Inborn Errors of Metabolism with Ataxia: Current and Future Treatment Options.
GM2-gangliosidosis
Niemann-Pick type C
abetalipoproteinemia
acetyl-DL-leucine
acetyl-L-leucine
biomarkers
cerebellar ataxia
cerebrotendinous xanthomatosis
disease-modifying treatment
disorders of carbohydrate metabolism
hereditary metabolic ataxia
inborn error of metabolism
lysosomal storage disorders
metabolic diseases
neurodegeneration
neuroprotection
ocular motor
symptomatic treatment
Journal
Cells
ISSN: 2073-4409
Titre abrégé: Cells
Pays: Switzerland
ID NLM: 101600052
Informations de publication
Date de publication:
19 Sep 2023
19 Sep 2023
Historique:
received:
15
08
2023
revised:
09
09
2023
accepted:
15
09
2023
medline:
28
9
2023
pubmed:
28
9
2023
entrez:
28
9
2023
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 37759536
pii: cells12182314
doi: 10.3390/cells12182314
pmc: PMC10527548
pii:
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
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