Treatment Responsiveness of Parkinsonism in Atypical Pantothenate Kinase‐Associated Neurodegeneration
Sign Up to like & getrecommendations! Published in 2020 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.13056
Abstract: Pantothenate kinase-associated neurodegeneration (PKAN) is a rare progressive autosomal recessive disease caused by mutations in the PANK2 gene. PANK2 encodes a pantothenate kinase, an enzyme involved in coenzyme A production. The clinical presentation of PKAN… read more here.
Keywords: pantothenate kinase; pkan; kinase associated; associated neurodegeneration ... See more keywords
Clinical rating scale for pantothenate kinase‐associated neurodegeneration: A pilot study
Sign Up to like & getrecommendations! Published in 2017 at "Movement Disorders"
DOI: 10.1002/mds.27129
Abstract: Pantothenate kinase‐associated neurodegeneration is a progressive neurological disorder occurring in both childhood and adulthood. The objective of this study was to design and pilot‐test a disease‐specific clinical rating scale for the assessment of patients with… read more here.
Keywords: pantothenate kinase; clinical rating; kinase associated; associated neurodegeneration ... See more keywords
Clinical course of patients with pantothenate kinase-associated neurodegeneration (PKAN) before and after DBS surgery
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Neurology"
DOI: 10.1007/s00415-019-09499-3
Abstract: Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive disorder with a progressive clinical course. In addition to symptomatic therapy, DBS has been increasingly recognized as a potential therapeutic strategy, especially in severe cases. Therefore,… read more here.
Keywords: improvement; pantothenate kinase; pkan; dbs ... See more keywords
Characterization and validation of Entamoeba histolytica pantothenate kinase as a novel anti-amebic drug target
Sign Up to like & getrecommendations! Published in 2018 at "International Journal for Parasitology: Drugs and Drug Resistance"
DOI: 10.1016/j.ijpddr.2018.02.004
Abstract: The Coenzyme A (CoA), as a cofactor involved in >100 metabolic reactions, is essential to the basic biochemistry of life. Here, we investigated the CoA biosynthetic pathway of Entamoeba histolytica (E. histolytica), an enteric protozoan… read more here.
Keywords: pank; pantothenate kinase; kinase; novel anti ... See more keywords
Acetyl-4′-phosphopantetheine is stable in serum and prevents phenotypes induced by pantothenate kinase deficiency
Sign Up to like & getrecommendations! Published in 2017 at "Scientific Reports"
DOI: 10.1038/s41598-017-11564-8
Abstract: Coenzyme A is an essential metabolite known for its central role in over one hundred cellular metabolic reactions. In cells, Coenzyme A is synthesized de novo in five enzymatic steps with vitamin B5 as the… read more here.
Keywords: pantothenate kinase; kinase; kinase deficiency; acetyl phosphopantetheine ... See more keywords
Cannabis Use in Children With Pantothenate Kinase–Associated Neurodegeneration
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Child Neurology"
DOI: 10.1177/0883073819890516
Abstract: Background: Pantothenate kinase–associated neurodegeneration is characterized by severe, progressive dystonia. This study aims to describe the reported usage of cannabis products among children with pantothenate kinase–associated neurodegeneration. Methods: A cross-sectional, 37-item survey was distributed in… read more here.
Keywords: cannabis; pantothenate kinase; kinase associated; associated neurodegeneration ... See more keywords
Phenotypic expression and founder effect of PANK2 c.1583C>T (p.T528M) mutation in Serbian pantothenate kinase-associated neurodegeneration patients
Sign Up to like & getrecommendations! Published in 2019 at "Archives of Biological Sciences"
DOI: 10.2298/abs181227009s
Abstract: Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder characterized by dystonia, parkinsonism, cognitive and visual impairment, and iron accumulation in the brain. Many cases of PKAN result from mutations in the PANK2 gene that… read more here.
Keywords: pantothenate kinase; pank2 1583c; founder; kinase associated ... See more keywords
Study design challenges and strategies in clinical trials for rare diseases: Lessons learned from pantothenate kinase-associated neurodegeneration
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2023.1098454
Abstract: Substantial challenges in study design and methodology exist during clinical trial development to examine treatment response in patients with a rare disease, especially those with predominant central nervous system involvement and heterogeneity in clinical manifestations… read more here.
Keywords: study design; rare disease; pantothenate kinase; disease ... See more keywords
Typical pantothenate kinase-associated neurodegeneration caused by compound heterozygous mutations in PANK2 gene in a Chinese patient: a case report and literature review
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2023.1170557
Abstract: Pantothenate kinase-associated neurodegeneration (PKAN) is a rare genetic neurodegenerative disorder with brain iron accumulation characterized as dysarthria, spasticity, cognitive impairment, parkinsonism, and retinopathy. PKAN is caused by biallelic mutations in the mitochondrial pantothenate kinase 2… read more here.
Keywords: associated neurodegeneration; pank2 gene; pantothenate kinase; kinase associated ... See more keywords
Evidence for a Conserved Function of Eukaryotic Pantothenate Kinases in the Regulation of Mitochondrial Homeostasis and Oxidative Stress
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms24010435
Abstract: Human PANK1, PANK2, and PANK3 genes encode several pantothenate kinase isoforms that catalyze the phosphorylation of vitamin B5 (pantothenic acid) to phosphopantothenate, a critical step in the biosynthesis of the major cellular cofactor, Coenzyme A… read more here.
Keywords: function; evidence conserved; pantothenate kinase; oxidative stress ... See more keywords
Two siblings with atypical pantothenate-kinase-associated neurodegeneration.
Sign Up to like & getrecommendations! Published in 2019 at "Neurology India"
DOI: 10.4103/0028-3886.263173
Abstract: Neurology India | Volume 67 | Issue 3 | May‐June 2019 883 How to cite this article: Maramattom BV, Bhattacharjee S. Decerebrate rigidity with preservation of consciousness in pontine hemorrhage with complete neurologic recovery. Neurol… read more here.
Keywords: neurology; pantothenate kinase; two siblings; atypical pantothenate ... See more keywords