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Erschienen in: Wiener Medizinische Wochenschrift 9-10/2017

01.06.2017 | main topic

Therapeutic strategies in adrenoleukodystrophy

verfasst von: Bela R. Turk, Ann B. Moser, Ali Fatemi

Erschienen in: Wiener Medizinische Wochenschrift | Ausgabe 9-10/2017

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Summary

Adrenoleukodystrophy (ALD) is an X‑linked hereditary disorder due to mutations of the ABCD1 gene, which encodes a peroxisomal transport protein necessary for very long-chain fatty acid degradation (VLCFA). Toxic accumulation thereof is associated with a proinflammatory state and eventual cell death in multiple tissues. ALD may manifest either as a fatal, rapidly progressive demyelinating disease in boys and adult men, or as a slowly progressive adult-onset long-tract myelopathy along with peripheral neuropathy. Our understanding of manifold mechanisms implicated in the disease pathology is currently incomplete, as neither genotype–phenotype correlation nor the trigger for cerebral disease has been described. Therapy objectives are therefore broadly aimed at correcting either the gene mutation or downstream molecular effects, such as oxidative stress. Advancements in disease detection, including the newly implemented newborn screening in the US and imaging modalities, allow for more timely intervention in the form of hematopoietic stem cell transplantation (HSCT), which may only be performed in early cerebral disease states.
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Metadaten
Titel
Therapeutic strategies in adrenoleukodystrophy
verfasst von
Bela R. Turk
Ann B. Moser
Ali Fatemi
Publikationsdatum
01.06.2017
Verlag
Springer Vienna
Erschienen in
Wiener Medizinische Wochenschrift / Ausgabe 9-10/2017
Print ISSN: 0043-5341
Elektronische ISSN: 1563-258X
DOI
https://doi.org/10.1007/s10354-016-0534-2

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