Management No specific treatment is known. Antiviral agents have been ineffective. In view of the transmissibility of the disease from humans to primates and iatrogenically from person to person with infected materials, certain precautions should be taken in the medical care and handling of materials from affected patients. Special isolation rooms are unnecessary, and the families of affected patients and nursing staff can be reassured that casual contact poses no risk. Needle punctures and cuts are not thought to pose a risk, but some uncertainty remains. The transmissible agent is resistant to boiling, treatment with formalin and alcohol, and ultraviolet radiation but can be inactivated by autoclaving at 132°C (269.6°F) at 15 lb/in2 for 1 h or by immersion for 1 h in 5 percent sodium hypochlorite (bleach). Workers exposed to infected materials (butchers, abattoir workers, healthcare workers) should wash thoroughly with ordinary soap. Needles, glassware, needle electrodes, and other instruments should be handled with great care and immersed in appropriate disinfectants and autoclaved or incinerated. The performance of a brain biopsy or autopsy requires that a set of special precautions be followed, as outlined by Brown but this surgical procedure is not necessary as more diagnostic tools have become available. Obviously such patients or any others known to have been demented should not be donors of organs or corneas for transplantation or blood for transfusion.
This is a rare, strongly familial disease inherited as an autosomal dominant trait. It begins insidiously in midlife and runs a chronic course (mean duration 5 years). The main characteristics are progressive cerebellar ataxia, corticospinal tract signs, dysarthria, and nystagmus. Dementia is often associated but is relatively mild.
Dysesthesias and proximal weakness of the legs have been emphasized as an early feature by Arata and colleagues. Their report may be consulted for details of 11 well-studied cases. The MRI is usually normal; with progression, generalized atrophy is found.
There are characteristic spongiform changes in brain tissue, as in CJD. Brain tissue from patients with this disease, when inoculated into chimpanzees, has produced a spongiform encephalopathy (Masters et al, 1981). Molecular genetic studies of affected family members demonstrate a mutation of the prion protein gene. This syndrome should be considered as a small familial subset of SSE, of slowly progressive type.
This is another rare and usually familial disease in the spongiform encephalopathy group. It is characterized by intractable insomnia, sympathetic overactivity, and dementia, leading to death in 7 to 15 months (see also Chap. 18). The pathologic changes, consisting of neuronal loss and gliosis, are found mainly in the medial thalamic nuclei. Studies of a few families have shown a mutation of the prion protein gene and brain material was found to contain a protease-resistant form of the gene that is characterized by a mutation in the prion gene at codon 178 in conjunction with the presence of methionine at codon 129 on chromosome 20, the latter being a feature of sporadic CJD. Transmission of the disease by inoculation of infected brain material has not been accomplished (Medori et al). There is also a rare sporadic form of this disease and the configuration of the prion alteration is different from the familial variety.