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- W1502917522 abstract "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. Mutations in the PANK2 gene account for the majority of NBIA cases and cause an autosomal recessive inborn error of coenzyme A metabolism called pantothenate kinase-associated neurodegeneration (PKAN). PKAN is characterized by dystonia and pigmentary retinopathy in children or speech and neuropsychiatric disorders in adults. In addition, a specific pattern on brain MRI, called the eye-of-the-tiger sign, is virtually pathognomonic for the disease. Pantothenate kinase is essential to coenzyme A biosynthesis, and the PANK2 protein is targeted to the mitochondria. Hypotheses of PKAN pathogenesis are based on the predictions of tissue-specific coenzyme A deficiency and the accumulation of cysteine-containing substrates. Identification of the major NBIA gene has led to more accurate clinical delineation of the diseases that comprise this group, a molecular diagnostic test for PKAN, and hypotheses for treatment." @default.
- W1502917522 created "2016-06-24" @default.
- W1502917522 creator A5065636582 @default.
- W1502917522 creator A5066801518 @default.
- W1502917522 date "2018-01-01" @default.
- W1502917522 modified "2023-10-14" @default.
- W1502917522 title "Neurodegeneration with brain iron accumulation" @default.
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- W1502917522 doi "https://doi.org/10.1016/b978-0-444-63233-3.00019-1" @default.
- W1502917522 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8235601" @default.
- W1502917522 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/29325618" @default.
- W1502917522 hasPublicationYear "2018" @default.
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