Definition A slowly progressive neurological disorder (OMIM:234200) characterised by dystonia and extrapyramidal dysfunction in the first 2 decades of life. It is grouped with other so-called neurodegeneration with brain iron accumulation syndromes* and characterised by progressive degeneration of neurological function with loss of ambulation up to 15 years after disease onset.
*HARP syndrome, neurodegeneration with brain iron accumulation 1.
Clinical findings Progressive neurologic degeneration with defects in muscle tone–rigidity, choreoathetosis, torsion spasm–dystonia, parkinsonism, cerebellar ataxia, speech impairment, mental deterioration, generalised rigidity
Comment Word is afoot that this condition should no longer bear the name Hallervorden: Julius Hallervorden admitted that 697 brains he investigated during the Nazi period were from victims of euthanasia, he was allegedly present at the killing of more than 60 children and adolescents in the Brandenburg Psychiatric Institution on 28.10.1940, and allegedly removed brain material himself from euthanasia victims in a nearby extermination (euthanasia) centre.
Imaging Cerebral atrophy
Pathology Accumulation of abundant ferruginous pigment in globus pallidum and pars reticulata of substantia nigra; loss of nerve cell fibers, focal axonal swelling.
Molecular pathology Mutation of PANK2, which encodes a protein that catalyses the 1st step in the biosynthetic pathway leading to CoA, cause neurodegeneration with brain iron accumulation (Hallervorden-Spatz syndrome).
Synonyms Neuroaxonal dystrophy type I, globus pallidus pigmentary degeneration, Hallervorden-Spatz disease, late infantile neuroaxonal dystrophy, neurodegeneration with brain iron accumulation-1 (the preferred name for this condition), pantothenate kinase-associated neurodegeneration, p pigmentary degeneration syndrome of globus pallidus, PKAN, PKAN neuroaxonal dystrophy–juvenile onset type