Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal-recessive disorder caused by mutations in the PANK2 gene. The authors report clinical and genetic findings of 16 patients with PKAN. The authors identified 12 mutations in the PANK2 gene, five of which were new. Only nine patients could be classified as classic or atypical PKAN, and intermediate phenotypes are described. Two patients presented with motor tics and obsessive-compulsive behavior suggestive of Tourette syndrome.
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Glymphatic system in Pantothenase kinase associated neurodegeneration (PKAN).
Parkinsonism Relat Disord
February 2025
Department of Neurology, CEDIMAT, Santo Domingo, Dominican Republic. Electronic address:
Purpose: To investigate if accumulation of iron in the globus pallidus as seen in patients suffering from Pantothenase Kinase Associated Neurodegeneration (PKAN), is related to damage of the cerebral glymphatic system.
Material And Methods: In a group of 24 patients and an age-matched control group, functionality of the glymphatic system was assessed by the index of Analysis aLong the Perivascular Space (ALPS) from Diffusion Tensor Imaging data and correlated to the values of the T2∗ Times of the globus pallidus and the cerebral white matter measured by a Fast Field Echo sequence.
Results: In spite of the important reduction of the T2∗ Time of the globus pallidus, ALPS values of patients and controls were very similar and did not correlate to T2∗Time values in either group.
Pathology and treatment methods in pantothenate kinase-associated neurodegeneration.
Postep Psychiatr Neurol
September 2024
Independent Public Health Care Institution named after doctor Kazimierz Hołoga, Nowy Tomyśl, Poland.
Purpose: The purpose of this review is to present current scientific reports on the pathophysiology, diagnosis and treatment of pantothenate kinase-associated neurodegeneration (PKAN).
Views: The condition is caused by a mutation in the PANK2 gene, which results in iron accumulation in the brain and changes in the functioning of biochemical pathways dependent on coenzyme A. There are two clinical types of PKAN, which differ in the time of onset of symptoms and speed of disease progression.
A therapeutic approach to pantothenate kinase associated neurodegeneration: a pilot study.
Orphanet J Rare Dis
November 2024
Andalusian Centre for Developmental Biology-CSIC-Pablo de Olavide University, 41013, Seville, Spain.
Article Synopsis
- * The diagnosis of PKAN relies on clinical observations, a specific brain MRI finding called the "eye of the tiger," and genetic testing for mutations in the pantothenate kinase 2 (PANK2) gene, which plays a crucial role in coenzyme A (CoA) production.
- * Research shows that combining multitarget supplements (like pantothenate, pantethine, omega-3, and vitamin E) with standard
Case report: Asymmetric bilateral deep brain stimulation for the treatment of pantothenate kinase-associated neurodegeneration in a patient: a unique case of atypical PKAN with a novel heterozygous PANK2 mutation.
Front Hum Neurosci
October 2024
Department of Neurology, Shenzhen People's Hospital (The Second Clinical Medical College, Jinan University, The First Affiliated Hospital Southern University of Science and Technology), Shenzhen, China.
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive hereditary neurodegenerative disorder, usually caused by mutations in the pantothenate kinase 2 (PANK2) gene. We report a young female patient with atypical PKAN, harboring a novel heterozygous PANK2 mutation, diagnosed through clinical imaging and genetic analysis. The patient presented with dystonia and motor dysfunction after onset, but early brain MRI showed normal findings.
View Article and Find Full Text PDFPatient Selection for Deep Brain Stimulation for Pantothenate Kinase-Associated Neurodegeneration.
Tremor Other Hyperkinet Mov (N Y)
October 2024
Norman Fixel Institute for Neurological Diseases, University of Florida, Gainesville, Florida, USA.
Clinical Vignette: A 23-year-old woman with pantothenate kinase-associated neurodegeneration (PKAN) presented with medication-refractory generalized dystonia and an associated gait impairment.
Clinical Dilemma: Bilateral globus pallidus internus (GPi) deep brain stimulation (DBS) can be an effective treatment for dystonia. However, outcomes for PKAN DBS have been variable and there are no standardized criteria for patient selection.
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