A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome
- PMID: 11479594
- DOI: 10.1038/ng572
A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome
Abstract
Hallervorden-Spatz syndrome (HSS) is an autosomal recessive neurodegenerative disorder associated with iron accumulation in the brain. Clinical features include extrapyramidal dysfunction, onset in childhood, and a relentlessly progressive course. Histologic study reveals iron deposits in the basal ganglia. In this respect, HSS may serve as a model for complex neurodegenerative diseases, such as Parkinson disease, Alzheimer disease, Huntington disease and human immunodeficiency virus (HIV) encephalopathy, in which pathologic accumulation of iron in the brain is also observed. Thus, understanding the biochemical defect in HSS may provide key insights into the regulation of iron metabolism and its perturbation in this and other neurodegenerative diseases. Here we show that HSS is caused by a defect in a novel pantothenate kinase gene and propose a mechanism for oxidative stress in the pathophysiology of the disease.
Comment in
-
Iron on the brain.Nat Genet. 2001 Aug;28(4):299-300. doi: 10.1038/91036. Nat Genet. 2001. PMID: 11479580
Similar articles
-
Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden-Spatz syndrome) and pantothenate kinase-associated neurodegeneration.Mov Disord. 2004 Jan;19(1):36-42. doi: 10.1002/mds.10650. Mov Disord. 2004. PMID: 14743358
-
Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13.Nat Genet. 1996 Dec;14(4):479-81. doi: 10.1038/ng1296-479. Nat Genet. 1996. PMID: 8944032
-
Novel mutation in the PANK2 gene leads to pantothenate kinase-associated neurodegeneration in a Pakistani family.Pediatr Neurol. 2007 Oct;37(4):296-8. doi: 10.1016/j.pediatrneurol.2007.05.015. Pediatr Neurol. 2007. PMID: 17903678
-
Unraveling the Hallervorden-Spatz syndrome: pantothenate kinase-associated neurodegeneration is the name.Curr Opin Pediatr. 2003 Dec;15(6):572-7. doi: 10.1097/00008480-200312000-00005. Curr Opin Pediatr. 2003. PMID: 14631201 Review.
-
Neurodegeneration with brain iron accumulation: A cautionary tale.Eur Neurol. 2006;56(1):66-8. doi: 10.1159/000095149. Eur Neurol. 2006. PMID: 16921248 Review.
Cited by
-
[Research advances in the pathogenesis and treatment of neurodegeneration with brain iron accumulation].Zhongguo Dang Dai Er Ke Za Zhi. 2021 Jun;23(6):650-656. doi: 10.7499/j.issn.1008-8830.2103149. Zhongguo Dang Dai Er Ke Za Zhi. 2021. PMID: 34130790 Free PMC article. Chinese.
-
Pantothenate kinase 2 interacts with PINK1 to regulate mitochondrial quality control via acetyl-CoA metabolism.Nat Commun. 2022 May 3;13(1):2412. doi: 10.1038/s41467-022-30178-x. Nat Commun. 2022. PMID: 35504872 Free PMC article.
-
PI3K drives the de novo synthesis of coenzyme A from vitamin B5.Nature. 2022 Aug;608(7921):192-198. doi: 10.1038/s41586-022-04984-8. Epub 2022 Jul 27. Nature. 2022. PMID: 35896750 Free PMC article.
-
Basal ganglia calcification and novel compound heterozygous mutations in the PANK2 gene in a Chinese boy with classic Pantothenate kinase-associated neurodegeneration: A case report.Medicine (Baltimore). 2018 Apr;97(15):e0316. doi: 10.1097/MD.0000000000010316. Medicine (Baltimore). 2018. PMID: 29642163 Free PMC article.
-
Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity.BMC Med Genet. 2013 Nov 11;14:118. doi: 10.1186/1471-2350-14-118. BMC Med Genet. 2013. PMID: 24215330 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical
Molecular Biology Databases
Research Materials
