A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome

@article{Zhou2001ANP,
  title={A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome},
  author={Bing Zhou and Shawn K. Westaway and Barbara Levinson and Monique A. Johnson and Jane Gitschier and Susan J. Hayflick},
  journal={Nature Genetics},
  year={2001},
  volume={28},
  pages={345-349}
}
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… 

Pantothenate kinase–associated neurodegeneration

  • M. Kruer
  • Biology
    Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease
  • 2020

A Novel Nonsense Mutation in PANK2 Gene in Two Patients with Pantothenate Kinase-Associated Neurodegeneration

Two cases of classic PKAN syndrome with early onset of neurodegenerative disorder are reported and it is revealed that both are homozygous for a novel nonsense mutation in PANK2 gene.

Pantothenate Rescues Iron Accumulation in Pantothenate Kinase-Associated Neurodegeneration Depending on the Type of Mutation

It is described that fibroblasts derived from patients harbouring PANK2 mutations can reproduce many of the cellular pathological alterations found in the disease, such as intracellular iron and lipofuscin accumulation, increased oxidative stress, and mitochondrial dysfunction.

Novel PANK2 gene mutations in two Chinese siblings with atypical pantothenate kinase-associated neurodegeneration

The clinical heterogeneity even in siblings with identical genotype is verified and the gene mutation pool for PKAN is expanded to include novel compound heterozygous mutations in PANK2 gene, which were confirmed to be deleterious.

Pantothenate kinase-associated neurodegeneration.

Clinical presentation, neuropathology and pathogenesis of PKAN are summarized, and studies in the PANK Drosophila model "fumble" revealed improvement by the compound pantethine which is hypothesized to feed an alternate CoA biosynthesis pathway.

Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia.

A mouse knock-out of the orthologous murine gene (Pank2) is generated to enhance the understanding of the mechanisms of disease and to serve as a testing ground for therapies.

Novel PANK2 gene mutations in two Chinese siblings with atypical pantothenate kinase-associated neurodegeneration

The clinical heterogeneity even in siblings with identical genotype is verified and the gene mutation pool for PKAN is expanded to include novel compound heterozygous mutations (IVS1- 2A (T, c.T1130C) in PANK2 gene, which were confirmed to be deleterious.
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References

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In order to gain insight into normal and abnormal brain iron transport, metabolism and function, the approach was to map the gene for HSS, which was confirmed in nine additional families of diverse ethnic backgrounds.

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