期刊
NEUROGENETICS
卷 16, 期 3, 页码 151-160出版社
SPRINGER
DOI: 10.1007/s10048-015-0439-z
关键词
Friedreich ataxia; FRDA; Autosomal recessive ataxia; Frataxin gene; FXN; Coenzyme Q10; Idebenone; Deferiprone; Erythropoietin
资金
- Fundacao de Amparo a Pesquisa de Sao Paulo, Sao Paulo, Brazil [FAPESP 2012/17494-3]
- Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP) [12/17494-3] Funding Source: FAPESP
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.
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