A 68-year-old male patient presented to the neurology clinic with tremor, lightheadedness, and a history of syncope. Exam showed mild Parkinsonism. Neuroimaging revealed symmetric lesions of the globus pallidus (the eye-of-the-tiger sign) concerning for neurodegeneration with brain iron accumulation (NBIA). Genetic panel for NBIA was ordered, specifically pantothenate kinase-associated neurodegeneration (PKAN), including pantothenate kinase 2 (PanK2) - the genetic marker for the pantothenate kinase enzyme.
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Glymphatic system in Pantothenase kinase associated neurodegeneration (PKAN).
Parkinsonism Relat Disord
December 2024
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.
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
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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.
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Department of Pediatrics and Neurology, Wayne State University, Detroit, MI, USA.
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Neurol India
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Department of Medicine, Base Hospital Delhi Cantt, New Delhi, India.
Hallervorden-Spatz syndrome, now known as pantothenate kinase-associated neurodegeneration (PKAN), is a rare autosomal recessive disorder that is characterized by cerebral iron deposition and leads to progressive extrapyramidal dysfunction and dementia. Most commonly seen in the first two decades of a person's life, it is a differential for patients presenting with atypical progressive extrapyramidal disorder and cognitive impairment. It is characterized by progressive degeneration of the basal ganglia, globus pallidus, and the reticular part of the substantia nigra due to iron accumulation.
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