Hallervorden-Spatz disease

A genetic disorder in which there is progressive neurologic degeneration with the accumulation of iron in the brain. The gene for the disease is on chromosome 20 in region 20p13-p12.3. The syndrome was first described by Julius Hallervorden and Hugo Spatz in 1922 in 5 sisters who showed increasing dysarthria (trouble speaking) and progressive dementia and, at autopsy, brown discoloration of specific parts of the brain (the globus pallidus and substantia nigra). The disease is characterized by progressive rigidity, first in the lower and later in the upper extremities. Involuntary movements of choreic or athetoid type may precede or accompany the rigidity. Both involuntary movements and rigidity may involve muscles supplied by cranial nerves, resulting in difficulties in articulation and swallowing. This disorder affects the muscular tone and voluntary movements progressively, making coordinated movements and chewing and swallowing almost impossible. Mental deterioration, emaciation, severe feeding difficulties, and visual impairment occur commonly in the late stages of the disease. The disease has its onset in the first or second decade of life. The average survival time after the diagnosis is made 11 years. Death usually occurs before the age of 30 years. The diagnosis of Hallervorden-Spatz disease has usually been made postmortem. However, magnetic resonance imaging (MRI) alterations in the basal ganglia of the brain now permit diagnosis during life in someone who has an affected sibling and is therefore at high (25%) risk for the disease. Hallervorden whose name is associated with this disease made important contributions to neurology. However, his active involvement in euthanasia in Germany during World War II raises serious questions about the moral obligations of medical science. No euthanasia law was ever enacted in the Third Reich. Rather, physicians were empowered to carry out 'mercy killings' but were never obliged to do so. There was never a direct order to participate, and refusal to cooperate did not result in legal action or professional setback. Active opponents were many and included such prominent physicians as Creutzfeldt, another neuropathologist for whom Creutzfeldt-Jakob disease is named. Hallervorden's enthusiastically encouraged the killings and the other aspects that led to dehumanization of both the victims and the participants. Some believe that Hallervorden's name be removed from this disorder. It has suggested that the disease might be called "Martha-Alma disease" for the 2 unfortunate sisters whose brains were first dissected in the original description of the disease by Hallervorden and Spatz. Other names for this disorder include neurodegeneration with brain iron accumulation 1 (NBIA1) and late infantile neuroaxonal dystrophy.

* * *

a hereditary disorder characterized by marked reduction in the number of myelin sheaths of the globus pallidus and substantia nigra, with accumulations of iron pigment, progressive rigidity beginning in the legs, choreoathetoid movements, dysarthria, and progressive mental deterioration. Transmitted as an autosomal recessive trait, it usually begins in the first or second decade, with death occurring before age 30.