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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.
Case of Hallervorden-Spatz Syndrome: A Tale of Twin Sisters.
Neurol 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 PDFAtaxic gait and dysarthria in a child: pantothenate kinase-associated neurodegeneration as a diagnosis.
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 PDFThe first Vietnamese patient who presented late onset of pantothenate kinase-associated neurodegeneration diagnosed by whole exome sequencing: A case report.
Medicine (Baltimore)
October 2023
Institute of Genome Research, Vietnam Academy of Science and Technology, Hanoi, Vietnam.
Rationale: Pantothenate kinase-associated neurodegeneration (PKAN), also called Hallervorden-Spatz syndrome, is a rare autosomal recessive disease associated with brain iron accumulation and characterized by progressive dystonia, dementia, and dysarthria symptoms. PKAN, caused by a defective pantothenate kinase 2 (PANK2) gene, is the most common neurodegeneration with a brain iron accumulation (NBIA) group. The "eye of the tiger" sign in the magnetic resonance imaging demonstrated a bilateral hyperintense signal in the basal ganglia region on T2-weighted images, which is a characteristic feature of the diagnosis.
View Article and Find Full Text PDFPatient and caregiver experiences with pantothenate kinase-associated neurodegeneration (PKAN): results from a patient community survey.
Orphanet J Rare Dis
August 2023
CoA Therapeutics, 1800 Owens Street, Suite C-1200, San Francisco, CA, 94158, USA.
Background: Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive genetic disorder of PANK2, which enables mitochondrial synthesis of coenzyme A. Its loss causes neurodegeneration with iron accumulation primarily in motor-related brain areas. Symptoms include dystonia, parkinsonism, and other disabilities.
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