Richard S Boyle

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Two patients had a steadily progressive disorder of higher cortical function dominated by the early development of cortical visual deficits. In one, a right visual inattention progressed over a period of 2 years to a complete right homonymous hemianopia and relative left inferior quadrantanopia. In the second case, blind in the left eye for unrelated(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)
Familial periodic cerebellar ataxia (FPCA) is a heterogeneous group of rare autosomal dominant disorders characterized by episodic cerebellar disturbance. A potassium-channel gene (KCNA1) has been found to be responsible for one of its subgroups, familial periodic cerebellar ataxia with myokymia (FPCA/+M; MIM 160120). A different subgroup that is not(More)
Recent whole genome association studies provided little evidence that polymorphisms at the familial Parkinsonism loci influence the risk for Parkinson's disease (PD). However, these studies are not designed to detect the types of subtle effects that common variants may impose. Here, we use an alternative targeted candidate gene approach to examine common(More)
A 24 year old woman presented with generalised livedo reticularis and progressive intellectual decline. A CT scan of her head showed multifocal low density areas, consistent with cerebral infarction. Cerebral angiography revealed occlusive disease of major vessels, an arteriovenous malformation, and moya-moya type anastomoses. There was no other associated(More)
The study of family history in Parkinson's disease (PD) has resulted in considerable debate over the role of genetic factors in the development of PD. Despite this, family history is consistently identified as an independent risk factor for PD. A multifactorial disease process in which genetic, environmental and lifestyle factors culminate in overall risk(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)
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.
Genes involved in familial dystonia syndromes (DYT genes) are ideal candidates for investigating whether common genetic variants influence the susceptibility to sporadic primary dystonia. To date, there have been few candidate gene studies for primary dystonia and only two DYT genes, TOR1A and THAP1, have been assessed. We therefore employed a(More)