A 60-year-old woman with a typical history of fatal familial insomnia (FFI) had FFI proven by histologic examination and molecular testing. Her son, who died at the age of 20 in 1978, had a rapidly progressive dementing illness without reported insomnia. He carried the characteristic mutation for FFI and is the youngest patient reported with this condition.
The language profile of a group of 18 Alzheimer patients is documented and their performance on a standard aphasia test battery compared to a group of institutionalized, nonneurologically impaired control subjects matched for age, sex, and educational level. The Alzheimer patients scored significantly lower than the controls in the areas of verbal… (More)
Rasmussen's syndrome, a syndrome of chronic focal encephalitis, is usually considered to be a disease of childhood. Typical features include intractable focal seizures and progressive unilateral neurological deficits with radiological evidence of focal cortical atrophy. This report documents the case of the oldest patient yet described in the literature… (More)
Lesioning of the internal pallidum is known to improve the symptoms of idiopathic Parkinson's disease (PD) and alleviate dyskinesia and motor fluctuations related to levodopa therapy. The benefit obtained contralateral to a single lesion is insufficient in some cases when symptoms are bilaterally disabling. However, reports of unacceptably high rates of… (More)
The advent of deep brain stimulation (DBS) has been an important advance in the treatment of Parkinson's disease (PD). DBS may be employed in the management of medication-refractory tremor or treatment-related motor complications, and may benefit between 4.5% and 20% of patients at some stage of their disease course. In Australia, patients with PD are… (More)
Motor and non-motor fluctuations are well known sequelae of dopaminergic therapies for Parkinson's disease (PD), particularly during the advanced stages. However, the prevalence of fluctuations early in the treatment course has been less well recognised and may be missed clinically if not specifically probed. We examined the used of a survey for this… (More)
Idiopathic-isolated focal dystonia (IIFD) is a movement disorder characterised by involuntary, sustained muscle contractions, leading to abnormal postures. Psychopathology is frequent in patients with IIFD, and while traditionally this was thought to be a secondary phenomenon, there is emerging evidence for shared neurobiological mechanisms. We conducted a… (More)
It is currently hypothesised that a combination of genetic and environmental factors underlies the development of idiopathic isolated dystonia (IID). In this study, we examined several possible environmental or other non-genetic factors that may influence the risk for IID in Queensland, Australia. We surveyed several environmental exposures, lifestyle… (More)