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.
We retrospectively reviewed the clinical records of all patients with cancer and brachial plexopathy who had an MRI of the brachial plexus between 1984 and 1993 (71 patients). The MRIs were reevaluated in a blinded fashion. The presence of a mass adjacent to the brachial plexus on MRI was highly predictive of tumor infiltration as determined by… (More)
We have analyzed Twinkle, the causative gene for autosomal dominant progressive external ophthalmoplegia (adPEO) on chromosome 10, in 11 Australian autosomal dominant progressive external ophthalmoplegia families of Caucasian origin, and investigated whether there are distinct molecular and clinical features associated with mutations in this gene. We found… (More)
Respiratory chain complex I deficiency is a common cause of Leigh's disease (LD) and can be caused by mutations in genes encoded by either nuclear or mitochondrial DNA (mtDNA). Most pathogenic mtDNA mutations act recessively and only cause disease when present at high mutant loads (typically >90%) in tissues such as muscle and brain. Two mitochondrial DNA… (More)
BACKGROUND Stroke-like episodes associated with Sturge-Weber Syndrome have previously been attributed to thrombosis within the leptomeningeal malformation causing infarction. CASE REPORT A 22-year-old woman with a right-sided port-wine nevus presented with acute left hemiparesis. Brain magnetic resonance imaging (MRI) demonstrated a vascular malformation… (More)
We report two patients with cryptococcal meningitis and combined immunodeficiency with unusual magnetic resonance imaging findings of gadolinium-enhancing white matter lesions, quite different from cryptococcomas and seen prior to anti-fungal treatment. The lesions resembled demyelinating plaques and resolved. In one patient, biopsy of the lesion revealed… (More)
The authors describe two patients with fixed shoulder elevation and prominent regional muscle hypertrophy that developed within days after local minor injury. The condition lacked several typical features of dystonia, such as the presence of torsional movements, task specificity, or relief by antagonistic gestures. These patient reports add to the growing… (More)
Mitochondrial DNA (mtDNA) deletions have been noted in small quantities in a handful of atypical cases of myotonic dystrophy and there are clinical and pathological parallels between this autosomal dominant disease and certain mitochondrial myopathies where such deletions are well recognised. We studied 20 individuals from typical pedigrees of myotonic… (More)