Familial neuronal intranuclear inclusion disease with ubiquitin positive inclusions.

Female monozygotic twins developed upper and lower limb neurogenic weakness in their thirties, followed by cerebellar ataxia, dysarthria and death after an illness duration of about 20 years. Autopsy revealed pathological features typical of neuronal intranuclear inclusion disease (NIID) and positive ubiquitin immunostaining of the inclusions. Two adult sons of one of the twins have now developed an identical illness.

Epidemiology of multiple sclerosis in Australia. With NSW and SA survey results.

Objectives: (i) To determine the prevalence of multiple sclerosis (MS) in New South Wales and South Australia; (ii) to compare these prevalences with those in other areas of Australia and to determine the relationship between prevalence and latitude; (iii) to examine the relative contribution of genetic and environmental factors in the aetiology of the disease in Australia; and (iv) to ascertain whether there had been a change in the frequency of the disease since 1961.

Results: The crude prevalence of MS in New South Wales on prevalence day (National Census Day, 30 June 1981) was 37.2/100,000 and the age-standardised prevalence 36.

Multiple sclerosis--making the diagnosis.

Although intensive research into all aspects of MS in the past 50 years has led to a great deal of information about pathological processes that may relate to its causation and expression, the disease is still an enigma--one of the greatest unsolved problems in medicine. Recent advances in neuroimaging and the ability to measure conduction in CNS pathways (evoked potentials) reveal subclinical effects, complementing clinical examination and frequently enabling a firm diagnosis in earlier phases of the disease than hitherto. In some situations earlier conclusive diagnosis facilitates management.

Kohlmeier-Degos disease: a multisystem vasculopathy with progressive cerebral infarction.

Kohlmeier-Degos disease, or malignant atrophic papulosis, is a rare and clinically distinctive vasculopathy characterised by cutaneous features with frequent gastrointestinal and neurological involvement and, almost invariably, with fatal outcome. The case is reported of a 22-year-old male who died of progressive cerebral infarction nine months from the time of development of pathognomonic skin lesions. Treatments with anti-platelet agents and plasma exchange were ineffectual in altering the progressive course of the disease.

The contribution of mortality statistics to the study of multiple sclerosis in Australia.

Mortality statistics provided a valuable source of support for data obtained from prevalence surveys of multiple sclerosis in Australia. Firstly, multiple sclerosis mortality data for the decade 1971-80 in the States of Australia confirmed the relationship between increasing disease frequency and increasing south latitude shown by State and regional point prevalence surveys based on the national census day 30 June 1981. Secondly, a comparison with mortality data from the decade 1950-59 showed that in most States there had been a substantial fall in multiple sclerosis mortality in the more recent decade and this was clearly an important contributing factor to the rise in prevalence noted between the morbidity surveys of 1961 and 1981.