Diagnosis and Treatment of Pantothenate Kinase-Associated Neurodegeneration (PKAN): A Systematic Review. [PDF]
Cureus, 2023 Pohane MR, Dafre R, Sontakke NG.
europepmc +1 more source
Case Report: Hallervorden–Spatz Syndrome with Seizures
Basic and Clinical Neuroscience, 2016 Hallervorden-Spatz syndrome is a disorder characterized by dystonia, parkinsonism, and iron accumulation in the brain. The disease is caused by mutations in gene encoding pantothenate kinase 2 (PANK2) and patients have pantothenate kinase ...
Sunil Gothwal, Swati Nayan
doaj
Scientific Reports, 2017 Pantothenate kinase-associated neurodegeneration is a rare hereditary neurodegenerative disorder associated with nucleotide variation(s) in mitochondrial human Pantothenate kinase 2 (hPanK2) protein encoding PANK2 gene, and is characterized by symptoms ...
Arshia Angural +10 more
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Pantothenate Kinase-Associated Neurodegeneration (PKAN) With Concomitant Blepharospasm: Unveiling a Clinical Enigma. [PDF]
Cureus, 2023 Reddy V +4 more
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Parkinson's Disease, 2010 Pantothenate kinase-associated neurodegeneration (PKAN) is a familial or sporadic disease characterized by extrapyramidal and corticospinal signs with dementia. Patients show iron accumulation in the basal ganglia, with neuronal loss and gliosis.
Maria Livia Fantini +8 more
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Neurodegeneration with Brain Iron Accumulation in an Eleven-Year-Old Jamaican Male
Case Reports in Radiology, 2014 We present a case of an eleven-year-old boy presenting with progressive extrapyramidal signs and dementia. His imaging findings demonstrated the classic eye-of-the-tiger sign on T2W magnetic resonance imaging.
Peter Johnson +3 more
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Patient and caregiver experiences with pantothenate kinase-associated neurodegeneration (PKAN): results from a patient community survey. [PDF]
Orphanet J Rare Dis, 2023 Klopstock T +15 more
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The first Vietnamese patient who presented late onset of pantothenate kinase-associated neurodegeneration diagnosed by whole exome sequencing: A case report. [PDF]
Medicine (Baltimore), 2023 Tran VK +7 more
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, 2004 Common clinical, radiologic, and pathologic features in infantile neuroaxonal dystrophy (INAD) and pantothenate kinase-associated neurodegeneration (PKAN) have led to the hypothesis of an allelic relationship.
Hortnagel, K;Nardocci, N;Zorzi, G;Garavaglia, B;Botz, E;Meitinger, T;Klopstock, T
core
Study design challenges and strategies in clinical trials for rare diseases: Lessons learned from pantothenate kinase-associated neurodegeneration. [PDF]
Front Neurol, 2023 Videnovic A +7 more
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