Therapeutische Strategien bei Adrenoleukodystrophie

Translated title of the contribution: Therapeutic strategies in adrenoleukodystrophy

Bela R. Turk, Ann B. Moser, Ali Fatemi

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Translated title of the contributionTherapeutic strategies in adrenoleukodystrophy
Original languageGerman
Pages (from-to)1-8
Number of pages8
JournalWiener Medizinische Wochenschrift
DOIs
StateAccepted/In press - May 10 2017

Keywords

  • Demyelinating Diseases
  • Hematopoietic Stem Cell Transplantation
  • Leukoencephalopathies
  • Therapeutics

ASJC Scopus subject areas

  • Medicine(all)

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