Hallervorden-Spatz disease

(redirected from Pantothenate kinase-associated neurodegeneration)
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Hal·ler·vor·den-Spatz syn·drome

(hah'lĕr-fōr-dĕn shpahts),
a disorder characterized by dystonia with other extrapyramidal dysfunctions appearing in the first two decades of life; associated with large amounts of iron in the globus pallidus and substantia nigra.

Hallervorden-Spatz disease

A slowly progressive condition which is now grouped with the so-called neurodegeneration with brain iron accumulation syndromes and characterised by progressive degeneration of neural function with loss of ambulation up to 15 years after disease onset.

Molecular pathology
Mutation of PANK2 on chromosome 20p13, which encodes a protein belonging to the pantotheate kinase family, which catalyses the 1st step in the biosynthetic pathway leading to CoA production.

Hallervorden-Spatz disease

, H.-S. syndrome (hal'ar-vor?den-spats')
[Julius Hallervorden, 1882–1965; H. Spatz, 1888–1969, Ger. neurologists]
An inherited or sporadically appearing neurological disease, beginning in childhood, affecting the globus pallidus, red nucleus, and reticular part of the substantia nigra of the brain. Clinical characteristics include progressive rigidity, retinal degeneration, athetotic movements, and mental and, late in the disease, emotional retardation. There is no effective therapy.
Synonym: neurodegeneration with brain iron accumulation


Julius, German neurologist, 1882-1965.
Hallervorden syndrome - Synonym(s): Hallervorden-Spatz syndrome
Hallervorden-Spatz disease - Synonym(s): Hallervorden-Spatz syndrome
Hallervorden-Spatz syndrome - a disorder characterized by dystonia with other extrapyramidal dysfunctions. Synonym(s): Hallervorden-Spatz disease; Hallervorden syndrome; status dysmyelinisatus


Hugo, German neurologist and psychiatrist, 1888-1969.
Hallervorden-Spatz disease - Synonym(s): Hallervorden-Spatz syndrome
Hallervorden-Spatz syndrome - see under Hallervorden
References in periodicals archive ?
Lee, "Anticholinergic-responsive gait freezing in a patient with pantothenate kinase-associated neurodegeneration, " Movement Disorders, vol.
Lee-Chen, "Pantothenate kinase-associated neurodegeneration in two Taiwanese siblings: identification of a novel PANK2 gene mutation, " Movement Disorders, vol.
Eye-of-the-Tiger sign is not pathognomonic of pantothenate kinase-associated neurodegeneration in adult cases.
Pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome).
Retrophin, a fully-integrated biopharmaceutical company, has received orphan drug designation from the European Commission for RE-024, the company's novel investigational phosphopantothenate replacement therapy for pantothenate kinase-associated neurodegeneration (PKAN), it was reported yesterday.
The company added RE-024 is being developed for the treatment of pantothenate kinase-associated neurodegeneration (PKAN), a rare and lethal autosomal recessive neurodegenerative disorder believed to affect approximately one to three persons per million worldwide, with no approved treatment currently available.