Pallidal degenerations and related disorders: an update

Jellinger, K. A.

doi:10.1007/s00702-021-02392-2

Cited by 2 publications

(2 citation statements)

References 181 publications

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“…The hallmarks of Hallervorden–Spatz disease (HSD) include extrapyramidal stiffness, dystonia, retinal degeneration, and dementia. Iron deposition occurs pathologically in the globus pallidus and zona reticularis of the substantia nigra, as well as in the axonal spheroids of these and other brain regions 80 . Currently known as PKAN, pantothenate kinase-associated neurodegeneration is a rare metabolic inborn defect and the most prevalent NBIA variant, accounting for around 50% of cases 81 .…”

Section: Iron Chelators and Neurodegeneration With Brain Iron Accumul...mentioning

confidence: 99%

Iron chelators: as therapeutic agents in diseases

Salimi,

Afsharinasab,

Rostami

et al. 2024

Annals of Medicine &Amp; Surgery

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The concentration of iron is tightly regulated, making it an essential element. Various cellular processes in the body rely on iron, such as oxygen sensing, oxygen transport, electron transfer, and DNA synthesis. Iron excess can be toxic because it participates in redox reactions that catalyze the production of reactive oxygen species (ROS) and elevate oxidative stress. Iron chelators are chemically diverse; they can coordinate six ligands in an octagonal sequence. Because of the ability of chelators to trap essential metals, including iron, they may involve in diseases caused by oxidative stress, such as infectious diseases, cardiovascular diseases, neurodegenerative diseases, and cancer. Iron chelating agents, by tightly binding to iron, prohibit it from functioning as a catalyst in redox reactions and transfer iron and excrete it from the body. Thus, using iron chelators as therapeutic agents has received increasing consideration. This review investigates the function of various iron chelators in treating ‎iron overload in different clinical conditions.

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Section: Iron Chelators and Neurodegeneration With Brain Iron Accumul...mentioning

confidence: 99%

Iron chelators: as therapeutic agents in diseases

Salimi,

Afsharinasab,

Rostami

et al. 2024

Annals of Medicine &Amp; Surgery

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“…The age of onset is usually in the second decade of life. Additional clinical features may include tremor, facial-faucial-finger mini myoclonus, oculogyric dystonic spasms, slow saccadic eye movement, peripheral neuropathy, and visual hallucinations [ 163 , 164 , 165 , 166 , 167 , 168 , 169 , 170 , 171 , 172 , 173 ]. Brain MRI may display generalized brain atrophy with bilateral putaminal and caudate iron accumulation [ 165 , 174 , 175 , 176 ].…”

Section: Monogenic Causes Of Pd Associated With Endolysosomal and Ves...mentioning

confidence: 99%

Genetic Evidence for Endolysosomal Dysfunction in Parkinson’s Disease: A Critical Overview

Yahya

Fonzo

Monfrini

2023

IJMS

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Parkinson’s disease (PD) is the second most common neurodegenerative disorder in the aging population, and no disease-modifying therapy has been approved to date. The pathogenesis of PD has been related to many dysfunctional cellular mechanisms, however, most of its monogenic forms are caused by pathogenic variants in genes involved in endolysosomal function (LRRK2, VPS35, VPS13C, and ATP13A2) and synaptic vesicle trafficking (SNCA, RAB39B, SYNJ1, and DNAJC6). Moreover, an extensive search for PD risk variants revealed strong risk variants in several lysosomal genes (e.g., GBA1, SMPD1, TMEM175, and SCARB2) highlighting the key role of lysosomal dysfunction in PD pathogenesis. Furthermore, large genetic studies revealed that PD status is associated with the overall “lysosomal genetic burden”, namely the cumulative effect of strong and weak risk variants affecting lysosomal genes. In this context, understanding the complex mechanisms of impaired vesicular trafficking and dysfunctional endolysosomes in dopaminergic neurons of PD patients is a fundamental step to identifying precise therapeutic targets and developing effective drugs to modify the neurodegenerative process in PD.

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Pallidal degenerations and related disorders: an update

Cited by 2 publications

References 181 publications

Iron chelators: as therapeutic agents in diseases

Iron chelators: as therapeutic agents in diseases

Genetic Evidence for Endolysosomal Dysfunction in Parkinson’s Disease: A Critical Overview

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