| 释义 |
DictionarySeediseaseHallervorden-Spatz disease
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. Synonym(s): Hallervorden syndrome, Hallervorden-Spatz disease, status dysmyelinisatusHallervorden-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 accumulationHallervorden, Julius, German neurologist, 1882-1965. Hallervorden syndrome - Synonym(s): Hallervorden-Spatz syndromeHallervorden-Spatz disease - Synonym(s): Hallervorden-Spatz syndromeHallervorden-Spatz syndrome - a disorder characterized by dystonia with other extrapyramidal dysfunctions. Synonym(s): Hallervorden-Spatz disease; Hallervorden syndrome; status dysmyelinisatus
Spatz, Hugo, German neurologist and psychiatrist, 1888-1969. Hallervorden-Spatz disease - Synonym(s): Hallervorden-Spatz syndromeHallervorden-Spatz syndrome - see under Hallervorden |