832 results match your criteria: "Hallervorden-Spatz Disease"
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.
Orphanet J Rare Dis
November 2024
Andalusian Centre for Developmental Biology-CSIC-Pablo de Olavide University, 41013, Seville, Spain.
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 PDFTremor 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.
Biochim Biophys Acta Mol Basis Dis
January 2025
Laboratory of Mitochondrial Biology and Metabolism, Nencki Institute of Experimental Biology, Polish Academy of Sciences, Warsaw, Poland. Electronic address:
Neurologia (Engl Ed)
October 2024
Unidad de Atención Integral Paliativa Pediátrica, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.
Biochim Biophys Acta Bioenerg
January 2025
Laboratory of Mitochondrial Biology and Metabolism, Nencki Institute of Experimental Biology, Warsaw, Poland. Electronic address:
Neurodegeneration with brain iron accumulation (NBIA) is a broad, heterogeneous group of rare inherited diseases (1-3 patients/1,000,000 people) characterized by progressive symptoms associated with excessive abnormal iron deposition in the brain. Approximately 15,000-20,000 individuals worldwide are estimated to be affected by NBIA. NBIA is usually associated with slowly progressive pyramidal and extrapyramidal symptoms, axonal motor neuropathy, optic nerve atrophy, cognitive impairment and neuropsychiatric disorders.
View Article and Find Full Text PDFJ Med Chem
August 2024
Department of Chemical Biology and Therapeutics, St. Jude Children's Research Hospital, 262 Danny Thomas Place, MS1000, Memphis, Tennessee 38105, United States.
Conversion of pantothenate to phosphopantothenate in humans is the first dedicated step in the coenzyme A (CoA) biosynthesis pathway and is mediated by four isoforms of pantothenate kinase. These enzymes are allosterically regulated by acyl-CoA levels, which control the rate of CoA biosynthesis. Small molecule activators of the PANK enzymes that overcome feedback suppression increase CoA levels in cultured cells and animals and have shown great potential for the treatment of pantothenate kinase-associated neurodegeneration and propionic acidemias.
View Article and Find Full Text PDFToxins (Basel)
June 2024
Division of Movement Disorders, Department of Neurology, University of Louisville School of Medicine, Louisville, KY 40202, USA.
ACS Bio Med Chem Au
June 2024
Department of Pharmaceutical & Biomedical Sciences, College of Pharmacy, University of Georgia, Athens, Georgia 30602-2352, United States.
Neurodegeneration with brain iron accumulation (NBIA) is a group of neurodegenerative diseases that are typically caused by a monogenetic mutation, leading to development of disordered movement symptoms such as dystonia, hyperreflexia, etc. Brain iron accumulation can be diagnosed through MRI imaging and is hypothesized to be the cause of oxidative stress, leading to the degeneration of brain tissue. There are four main types of NBIA: pantothenate kinase-associated neurodegeneration (PKAN), PLA2G6-associated neurodegeneration (PLAN), mitochondrial membrane protein-associated neurodegeneration (MKAN), and beta-propeller protein-associated neurodegeneration (BPAN).
View Article and Find Full Text PDFClin Neurol Neurosurg
June 2024
Functional Neurosurgery Department, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China; Laboratory for Clinical Medicine, Capital Medical University, Beijing, China. Electronic address:
Background: Pantothenate kinase-associated neurodegeneration (PKAN) is a type of inherited metabolic disorder caused by mutation in the PANK2 gene. The metabolic disorder mainly affects the basal ganglia region and eventually manifests as dystonia. For patients of dystonia, their dystonic symptom may progress to life-threatening emergency--status dystonicus.
View Article and Find Full Text PDFNeurol India
March 2024
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.
View Article and Find Full Text PDFSAGE Open Med Case Rep
April 2024
Department of Genetics, Yucatan Health Services, General Hospital "Dr. Agustin O'Horan", Yucatan, Mexico.
Pantothenate kinase-associated neurodegeneration (PKAN, OMIM: 234200) results from biallelic pathogenic variants in which encodes pantothenate kinase 2, a crucial mitochondrial enzyme involved in coenzyme A biosynthesis. Pantothenate kinase-associated neurodegeneration patients typically exhibit the distinctive "eye of the tiger" sign on brain magnetic resonance imaging in the globus pallidus, along with psychiatric symptoms, extrapyramidal movements such as parkinsonism and dystonia, eventual speech and gait impairments, and the presence of dysphagia. An 11-year-old girl, with fifth-degree consanguinity, demonstrated typical psychomotor development and growth until the age of 5, when she began experiencing psychiatric symptoms.
View Article and Find Full Text PDFMov Disord
August 2024
Child Neuropsychiatry Movement Disorders Unit, Pediatric Neuroscience Department, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Background: Invasive treatments like radiofrequency stereotactic lesioning or deep brain stimulation of the globus pallidus internus can resolve drug-resistant status dystonicus (SD). However, these open procedures are not always feasible in patients with SD.
Objective: The aim was to report the safety and efficacy of simultaneous asleep bilateral transcranial magnetic resonance-guided focused ultrasound (MRgFUS) pallidotomy for life-threatening SD.
Neuropediatrics
August 2024
Division of Pediatric Neurology, Department of Paediatrics, University Hospital Centre Zagreb, Zagreb, Croatia.
Mov Disord
May 2024
Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.
Neurol India
January 2024
Department of Neurology, King George's Medical University, Lucknow, Uttar Pradesh, India.
Mov Disord Clin Pract
January 2024
Department of Neurology, Isfahan University of Medical Sciences, Isfahan, Iran.
Neurol Neurochir Pol
April 2024
Radiology Department, Institute for Child and Youth Healthcare of Vojvodina, Novi Sad, Serbia.
Oxf Med Case Reports
December 2023
Radiology Department, Children's Hospital of Rabat, Mohammed V University, Rabat, Morocco.
Pantothenate kinase-associated neurodegeneration (or previously known as Hallervorden-Spatz syndrome) is a very rare disorder that typically manifests in a child with neurological signs such as gait difficulties, dysarthria, and hyperreflexia, associated potentially with psychiatric symptoms such as cognitive decline. It demonstrates on MRI the typical 'eye of the tiger' appearance, which is due to gliosis and accumulation of iron in the globi pallidi. Other differentials can mimic this appearance on MRI, it is therefore important to search for the involvement of other basal ganglia nuclei and the cerebral cortex, and also to consider the clinical and biological context.
View Article and Find Full Text PDFClin Neurol Neurosurg
January 2024
Department of Neurology, Rasoul Akram Hospital, School of Medicine, Iran University of Medical Sciences, Tehran 1445613131, Iran; Skull Base Research Center, The Five Senses Health Institute, Rasoul Akram Hospital, School of Medicine, Iran University of Medical Sciences, Tehran 1445613131, Iran.
Brain Neurorehabil
November 2023
University of Kentucky, Lexington, KY, USA.
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive disorder characterized by progressive motor symptoms, such as dystonia and spasticity. Classical PKAN is the most common subtype of neurodegeneration with brain iron accumulation (NBIA). Currently, there is no established treatment for PKAN.
View Article and Find Full Text PDFBiomedicines
November 2023
Molecular & Clinical Pharmacology, Institute of Biomedical Sciences (ICBM), Faculty of Medicine, University of Chile, Santiago 8380453, Chile.
The transition metal characteristics of iron allow it to play a fundamental role in several essential aspects of human life such as the transport of oxygen through hemoglobin or the transport of electrons in the mitochondrial respiratory chain coupled to the synthesis of ATP. However, an excess or deficiency of iron is related to certain pathologies. The maintenance of iron homeostasis is essential to avoid certain pathologies related to iron excess or deficiency.
View Article and Find Full Text PDFMov Disord
February 2024
Eye Research Center, The Five Senses Health Institute, Iran University of Medical Sciences, Tehran, Iran.
Background: The unique neurovascular structure of the retina has provided an opportunity to observe brain pathology in many neurological disorders. However, such studies on neurodegeneration with brain iron accumulation (NBIA) disorders are lacking.
Objectives: To investigate NBIA's neurological and ophthalmological manifestations.
Cureus
October 2023
Medicine, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, IND.
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare and complex neurodegenerative disorder. It occurs due to mutations in the sequencing of the PANK2 gene. Here, we describe the case of a 22-year-old male patient who presented with severe blepharospasm; he had abnormal facial distortions, shaky limbs, rigid muscles, and a slow pace of movement, making a diagnosis tricky.
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