Richard Burns

Identical twins with Alzheimer's disease.

Genetically proven identical twin sisters with Alzheimers disease are reported. Both sisters at the age of fifty years developed a dementing illness. Their mother and maternal grandmother developed at the same age a similar illness. It is suggested that in some cases of familial Alzheimers disease the condition is inherited by a single mutant gene.

An unusual cause of hemifacial spasm

Hemifacial spasm (HFS) is a movement disorder characterized by involuntary paroxysmal chronic contractions of the facial musculature. The usual cause is vascular compression of the seventh cranial nerve, at its exit zone from the brain stem. We report a case of left hemifacial spasm, in a 66-year-old woman, in which the neuroradiological investigation with magnetic resonance imaging showed a hypervascular soft tissue mass arising from the left skull base, in the jugular foramen. This lesion was thought highly likely to be a glomus jugulare tumour. While the usual occurrence of tumour compression causing HFS has been previously recognized, the association of glomus jugulare tumours presenting with HFS has not. The importance of this association is discussed. Copyright 1999 Harcourt Publishers Ltd.

Central pontine myelinolysis.

Central pontine myelinolysis (CPM) was initially associated with alcoholism. Subsequently other factors, including rapid reversal of hyponatraemia and extreme serum hypoosmolality associated with severe burns, have been identified as other important factors in its pathogenesis. Extra-pontine lesions have also been described. CPM may be found at autopsy, either having been overlooked during life or as an incidental finding. Its precise incidence is not known but the ability to diagnose it during life has been helped by modern neuroimaging, particularly magnetic resonance imaging (MRI) of the brain stem. In the past the prognosis for CPM was thought to be invariably fatal. It is clear now that with the greater general awareness of the disorder and the ability to diagnose it during life that some degree of recovery is possible. However, the number who do recover and the degree of recovery is not known. We report a 40-year-old man who developed CPM presenting with quadriparesis and inability to speak and swallow. There were risk factors for CPM and the diagnosis was confirmed by MRI scanning. He made a complete recovery although he remains ataxic. We are reporting this case as we believe it is important to make clinicians aware of the potential for recovery of CPM. While no specific treatment has been shown to influence the degree and rate of recovery of the demyelination, the fact that the quadriplegia and bulbar paralysis can recover fully is of considerable importance. In particular, it means that when the diagnosis is made, complete and vigorous nursing and medical care is warranted.

Controlled release levodopa/carbidopa (Sinemet CR4) in Parkinson's disease – an open evaluation of efficacy and safety

Abstract Twenty patients with moderately severe Parkinsons disease entered an open study of the efficacy and safety of a slow release preparation containing levodopa 200mg and carbidopa 50mg per tablet (‘Sinemet CR4’). Following an initial four week baseline stabilisation period on conventional ‘Sinemet’ tablets, the patients were transferred to ‘Sinemet CR4’ and observed at intervals over the next 12 months. Fifteen patients completed the full year observation period. When compared with the baseline period, treatment with ‘Sinemet CR4’ was associated with longer periods of functional improvement and less fluctuation of response following each dose. The median (range) dose frequency was reduced from three (three‐12) to two (two‐seven) times daily (p< 0.001) on ‘Sinemet CR4’ although median (range) total daily dose of levodopa was increased from 700 (375–2525) to 800 (400–2800) mg without any increase in adverse effects. Three patients developed peripheral neuropathy while receiving Sinemet CR4, but the association with this therapy is unclear. Overall ‘Sinemet CR4’ allowed a longer dosage interval and provided more stable control of disease manifestations than conventional ‘Sinemet’. (Aust NZ J Med 1991; 21: 397–400.)