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.

The fine structure of the intramitochondrial crystalloids in mitochondrial myopathy.

The fine structure of the intramitochondrial crystalloids found in mitochondrial myopathies was investigated using high angle tilting of ultrathin sections and freeze fracture replicas. Observations show the crystalloids to be composed of 8 nm granules in a unique array. Analysis of the arrangement seen in three mutually perpendicular planes has permitted a model of the crystalloid and its relationship to the mitochondrial membranes to be proposed.

Tomaculous neuropathy: hereditary predisposition to pressure palsies.

A family is described in which six members in three generations have been affected by a remittent and pressure-sensitive mononeuritis or mononeuritis multiplex. In addition, nerve conduction studies have demonstrated the presence of peripheral neuropathy in clinically unaffected as well as affected family members, thus providing evidence of an autosomal dominant inheritance pattern. A sural nerve biopsy from one of of an autosomal dominant inheritance pattern.

Ataxia-without-telangiectasia. Progressive multisystem degeneration with IgE deficiency and chromosomal instability.

Three of five siblings developed a progressive neurological disorder during infancy or early childhood characterized by cerebellar ataxia, choreoathetosis and peripheral neuropathy. Immunological studies revealed a marked selective deficiency of serum IgE in all three affected siblings. There was evidence of chromosomal instability in the three affected siblings and in one of the parents.

Clinical features of mitochondrial myopathy.

Five patients with mitochondrial myopathy are discussed. Two presented with progressive external ophthalmoplegia (CPEO), one with CPEO and retinitis pigmentosa, and two with Kearns-Sayre syndrome. Ragged red fibres and intra-mitochondrial paracrystalline inclusions were found in each case.

Diffuse infiltrating astrocytoma (gliomatosis cerebri) with twenty-two-year history.

The case is described of a man, aged 46 at his time of death, who suffered from focal motor, adversive and generalised seizures for 22 years. He developed a progressive dementia over the last 2 years of his life. Investigation, including angiography and air encephalography early in the course of the illness and repeated CT head scans later, failed to demonstrate any neoplasm.

Central core disease. Study of a family with five affected generations.

A family is described in which at least 37 members in five generations living in Australia have suffered from a rare congenital myopathy--central core disease (CCD). Histochemical and ultrastructural features typical of CCD were present on muscle biopsy. Although there are variations in clinical expression, a relatively benign and nonprogressive course is usual.

Cerebral malakoplakia.

A case of cerebral malakoplakia is described in an 18-year-old woman who died as the consequence of a postpartum stroke. The malakoplakic lesion occurred in areas of cerebral infarction. The features of this unique case are compared with the small number of previously reported cases of cerebral malakoplakia which occurred in much younger patients and against a background of herpes simplex infection.

Antiopyrine half-life as a measure of hepatic enzyme induction: clinical applications in a chronic epileptic population.

Quantitation of hepatic microsomal enzyme induction in epilepsy has a theoretical role in identifying patients at risk of metabolic bone disease, in assessing drug compliance and in predicting anticonvulsant dose/serum level relationships. The clinical usefulness of antipyrine half-life as a measure of enzyme induction in chronic epilepsy has been explored in this study. Mean antipyrine half-life in a control group (mean 10.

Superior orbital fissure syndrome. Some clinical and radiological observations.

A patient is described with features of a superior orbital fissure (Tolosa Hunt) syndrome and a coexistent intraorbital lesion. There was radiological evidence both of narrowing of the carotid artery and of an intraorbital obstruction of venous return from the orbit. The diagnostic value of orbital venography and carotid angiography in the investigation of granulomata in the region of the orbit is stressed.