<![CDATA[ Pantothenate Kinase-associated Neurodegeneration]]> https://benthamscience.com RSS Feed for Disease Wise Article | BenthamScience EurekaSelect (+http://eurekaselect.com) Wed, 28 Feb 2024 18:44:59 +0000 <![CDATA[ Pantothenate Kinase-associated Neurodegeneration]]> https://benthamscience.com https://benthamscience.com <![CDATA[Systemic Redox Biomarkers in Neurodegenerative Diseases]]>https://benthamscience.comarticle/68521 <![CDATA[Genomic and Pharmacogenomic Biomarkers of Parkinson’s Disease]]>https://benthamscience.comarticle/59809 <![CDATA[Consequences of Iron Accumulation in Microglia and its Implications in Neuropathological Conditions]]>https://benthamscience.comarticle/56199 <![CDATA[The Journey From Metabolic Profiling to Biomarkers: The Potential of NMR Spectroscopy Based Metabolomics in Neurodegenerative Disease Research]]>https://benthamscience.comarticle/49753

In terms of biomarker research, hope has been set on small molecules that participate in metabolism, since they provide a closer link between cellular mechanisms (with genetic as well as environmental inputs) and the disease phenotype. More specifically, it is expected that not one but a combination of several metabolites may serve as an indicator for disease onset and progression, given that neurodegenerative diseases, whilst often described as “idiopathic”, are understood to arise from complex pathologies expressing themselves with a broad spectrum of phenotypes. Therefore, non-targeted metabolic profiling appears to offer great potential for biomarker discovery in this area.

One of the major technical platforms for non-targeted metabolic profiling is high resolution nuclear magnetic resonance (NMR) spectroscopy, a technique that is also available for the non-invasive application in vivo. Hence, in theory, biomarker discovery research using NMR spectroscopy based metabolomics provides a promising means for translation from in vitro/ex vivo research to eventual clinical use. This review will therefore discuss the potential for NMR spectroscopy based metabolomics to be applied to biomarker discovery in the field of neurodegenerative disease.]]> <![CDATA[Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA)]]>https://benthamscience.comarticle/48887

Our aim here is to provide an overview of historical developments of research into iron metabolism and its relevance in neurodegenerative disorders. We then focus on clinical features and investigational findings in NBIA and summarize therapeutic results reviewing reports of iron chelation therapy and deep brain stimulation. We also discuss genetic and molecular underpinnings of the NBIA syndromes.

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<![CDATA[Editorial (Hot Topic: Neurodegeneration with Brain Iron Accumulation)]]>https://benthamscience.comarticle/44581 <![CDATA[Pantothenate Kinase-Associated Neurodegeneration]]>https://benthamscience.comarticle/44582

With no causal therapy available for PKAN until now, only symptomatic treatment is possible. A multi-centre retrospective study with bilateral pallidal deep brain stimulation in patients with NBIA revealed a significant improvement of dystonia. Recently, studies in the PANK Drosophila model “fumble” revealed improvement by the compound pantethine which is hypothesized to feed an alternate CoA biosynthesis pathway. In addition, pilot studies with the iron chelator deferiprone that crosses the blood brain barrier showed a good safety profile and some indication of efficacy. An adequately powered randomized clinical trial will start in 2012.

This review summarizes clinical presentation, neuropathology and pathogenesis of PKAN.]]> <![CDATA[ Pantothenate Utilization by Plasmodium as a Target for Antimalarial Chemotherapy]]>https://benthamscience.comarticle/30107