Cell Death and Disease, 2022 Neurodegeneration associated with defective pantothenate kinase-2 (PKAN) is an early-onset monogenic autosomal-recessive disorder. The hallmark of the disease is the massive accumulation of iron in the globus pallidus brain region of patients.
Paolo Santambrogio +9 more
doaj +1 more source
Pharmaceutics, 2023 The novel brain-penetrant peroxisome proliferator-activated receptor gamma agonist leriglitazone, previously validated for other rare neurodegenerative diseases, is a small molecule that acts as a regulator of mitochondrial function and exerts ...
Paolo Santambrogio +9 more
doaj +1 more source
Novel PANK2 mutation identified in patient with pantothenate kinase-associated neurodegeneration [PDF]
Srpski Arhiv za Celokupno Lekarstvo, 2020 Introduction. Pantothenate kinase-associated neurodegeneration (PKAN) is a rare, recessively inherited disorder caused by mutations in the pantothenate kinase 2 (PANK2) gene on chromosome 20p13.
Svetel Marina +4 more
doaj +1 more source
Abnormal Newborn Screening Resembling Carnitine Palmitoyltransferase 1a Deficiency in Three Patients With <i>COASY</i> Protein Associated Neurodegeneration. [PDF]
JIMD RepABSTRACT COASY protein associated neurodegeneration is a rare, progressive autosomal recessive neuroferritinopathy due to pathogenic mutations in the COASY gene, coding for the mitochondrial located coenzyme A synthase. Clinical manifestations include seizures, progressive spasticity, dystonia, neuropathy, cognitive decline and neuropsychiatric ...
Lynch M +8 more
europepmc +2 more sources
Functional connectivity of the motor system in dystonia due to PKAN
eNeurologicalSci, 2021 Published by Elsevier, Amsterdam [u.a.]
Stoeter, Peter +5 more
openaire +4 more sources
Pantothenate Kinase-Associated Neurodegeneration (PKAN)
Asuncion RMD, Zulfiqar H, Bokhari SRA.
europepmc +3 more sources
Frontiers in Neurology, 2023 The PANK2 gene, which encodes mitochondrial pantothenate kinase 2 protein, is the disease-causing gene for pantothenate kinase-associated neurodegeneration (PKAN).
Siqi Dong +11 more
doaj +1 more source
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
Very Late-Onset Neurodegeneration with Brain Iron Accumulation Associated with Mild Chorea: A Clinicopathological Case. [PDF]
Mov Disord Clin PractAbstract Background Neurodegeneration with Brain Iron Accumulation (NBIA) rarely manifests after the age of 50 years. The phenotype in these cases is most often parkinsonism. Objectives To present the case with the oldest age of NBIA onset reported so far. Methods Clinico‐pathological case.
Sipilä JOT +6 more
europepmc +2 more sources
Long-Term Outcomes of Deep Brain Stimulation in Pantothenate Kinase-Associated Neurodegeneration-Related Dystonia [PDF]
Journal of Movement Disorders, 2022 Objective To investigate the long-term clinical outcomes of pallidal deep brain stimulation (GPi-DBS) in patients with pantothenate kinase-associated neurodegeneration (PKAN).
Kyung Ah Woo +9 more
doaj +1 more source