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The Cerebellum

27-09-2024 | Review

The Latest Developments for the Treatment of Ataxia Telangiectasia: A Narrative Review

Authors: Ali Mehri, Mehran Beiraghi Toosi, Ali Reza Tavasoli, Maryam Saberi-Karimian

Published in: The Cerebellum

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Abstract

Ataxia telangiectasia (AT), Louis-Bar syndrome, is a rare neurodegenerative disorder caused by autosomal recessive biallelic mutations within the ataxia telangiectasia mutated (ATM) gene. Currently, there are no curative therapies available for this disorder. This review provides an overview of the latest advances in treatment methods including 1- Acetyl-DL-leucine, 2- Bone Marrow Transplantation, 3- Gene Therapy, 4- Dexamethasone, and finally 5- Red Blood Cells (RBCs) as a carrier for dexamethasone (encapsulation of dexamethasone sodium phosphate into autologous erythrocytes, known as EryDex). Most of the treatments under investigation are in the early stages, except for the EryDex System. It appears that the EryDex system and N-Acetyl-DL-Leucine may hold promise as potential treatment options.
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Metadata
Title
The Latest Developments for the Treatment of Ataxia Telangiectasia: A Narrative Review
Authors
Ali Mehri
Mehran Beiraghi Toosi
Ali Reza Tavasoli
Maryam Saberi-Karimian
Publication date
27-09-2024
Publisher
Springer US
Published in
The Cerebellum
Print ISSN: 1473-4222
Electronic ISSN: 1473-4230
DOI
https://doi.org/10.1007/s12311-024-01746-2

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