We report on a pedigree of dominantly-inherited, adult-onset Alexander disease caused by the glial fibrillary acidic protein (GFAP) gene mutation, R416W. This pedigree highlights the importance of genetic analysis of the GFAP gene in leukodystrophy with palatal tremor.
Parkinson's disease (PD) is a progressive, incurable neuro-degenerative disease. Symptoms appear when approximately 70% of mid-brain dopaminergic neurons have died. Temporal analysis of the calculated area of the rima glottidis may give an indication of vocal impairment. In this paper, we present an automatic segmentation algorithm to segment the rima… (More)
Vocal folds are the key body structures that are responsible for phonation and regulating air movement into and out of lungs. Various vocal fold disorders may seriously impact the quality of life. When diagnosing vocal fold disorders, CT of the neck is the commonly used imaging method. However, vocal folds do not align with the normal axial plane of a neck… (More)
Multimodal representation of peripersonal or near space has been demonstrated in the brain of the nonhuman primate through invasive electrophysiological experiments. Representation of peripersonal space in the human brain has been inferred from extinction experiments and functional imaging studies. We present a unique case of lower limb myoclonus in a… (More)
We describe an unusual form of facial myoclonus activated by speech in 3 patients with different underlying neurological diseases and present the electrophysiological investigations and results of structural and functional imaging. In 1 of 2 patients in whom jerk-locked electroencephalogram (EEG) back-averaging was done, a cortical potential clearly… (More)
Oppenheim's or DYT1 dystonia is a primary dystonia typically presenting in a limb at an early age and usually becoming generalised within 5 years. Over the last decade research into this debilitating disorder has progressed considerably, enabling the identification of a genetic lesion (a 3bp deletion in the DYT1 gene) now widely accepted as the cause of a… (More)