Results 141 to 150 of about 1,518 (174)

Genetic Targets and Applications of Iron Chelators for Neurodegeneration with Brain Iron Accumulation. [PDF]

ACS Bio Med Chem Au
Marupudi N, Xiong MP.
europepmc   +1 more source

Estimation of Ambulation and Survival in Neurodegeneration with Brain Iron Accumulation Disorders. [PDF]

Mov Disord Clin Pract
Amini E, Rohani M, Lang AE, Azad Z, Habibi SAH, Alavi A, Shahidi G, Emamikhah M, Chitsaz A.   +8 more
europepmc   +1 more source

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Idiopathic Basal Ganglia Calcifications: An Atypical Presentation of PKAN

Pediatric Neurology, 2013
We report a patient with pantothenate kinase-associated neurodegeneration presenting as idiopathic basal ganglia calcifications, previously known as Fahr's disease.A teenage girl presented with slowly progressive dystonia. Her brain magnetic resonance imaging scan revealed T1 and T2 hypointensities in both globus pallidi, and no eye-of-the-tiger sign ...
Yvonne W Wu, Christopher P Hess, Nilika S Singhal   +2 more
exaly   +3 more sources

The acylcarnitine profile in patients with PKAN may mimic CPT1 deficiency

Molecular Genetics and Metabolism
Coenzyme A (CoA), synthesized from pantothenate, is an essential cofactor required for numerous pivotal enzymatic reactions. Abnormal acylcarnitine profiles similar to those observed in carnitine palmitoyltransferase 1 (CPT1) deficiency have been reported in patients with coenzyme A synthetase (COASY)-related diseases and phosphopantothenoylcysteine ...
Sebile Kilavuz, Gulten ÖZTÜRK, Dilşad Türkdoğan   +2 more
exaly   +3 more sources

Missense variants in PKAN: insights from a multi-patient genetic analysis

Neurogenetics
Pantothenate kinase-associated neurodegeneration (PKAN) is a common subtype of neurodegeneration with brain iron accumulation (NBIA), caused by biallelic variants in the PANK2 gene. In this study, we investigated five unrelated patients clinically suspected of PKAN (four atypical, one classical) using next-generation sequencing followed by Sanger ...
Sevcan Mercan, Sibel Aylin Ugur Iseri, Gültekin Murat   +2 more
exaly   +4 more sources

Changes in Red Blood Cell membrane lipid composition: A new perspective into the pathogenesis of PKAN

Molecular Genetics and Metabolism, 2017
Pantothenate Kinase-Associated Neurodegeneration (PKAN) is a form of Neurodegeneration with Brain Iron Accumulation (NBIA) associated with mutations in the pantothenate kinase 2 gene (PANK2).
Paola Antonia Corsetto, Gigliola Montorfano, Emilio Ciusani   +2 more
exaly   +2 more sources

4′‐Phosphopantetheine corrects CoA, iron, and dopamine metabolic defects in mammalian models of PKAN [PDF]

EMBO Molecular Medicine, 2019
Pantothenate kinase-associated neurodegeneration (PKAN) is an inborn error of CoA metabolism causing dystonia, parkinsonism, and brain iron accumulation.
Suh Young Jeong, Penelope Hogarth, Rachel Fox   +2 more
exaly   +2 more sources

Low-frequency rTMS of the premotor cortex reduces complex movement patterns in a patient with pantothenate kinase-associated neurodegenerative disease (PKAN)

Neurophysiologie Clinique, 2009
INTRODUCTION: Pantothenate kinase-associated neurodegenerative disease (PKAN) is a secondary generalized dystonia associated with an accumulation of iron in the basal ganglia and increased motor cortex excitability.
Veit Mylius, A Leonhardt, D Hellwig
exaly   +3 more sources

Hallervorden–Spatz Syndrome (PKAN)

2010
exaly   +2 more sources

A case of PKAN treated with botulinum toxin A

Toxicon, 2008
A 26-year-old girl had typical clinical presentation of pantothenate kinase associated neurodegeneration (PKAN) and autosomal recessive transmission was evaluated. She had marked contractions of the lower facial muscles and severe contraction of calf muscles, with both feet in a crooked position, more evident on the left side. Since infancy, she walked
Crisci Claudio, Esposito Marcello
openaire   +1 more source