Inborn Errors of Metabolism with Ataxia: Current and Future Treatment Options
A number of hereditary ataxias are caused by inborn errors of metabolism (IEM), most of which are highly heterogeneous in their clinical presentation. Prompt diagnosis is important because disease-specific therapies may be available. In this review, we offer a comprehensive overview of metabolic ata...
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| Format: | Article |
| Language: | English |
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MDPI AG
2023-09-01
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| Series: | Cells |
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| Online Access: | https://www.mdpi.com/2073-4409/12/18/2314 |
| _version_ | 1797580798941986816 |
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| author | Tatiana Bremova-Ertl Jan Hofmann Janine Stucki Anja Vossenkaul Matthias Gautschi |
| author_facet | Tatiana Bremova-Ertl Jan Hofmann Janine Stucki Anja Vossenkaul Matthias Gautschi |
| author_sort | Tatiana Bremova-Ertl |
| collection | DOAJ |
| description | A number of hereditary ataxias are caused by inborn errors of metabolism (IEM), most of which are highly heterogeneous in their clinical presentation. Prompt diagnosis is important because disease-specific therapies may be available. In this review, we offer a comprehensive overview of metabolic ataxias summarized by disease, highlighting novel clinical trials and emerging therapies with a particular emphasis on first-in-human gene therapies. We present disease-specific treatments if they exist and review the current evidence for symptomatic treatments of these highly heterogeneous diseases (where cerebellar ataxia is part of their phenotype) that aim to improve the disease burden and enhance quality of life. In general, a multimodal and holistic approach to the treatment of cerebellar ataxia, irrespective of etiology, is necessary to offer the best medical care. Physical therapy and speech and occupational therapy are obligatory. Genetic counseling is essential for making informed decisions about family planning. |
| first_indexed | 2024-03-10T22:56:08Z |
| format | Article |
| id | doaj.art-3f9a4295f9d444cfbddf8d2bd1a9d8f7 |
| institution | Directory Open Access Journal |
| issn | 2073-4409 |
| language | English |
| last_indexed | 2024-03-10T22:56:08Z |
| publishDate | 2023-09-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Cells |
| spelling | doaj.art-3f9a4295f9d444cfbddf8d2bd1a9d8f72023-11-19T10:00:17ZengMDPI AGCells2073-44092023-09-011218231410.3390/cells12182314Inborn Errors of Metabolism with Ataxia: Current and Future Treatment OptionsTatiana Bremova-Ertl0Jan Hofmann1Janine Stucki2Anja Vossenkaul3Matthias Gautschi4Department of Neurology, University Hospital Bern (Inselspital) and University of Bern, 3010 Bern, SwitzerlandDepartment of Neurology, University Hospital Bern (Inselspital) and University of Bern, 3010 Bern, SwitzerlandDepartment of Neurology, University Hospital Bern (Inselspital) and University of Bern, 3010 Bern, SwitzerlandDivision of Pediatric Endocrinology, Diabetes and Metabolism, Department of Paediatrics, Inselspital, Bern University Hospital, University of Bern, 3010 Bern, SwitzerlandDivision of Pediatric Endocrinology, Diabetes and Metabolism, Department of Paediatrics, Inselspital, Bern University Hospital, University of Bern, 3010 Bern, SwitzerlandA number of hereditary ataxias are caused by inborn errors of metabolism (IEM), most of which are highly heterogeneous in their clinical presentation. Prompt diagnosis is important because disease-specific therapies may be available. In this review, we offer a comprehensive overview of metabolic ataxias summarized by disease, highlighting novel clinical trials and emerging therapies with a particular emphasis on first-in-human gene therapies. We present disease-specific treatments if they exist and review the current evidence for symptomatic treatments of these highly heterogeneous diseases (where cerebellar ataxia is part of their phenotype) that aim to improve the disease burden and enhance quality of life. In general, a multimodal and holistic approach to the treatment of cerebellar ataxia, irrespective of etiology, is necessary to offer the best medical care. Physical therapy and speech and occupational therapy are obligatory. Genetic counseling is essential for making informed decisions about family planning.https://www.mdpi.com/2073-4409/12/18/2314hereditary metabolic ataxiacerebellar ataxiainborn error of metabolismsymptomatic treatmentdisease-modifying treatmentGM2-gangliosidosis |
| spellingShingle | Tatiana Bremova-Ertl Jan Hofmann Janine Stucki Anja Vossenkaul Matthias Gautschi Inborn Errors of Metabolism with Ataxia: Current and Future Treatment Options Cells hereditary metabolic ataxia cerebellar ataxia inborn error of metabolism symptomatic treatment disease-modifying treatment GM2-gangliosidosis |
| title | Inborn Errors of Metabolism with Ataxia: Current and Future Treatment Options |
| title_full | Inborn Errors of Metabolism with Ataxia: Current and Future Treatment Options |
| title_fullStr | Inborn Errors of Metabolism with Ataxia: Current and Future Treatment Options |
| title_full_unstemmed | Inborn Errors of Metabolism with Ataxia: Current and Future Treatment Options |
| title_short | Inborn Errors of Metabolism with Ataxia: Current and Future Treatment Options |
| title_sort | inborn errors of metabolism with ataxia current and future treatment options |
| topic | hereditary metabolic ataxia cerebellar ataxia inborn error of metabolism symptomatic treatment disease-modifying treatment GM2-gangliosidosis |
| url | https://www.mdpi.com/2073-4409/12/18/2314 |
| work_keys_str_mv | AT tatianabremovaertl inbornerrorsofmetabolismwithataxiacurrentandfuturetreatmentoptions AT janhofmann inbornerrorsofmetabolismwithataxiacurrentandfuturetreatmentoptions AT janinestucki inbornerrorsofmetabolismwithataxiacurrentandfuturetreatmentoptions AT anjavossenkaul inbornerrorsofmetabolismwithataxiacurrentandfuturetreatmentoptions AT matthiasgautschi inbornerrorsofmetabolismwithataxiacurrentandfuturetreatmentoptions |