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| http://dx.doi.org/10.17712/nsj.2017.2.20170197 | DOI Listing |
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Pathology and treatment methods in pantothenate kinase-associated neurodegeneration.
Postep Psychiatr Neurol
September 2024
Independent Public Health Care Institution named after doctor Kazimierz Hołoga, Nowy Tomyśl, Poland.
Purpose: The purpose of this review is to present current scientific reports on the pathophysiology, diagnosis and treatment of pantothenate kinase-associated neurodegeneration (PKAN).
Views: The condition is caused by a mutation in the PANK2 gene, which results in iron accumulation in the brain and changes in the functioning of biochemical pathways dependent on coenzyme A. There are two clinical types of PKAN, which differ in the time of onset of symptoms and speed of disease progression.
A therapeutic approach to pantothenate kinase associated neurodegeneration: a pilot study.
Orphanet J Rare Dis
November 2024
Andalusian Centre for Developmental Biology-CSIC-Pablo de Olavide University, 41013, Seville, Spain.
Article Synopsis
- * The diagnosis of PKAN relies on clinical observations, a specific brain MRI finding called the "eye of the tiger," and genetic testing for mutations in the pantothenate kinase 2 (PANK2) gene, which plays a crucial role in coenzyme A (CoA) production.
- * Research shows that combining multitarget supplements (like pantothenate, pantethine, omega-3, and vitamin E) with standard
Case report: Asymmetric bilateral deep brain stimulation for the treatment of pantothenate kinase-associated neurodegeneration in a patient: a unique case of atypical PKAN with a novel heterozygous PANK2 mutation.
Front Hum Neurosci
October 2024
Department of Neurology, Shenzhen People's Hospital (The Second Clinical Medical College, Jinan University, The First Affiliated Hospital Southern University of Science and Technology), Shenzhen, China.
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive hereditary neurodegenerative disorder, usually caused by mutations in the pantothenate kinase 2 (PANK2) gene. We report a young female patient with atypical PKAN, harboring a novel heterozygous PANK2 mutation, diagnosed through clinical imaging and genetic analysis. The patient presented with dystonia and motor dysfunction after onset, but early brain MRI showed normal findings.
View Article and Find Full Text PDFPatient Selection for Deep Brain Stimulation for Pantothenate Kinase-Associated Neurodegeneration.
Tremor Other Hyperkinet Mov (N Y)
October 2024
Norman Fixel Institute for Neurological Diseases, University of Florida, Gainesville, Florida, USA.
Clinical Vignette: A 23-year-old woman with pantothenate kinase-associated neurodegeneration (PKAN) presented with medication-refractory generalized dystonia and an associated gait impairment.
Clinical Dilemma: Bilateral globus pallidus internus (GPi) deep brain stimulation (DBS) can be an effective treatment for dystonia. However, outcomes for PKAN DBS have been variable and there are no standardized criteria for patient selection.
Metabolic alterations in fibroblasts of patients presenting with the MPAN subtype of neurodegeneration with brain iron accumulation (NBIA).
Biochim Biophys Acta Mol Basis Dis
January 2025
Laboratory of Mitochondrial Biology and Metabolism, Nencki Institute of Experimental Biology, Polish Academy of Sciences, Warsaw, Poland. Electronic address:
Article Synopsis
- Mutations in several genes, like PANK2 and PLA2G6, are linked to different subtypes of the inherited disease Neurodegeneration with Brain Iron Accumulation (NBIA), with four main subtypes accounting for the majority of cases.
- Recent findings suggest additional mutations affecting iron and lipid metabolism may also contribute to the disease's development.
- A study on fibroblasts from patients with C19orf12 mutations found abnormalities that correlated with disease severity, indicating these cellular changes could be important in understanding the pathomechanism of NBIA.
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