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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 PDFCarbamazepine responsive episodic dystonia and hallucination due to pyruvate dehydrogenase E2 (DLAT) gene mutation.
J Neurogenet
June 2024
Department of Pediatrics and Neurology, Wayne State University, Detroit, MI, USA.
Pyruvate Dehydrogenase (PDH) E2 deficiency due to Dihydrolipoamide acetyltransferase (DLAT) mutations is a very rare condition with only nine reported cases to date. We describe a 15-year-old girl with mild intellectual disability, paroxysmal dystonia and bilateral basal ganglia signal abnormalities on brain magnetic resonance imaging (MRI). Additionally, neurophysiological, imaging, metabolic and exome sequencing studies were performed.
View Article and Find Full Text PDFEye morphology in four species of tiger beetles (Coleoptera: Cicindelidae).
Zoology (Jena)
July 2024
Department of Biology, Ecology and Earth Science (DiBEST), University of Calabria, Via P. Bucci 4/B, Rende, Cosenza 87036, Italy. Electronic address:
Compound eyes undoubtedly represent the widespread eye architecture in the animal kingdom. The insects' compound eye shows a wide variety of designs, and insects use their visual capacity to accomplish several tasks, including avoiding enemies, searching for food and shelter, locating a mate, and acquiring information about the environment and its surroundings. Broad literature data support the concept that visual ability lies in the way the eyes are built.
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