James M. Gilchrist

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Amyotrophic lateral sclerosis (ALS) is a fatal degenerative motor neuron disorder. Ten percent of cases are inherited; most involve unidentified genes. We report here 13 mutations in the fused in sarcoma/translated in liposarcoma (FUS/TLS) gene on chromosome 16 that were specific for familial ALS. The FUS/TLS protein binds to RNA, functions in diverse(More)
We have identified a mutation in the myotilin gene in a large North American family of German descent expressing an autosomal dominant form of limb girdle muscular dystrophy (LGMD1A). We have previously mapped this gene to 5q31. Symptoms of this adult onset disease are progressive weakness of the hip and shoulder girdles, as well as a distinctive dysarthric(More)
The cardinal symptom of myasthenia gravis (MG) is weakness of voluntary muscles, a feature that may restrict full participation in life activities. In turn, such limitations may negatively affect quality of life (QOL) and well-being among individuals with the disease. In the present study, we administered a measure of QOL to 27 patients with generalized MG.(More)
Event-related potentials (ERPs) were recorded for visually presented words in young and older participants while they performed two tasks. In the indirect task, participants responded to occasional target words. Some of the nontarget words were repeated after a single intervening trial, and others were repeated after a mean of 10 trials. In the direct task(More)
PURPOSE Visual search measures have been used to evaluate the effects of pattern-related visual stress (PRVS), and its alleviation by colored filters, but tasks and results have varied between studies. Performance on a high-difficulty search task was measured in individuals having low- and high-PRVS susceptibility. METHODS Two PRVS groups (low and high)(More)
In the present study we administered a battery of cognitive measures that examined attention, response fluency, information processing, and verbal and visual learning and retention to 28 individuals with generalized myasthenia gravis (MG) and 18 demographically similar control subjects. Results revealed that MG patients performed significantly more poorly(More)
Limb-girdle muscular dystrophy (LGMD) is a diagnostic classification encompassing a broad group of proximal myopathies. A gene for the dominant form of LGMD (LGMD1A) has recently been localized to a 7-cM region of chromosome 5q between D5S178 and IL9. We studied three additional dominant LGMD families for linkage to these two markers and excluded all from(More)
Two polymorphic dinucleotide repeats--one (dGdA)n and one (dGdT)n--have been identified at the SCN4A locus, encoding the alpha-subunit of the adult skeletal muscle sodium channel. When typed using PCR, the dinucleotide repeats display 4 and 10 alleles, respectively, with a predicted heterozygosity of .81 for the combined haplotype. We have applied these(More)
Radiofrequency ablation (RFA) is a treatment modality for several types of malignancies and vascular malformations. Only limited information is available on neurologic complications following RFA. We report three cases of acute lumbosacral radiculopathy after abdominal RFA, in two of which electrophysiologic studies were performed. All three patients had(More)
We have examined fatigue in myasthenia gravis (MG) by administering a measure of cognitive and physical fatigue to patients and control subjects before and after administration of a lengthy cognitive battery. Subjects also completed a scale that assessed the impact of fatigue on physical, social, and cognitive function. Results of the study revealed that MG(More)