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pantothenate kinase-associated neurodegeneration/l cysteina
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Hallervorden-Spatz disease: cysteine accumulation and cysteine dioxygenase deficiency in the globus pallidus.
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We describe neurochemical abnormalities found in the brains of 2 patients with autopsy-confirmed Hallervorden-Spatz (HS) disease. In 1 patient, contents of cystine and of glutathione-cysteine mixed disulfide in the globus pallidus were markedly elevated above values for appropriate control subjects.
Pantothenate kinase-associated neurodegeneration (Hallervorden-Spatz syndrome).
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The arguments over the nomenclature of the syndrome are reviewed. Ethical considerations favour replacing the present eponyms with the title of panthothenate kinase-associated neurodegeneration (PKAN), now that more is known about the cause of the condition. The symptoms and signs of the syndrome
Identification of axonal involvement in Hallervorden-Spatz disease with magnetic resonance spectroscopy.
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Hallervorden-Spatz disease is a neurodegenerative disorder associated with cysteine-iron complex accumulation typically seen as bilateral symmetrical hypointense signal changes in the medial globus pallidus on magnetic resonance imaging. We used magnetic resonance spectroscopy to identify and
Acanthocytosis and the c.680 A>G Mutation in the PANK2 Gene: A Study Enrolling a Cohort of PKAN Patients from the Dominican Republic.
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Pantothenate Kinase-Associated Neurodegeneration (PKAN) is a form of Neurodegeneration with Brain Iron Accumulation (NBIA) associated with mutations in the pantothenate kinase 2 gene (PANK2). Pantothenate kinases catalyze the rate-limiting step of coenzyme A synthesis and Pank2 is the only
Unraveling the Hallervorden-Spatz syndrome: pantothenate kinase-associated neurodegeneration is the name.
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OBJECTIVE
After the recent discovery of the major genetic defect in neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome), this heterogeneous group of disorders can now be differentiated by clinical, radiographic, and molecular features.
RESULTS
Disease caused
hGFRalpha-4: a new member of the GDNF receptor family and a candidate for NBIA.
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Hallervorden-Spatz syndrome (neurodegeneration with brain iron accumulation type 1; OMIM entry 234200) is a rare inherited neurodegenerative disease. In this article, evidence for a newly identified gene as a candidate for Hallervorden-Spatz syndrome is given. Previously Hallervorden-Spatz syndrome
Autopsy always teach and tell: neurodegeneration with brain iron accumulation: a case report.
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Neurodegeneration with brain iron accumulation (NBIA), or Hallervorden- Spatz disease, is an extremely rare autosomal recessive disorder with cysteine-iron complex accumulation in globus pallidus, seen histopathologically. Magnetic resonance imaging offers an opportunity for diagnosis; however,
Case report: MR spectroscopy in pantothenate kinase-2 associated neurodegeneration.
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We report a case of a 13-year-old girl with Hallervorden-Spatz disease (HSD) or pantothenate kinase-2 associated neurodegeneration (PKAN). HSD is a rare neurodegenerative disorder, which is characterized by a rapidly progressive extrapyramidal syndrome, dementia with optic atrophy, and retinal
Neurodegeneration with brain iron accumulation.
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Neurodegeneration with brain iron accumulation (NBIA) describes a group of progressive extrapyramidal disorders with radiographic evidence of focal iron accumulation in the brain, usually in the basal ganglia. Patients previously diagnosed with Hallervorden-Spatz syndrome fall into this category.
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