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

  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},
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.



Linkage of Bardet–Biedl syndrome to chromosome 16q and evidence for non–allelic genetic heterogeneity

A genome–wide search for linkage in a large inbred Bedouin family of Bardet–Biedl syndrome finds further support for linkage is found, and the utility of homozygosity mapping using inbred families is demonstrated.

Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22.

A large, inbred, Mennonite kindred which demonstrates a high incidence of Hirschsprung disease is ascertained and preliminary evidence for a genetic modifier of HSCR in this kindred on chromosome 21q22 is revealed.

Alterations in the levels of iron, ferritin and other trace metals in Parkinson's disease and other neurodegenerative diseases affecting the basal ganglia.

An increase in total iron content appears to be a response to neurodegeneration in affected basal ganglia regions in a number of movement disorders, suggesting an alteration of iron handling in the substantia nigra in PD.

Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping

This work has mapped the AVED locus to proximal 8q with only three large consanguinous Tunisian families, representing to the authors' knowledge the first use of homozygosity mapping for primary linkage analysis.

Refined mapping of the gene causing familial Mediterranean fever, by linkage and homozygosity studies.

Nine 16p markers were tested, finding that the high FMF carrier frequency increases the chance that inbred offspring could have the disease without being homozygous by descent at MEF, and several of the markers are relatively nonpolymorphic, with a high rate of homozygosity, regardless of their chromosomal location.

Hallervorden-Spatz syndrome.

• Two siblings with Hallervorden-Spatz syndrome showed striking homotypism and homochronism. Neuropathologic examination and electron microscopic studies were done; neutron activation analysis showed

Racial hygiene, active euthanasia, and Julius Hallervorden

“Hallervorden-Spatz disease” represents a distinctive and readily recognizable eponym to neurologists and pediatricians; it denotes a rare, inherited, autosomal recessive disorder, characterized by the childhood onset of unrelenting progressive gait disturbance, spasticity, and dementia associated with prominent extrapyramidal signs such as dystonia, chorea, and athetosis.

Regional distribution of iron and iron‐regulatory proteins in the brain in aging and Alzheimer's disease

It is well established that iron, which is of considerable importance for normal neurological function, is highly regulated in all organ systems. However, until recently, iron regulation in the

Transition Metals, Ferritin, Glutathione, and Ascorbic Acid in Parkinsonian Brains

Reduced glutathione and the shift of the iron (II)/iron (III) ratio in favor of iron ( III) suggest that these changes might contribute to pathophysiological processes underlying PD.

A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene.

Using the polymerase chain reaction to amplify a (TG)n microsatellite in the human cardiac actin gene, 12 different allelic fragments in 37 unrelated individuals were detected, 32 of whom were heterozygous and Codominant Mendelian inheritance of fragments was observed in three families with a total of 24 children.