Zaporožskij Medicinskij Žurnal, 2021 Aim. To analyze current data of scientific literature on the etiology, pathogenesis, approaches to the diagnosis and treatment of rare orphan disease – pantothenate kinase-associated neurodegeneration and to describe the clinical case of this disease.
Yu. H. Antypkin +6 more
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Harmful Iron-Calcium Relationship in Pantothenate kinase Associated Neurodegeneration [PDF]
International Journal of Molecular Sciences, 2020 Pantothenate Kinase-associated Neurodegeneration (PKAN) belongs to a wide spectrum of diseases characterized by brain iron accumulation and extrapyramidal motor signs. PKAN is caused by mutations in PANK2, encoding the mitochondrial pantothenate kinase 2, which is the first enzyme of the biosynthesis of Coenzyme A.
Paolo Santambrogio +2 more
exaly +5 more sources
Pantothenate Kinase Associated Neurodegeneration in Two Brothers
Acta Médica Portuguesa, 2015 Keywords: Neurodegenerative Diseases; Phosphotransferases (Alcohol Group Acceptor); Siblings.
Bruno Niemeyer de Freitas Ribeiro +3 more
doaj +4 more sources
Fosmetpantotenate (RE-024), a phosphopantothenate replacement therapy for pantothenate kinase-associated neurodegeneration: Mechanism of action and efficacy in nonclinical models. [PDF]
PLoS ONE, 2018 In cells, phosphorylation of pantothenic acid to generate phosphopantothenic acid by the pantothenate kinase enzymes is the first step in coenzyme A synthesis.
Daniel Elbaum +7 more
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Acanthocytes in Pantothenate Kinase Associated Neurodegeneration
, 2006 Hallervorden-Spatz syndrome (HSS) and HARP syndrome (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration) were shown to be due to mutations in the gene for pantothenate kinase 2 (PANK2). It was suggested that this group of disorders should now be referred to as pantothenate kinase associated neurodegeneration ...
Klopstock T., Elstner M., Malandrini A.
openaire +4 more sources
Pallidal stimulation improves pantothenate kinase–associated neurodegeneration
Annals of Neurology, 2005 AbstractPantothenate kinase–associated neurodegeneration (PKAN) causes a progressive generalized dystonia which remains pharmacologically intractable. We performed bilateral internal globus pallidus stimulation in six patients with genetically confirmed PKAN who obtained a major and long‐lasting improvement of their painful spasms, dystonia, and ...
Castelnau P +7 more
openaire +6 more sources
Case report: MR spectroscopy in pantothenate kinase-2 associated neurodegeneration
Indian Journal of Radiology and Imaging, 2010 We report a case of a 13-year-old girl with Hallervorden-Spatz disease (HSD) or pantothenate kinase-2 associated neurodegeneration (PKAN). HSD is a rare neurodegenerative disorder, which is characterized by a rapidly progressive extrapyramidal syndrome ...
Umesh C Parashari +4 more
doaj +5 more sources
A novel homozygous variation in the PANK2 gene in two Persian siblings with atypical pantothenate kinase associated neurodegeneration [PDF]
Neurology International, 2019 Pantothenate Kinase-associated Neurodegeneration (PKAN) is an autosomal recessive disorder that is caused by variation in pantothenate kinase-2 gene (PANK2) gene on chromosome 20.
Amir Hasan Habibi +7 more
doaj +2 more sources
A therapeutic approach to pantothenate kinase associated neurodegeneration: a pilot study [PDF]
Orphanet Journal of Rare DiseasesBackground Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic neurological disorders frequently associated with iron accumulation in the basal nuclei of the brain characterized by progressive spasticity, dystonia, muscle rigidity,
Alessandra Pereira +4 more
doaj +2 more sources
Pantothenate Kinase-associated Neurodegeneration with Dysarthria
Indian Journal of Physical Medicine & RehabilitationPantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive neurodegenerative disease with brain iron accumulation (NBIA), caused by mutation in the PANK2 gene. Patients can have classic or atypical presentations.
Rabia Uddin, Suman Badhal, Annie Mathew
doaj +2 more sources