Serum metabolomics indicates ferroptosis in patients with pantothenate kinase associated neurodegeneration [PDF]
Scientific ReportsThe core syndrome among NBIA disorders is pantothenate kinase-associated neurodegeneration (PKAN), an autosomal recessive disorder caused by mutations in the PANK2 gene. There is no therapy for PKAN; only symptomatic treatment is available.
Beata Toczylowska +4 more
doaj +2 more sources
Pantothenate kinase-associated neurodegeneration: Clinical aspects, diagnosis and treatments [PDF]
Neurology International, 2018 Pantothenate Kinase-Associated Neurodegeneration (PKAN) is an autosomal recessive disorder characterized by a mutation in the PANK2 gene. The clinical presentation may range from only speech disorder to severe generalized dystonia, spasticity, Visual ...
Saeed Razmeh +5 more
doaj +2 more sources
Clinical Heterogeneity of Atypical Pantothenate Kinase-Associated Neurodegeneration in Koreans [PDF]
Journal of Movement Disorders, 2016 Objective Neurodegeneration with brain iron accumulation (NBIA) represents a group of inherited movement disorders characterized by iron accumulation in the basal ganglia.
Jae-Hyeok Lee +21 more
doaj +4 more sources
Diagnostic and clinical experience of patients with pantothenate kinase-associated neurodegeneration [PDF]
Orphanet Journal of Rare Diseases, 2019 Background Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive neurodegenerative disorder with brain iron accumulation (NBIA).
Randall D. Marshall +12 more
doaj +2 more sources
Redesigning therapies for pantothenate kinase-associated neurodegeneration. [PDF]
J Biol Chem, 2022 Pantothenate kinase-associated neurodegeneration (PKAN) is an incurable rare genetic disorder of children and young adults caused by mutations in the PANK2 gene, which encodes an enzyme critical for the biosynthesis of coenzyme A. Although PKAN affects only a small number of patients, it shares several hallmarks of more common neurodegenerative ...
Munshi MI, Yao SJ, Ben Mamoun C.
europepmc +4 more sources
Retinitis pigmentosa in pantothenate kinase-associated neurodegeneration [PDF]
Arquivos de Neuro-Psiquiatria, 2014 José Luiz Pedroso +4 more
doaj +3 more sources
Pantothenate kinase-associated neurodegeneration. [PDF]
Neurosciences (Riyadh), 2017 9-years-old girl, previously healthy, presented with progressive dystonia. Clinically, she have dysarthria and spastic gait. Her parents are first-degree cousins. She have a paternal cousins who have a similar symptoms started 3 years ago, currently he is bed ridden.
Hundallah K, Al Hakeem A.
europepmc +5 more sources
Natural history and genotype‐phenotype correlation of pantothenate kinase‐associated neurodegeneration [PDF]
CNS Neuroscience and Therapeutics, 2020 Xuting Chang, Yuwu Jiang
exaly +2 more sources
Pantothenate Kinase-Associated Neurodegeneration- Rare form of Neurodegeneration with Brain Iron Accumulation [PDF]
International Journal of Anatomy Radiology and Surgery, 2020 Pantothenate Kinase-Associated Neurodegeneration (PKAN), a rare autosomal recessive disorder is mainly caused by mutation in the PANK2 gene. PKAN is included in a group of disorders known as Neurodegeneration with Brain Iron Accumulation (NBIA ...
Anitha Kini, A Sowmya Chitra, GU Pravin
doaj +1 more source
A pilot trial of deferiprone for neurodegeneration with brain iron accumulation
Haematologica, 2011 Deferiprone was shown to reverse iron deposition in Friedreich’s ataxia. This multi-center, unblinded, single-arm pilot study evaluated safety and efficacy of deferiprone for reducing cerebral iron accumulation in neurodegeneration with brain iron ...
Giovanni Abbruzzese +11 more
doaj +1 more source