Pelizaeus–Merzbacher Disease

Harding, Brian

doi:10.1002/9781119013112.ch34

Cited by 4 publications

(1 citation statement)

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“…Pelizaeus–Merzbacher disease (PMD; OMIM #312080) is an X-linked recessive hypomyelinating leukodystrophy [ 225 ]. PMD is caused by hemizygous mutations in males or heterozygous variants in females with skewed X inactivation in the PLP1 gene, which encodes for both proteolipid protein-1 and the alternative splicing variant DM20, two of the most abundant proteins in the CNS myelin [ 226 , 227 ].…”

Section: Pediatric Neurological Disordersmentioning

confidence: 99%

Redox Imbalance in Neurological Disorders in Adults and Children

et al. 2023

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Oxygen is a central molecule for numerous metabolic and cytophysiological processes, and, indeed, its imbalance can lead to numerous pathological consequences. In the human body, the brain is an aerobic organ and for this reason, it is very sensitive to oxygen equilibrium. The consequences of oxygen imbalance are especially devastating when occurring in this organ. Indeed, oxygen imbalance can lead to hypoxia, hyperoxia, protein misfolding, mitochondria dysfunction, alterations in heme metabolism and neuroinflammation. Consequently, these dysfunctions can cause numerous neurological alterations, both in the pediatric life and in the adult ages. These disorders share numerous common pathways, most of which are consequent to redox imbalance. In this review, we will focus on the dysfunctions present in neurodegenerative disorders (specifically Alzheimer’s disease, Parkinson’s disease and amyotrophic lateral sclerosis) and pediatric neurological disorders (X-adrenoleukodystrophies, spinal muscular atrophy, mucopolysaccharidoses and Pelizaeus–Merzbacher Disease), highlighting their underlining dysfunction in redox and identifying potential therapeutic strategies.

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Section: Pediatric Neurological Disordersmentioning

confidence: 99%