Carvalho
[1, 6]
;
Povoas Barsottini, Orlando Graziani
[1, 2, 3]
Total Authors: 6
|
| Affiliation: | [1] Hosp Israelita Albert Einstein, Sao Paulo - Brazil
[2] Univ Fed Sao Paulo, Div Gen Neurol, BR-04039002 Sao Paulo, SP - Brazil
[3] Univ Fed Sao Paulo, Dept Neurol & Neurosurg, Ataxia Unit, BR-04039002 Sao Paulo, SP - Brazil
[4] Univ Estadual Ceara, Ctr Hlth Sci, Fortaleza, Ceara - Brazil
[5] Univ Sao Paulo, Sch Med, Div Neurol Surg, Sao Paulo - Brazil
[6] Univ Fed Sao Paulo, UNIFESP, Div Movement Disorders, BR-04039002 Sao Paulo, SP - Brazil
Total Affiliations: 6
|
| Document type: | Review article |
| Source: | NEUROGENETICS; v. 16, n. 3, p. 151-160, JUL 2015. |
| Web of Science Citations: | 19 |
| Abstract | |
Friedreich ataxia (FRDA) is the most common autosomal recessive ataxia worldwide. This review highlights the main clinical features, pathophysiological mechanisms, and therapeutic approaches for FRDA patients. The disease is characterized by a combination of neurological involvement (ataxia and neuropathy), cardiomyopathy, skeletal abnormalities, and glucose metabolism disturbances. FRDA is caused by expanded guanine-adenine-adenine (GAA) triplet repeats in the first intron of the frataxin gene (FXN), resulting in reduction of messenger RNA and protein levels of frataxin in different tissues. The molecular and metabolic disturbances, including iron accumulation, lead to pathological changes characterized by spinal cord and dorsal root ganglia atrophy, dentate nucleus atrophy without global cerebellar volume reduction, and hypertrophic cardiomyopathy. DNA analysis is the hallmark for the diagnosis of FRDA. There is no specific treatment to stop the disease progression in FRDA patients. However, a number of drugs are under investigation. Therapeutic approaches intend to improve mitochondrial functioning and to increase FXN expression. (AU) | |
| FAPESP's process: | 12/17494-3 - Gene expression in peripheral blood cells from Friedreich ataxia patients |
| Grantee: | Orlando Graziani Povoas Barsottini |
| Support Opportunities: | Regular Research Grants |