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Literature summary for 2.7.1.33 extracted from

  • Chan, K.Y.; Lam, C.W.; Lee, L.P.; Tong, S.F.; Yuen, Y.P.
    Pantothenate kinase-associated neurodegeneration in two Chinese children: identification of a novel PANK2 gene mutation (2008), Hong Kong Med. J., 14, 70-73.
    View publication on PubMed
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Application

Application Comment Organism
medicine pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome), the most prevalent form of neurodegeneration with brain iron accumulation, is a rare degenerative brain disease characterised by predominantly extrapyramidal dysfunction resulting from mutations in the PANK2 (pantothenate kinase 2) gene. A novel missense mutation (P354L) in exon 4 of the PANK2 gene is identified in an adolescent with classic pantothenate kinase-associated neurodegeneration. DNA-based diagnosis of pantothenate kinase-associated neurodegeneration plays a key role in determination, and can make the diagnosis more simply, directly, and economically because it obviates the need for unnecessary biochemical tests. Once pantothenate kinase-associated neurodegeneration-like symptoms are identified, mutation analysis and target screening for the family of the proband can provide efficient and accurate evidence of pantothenate kinase-associated neurodegeneration inheritance Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
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Synonyms

Synonyms Comment Organism
PanK2
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 Homo sapiens
pantothenate kinase 2
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 Homo sapiens