Homozygosity mapping of Hallervorden–Spatz syndrome to chromosome 20p12.3–p13

@article{Taylor1996HomozygosityMO,
  title={Homozygosity mapping of Hallervorden–Spatz syndrome to chromosome 20p12.3–p13},
  author={Todd D. Taylor and M. Litt and Patricia Kramer and Massimo Pandolfo and Lucia Angelini and Nardo Nardocci and Suzanne Davis and Mercedes Pineda and Haruo Hattori and Peter Flett and Maria Roberta Cilio and Enrico Bertini and Susan J. Hayflick},
  journal={Nature Genetics},
  year={1996},
  volume={14},
  pages={479-481}
}
Hallervorden-Spatz syndrome (HSS) (OMIM #234200) is a rare, autosomal recessive neurodegenerative disorder with brain iron accumulation as a prominent finding. Clinical features include extrapyramidal dysfunction, onset in childhood, and a relentlessly progressive course1. Histologic study reveals massive iron deposits in the basal ganglia. Systemic and cerebrospinal fluid iron levels are normal, as are plasma levels of ferritin, transferrin and ceruloplasmin. Conversely, in disorders of… 

Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden‐Spatz syndrome) and pantothenate kinase‐associated neurodegeneration

The phenotypic heterogeneity observed in patients supports the notion of genetic heterogeneity in the HSS/NBIA syndrome and compares the clinical features and MRI findings of those with and without PANK2 mutations.

Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease

A previously unknown, dominantly inherited, late-onset basal ganglia disease, variably presenting with extrapyramidal features similar to those of Huntington's disease or parkinsonism is described, for which the name 'neuroferritinopathy' is proposed.

Neurodegeneration with brain iron accumulation.

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

It is shown that HSS is caused by a defect in a novel pantothenate kinase gene and a mechanism for oxidative stress in the pathophysiology of the disease is proposed.

Unraveling the Hallervorden-Spatz syndrome: pantothenate kinase–associated neurodegeneration is the name . . .

Purpose of review After the recent discovery of the major genetic defect in neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome), this heterogeneous group of

Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum

A Jordanian Arab family where two sibs developed the classical clinical and radiological features of pantothenate kinase associated neurodegeneration but in addition had an early onset cerebellar ataxia is reported, hypothesising that the disorder, Karak syndrome, is novel and a member of the growing family of neurological diseases involving excess cerebral iron accumulation.

Two Members of a Family with Hallervorden Spatz Disease

Sometimes the pallidal hypointense signals surround hyperintense signals which is known as "tiger-eye-sign" and is believed to be specific for Hallervorden Spatz Disease.
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