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Published on: January 22, 2017
Current concepts in the treatment of hereditary ataxias
Pedro Braga Neto1, José Luiz Pedroso2, Sheng-Han Kuo3
1Center of Health Sciences, Universidade Estadual do Ceará, Fortaleza, CE, Brazil.
Insights
Hereditary ataxias (HA) are neurodegenerative diseases with no cure, requiring symptomatic management. This review covers treatments for various HA types, focusing on symptom relief and future therapeutic strategies.
Area of Science:
- Neuroscience
- Genetics
- Neurology
Background:
- Hereditary ataxias (HA) are a diverse group of neurodegenerative disorders.
- Characterized by progressive ataxia and multi-systemic symptoms.
- Currently, no definitive cure exists, with management focused on symptom relief.
Purpose of the Study:
- To review symptomatic treatments for major types of hereditary ataxias.
- To explore mechanism-based approaches and rehabilitation therapies.
- To discuss future clinical trials, genetic counseling, and preimplantation genetic diagnosis.
Main Methods:
- Literature review focusing on symptomatic management of hereditary ataxias.
- Analysis of treatment strategies for autosomal recessive, autosomal dominant, X-linked, and mitochondrial ataxias.
- Synthesis of information on rehabilitation, disease-modifying therapies, and genetic diagnostics.
Main Results:
- Detailed management strategies for diverse clinical symptoms associated with HA.
- Overview of current and emerging therapeutic approaches.
- Discussion on the role of genetic counseling and diagnostics in managing HA.
Conclusions:
- Symptomatic treatment and supportive care are crucial for managing hereditary ataxias.
- A multi-faceted approach including rehabilitation and genetic insights is essential.
- Ongoing research and clinical trials offer hope for future disease-modifying therapies.
Abstract:
Hereditary ataxias (HA) represents an extensive group of clinically and genetically heterogeneous neurodegenerative diseases, characterized by progressive ataxia combined with extra-cerebellar and multi-systemic involvements, including peripheral neuropathy, pyramidal signs, movement disorders, seizures, and cognitive dysfunction. There is no effective treatment for HA, and management remains supportive and symptomatic. In this review, we will focus on the symptomatic treatment of the main autosomal recessive ataxias, autosomal dominant ataxias, X-linked cerebellar ataxias and mitochondrial ataxias. We describe management for different clinical symptoms, mechanism-based approaches, rehabilitation therapy, disease modifying therapy, future clinical trials and perspectives, genetic counseling and preimplantation genetic diagnosis.
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