Recurrent episodes of confusion, headache and visual disturbance in a young woman.
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Biomedical subjects
Publications and source records attributed to W D Baker.
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Three cases with sensory peripheral neuropathies are reported. Case 1 presented with scoliosis, and cases 2 and 3 presented with abnormal gait. None had trophic limb changes, evidence of weakness, or a tendency to self-mutilation and each had normal motor studies on neurophysiological testing. Sural nerve biopsies showed a severe loss of myelinated fibres and case 3 had evidence of denervation on muscle biopsy. These cases are presented as examples of hereditary sensory neuropathy type II. They are unusual in that they do not have trophic changes.
Skeletal muscle of Duchenne muscular dystrophy (DMD) patients, DMD carriers and of patients with other neuromuscular diseases was sampled at diagnostic muscle biopsy. The incorporation of isotopic precursors into protein and RNA in a 1-hour in vitro incubation of these samples was then determined. Individual DMD results overlap with these obtained with normal muscle, and an inverse relationship is observed between DMD patient age and incorporation into skeletal muscle protein. The protein and RNA incorporation of DMD carrier skeletal muscle was normal. Limb-girdle dystrophy shows an increase in protein incorporation, while nemaline myopathy, dystrophia myotonica and polymyositis show increases in both protein and RNA incorporation over normal skeletal muscle. The significance of the incorporation observed in the neuromuscular disorders studied in discussed.
Chicken sciatic nerves undergo demyelination following intraneural injection of diphtheria toxin and subsequent atrophy of some muscular cells. Paresis occurs after one week and lasts approximately three weeks; at the height of the lesion C14-leucine was injected into the ventral horn cells of the spinal cord. The axonal transport of fast flowing labelled proteins was followed down the sciatic nerve axons and flow rates at two different times were measured. Muscle cells were stained for succinic dehydrogenase and ATPase; fibre diameters, total protein, and total radioactivity associated with the nerves were also measured. The results showed that the fast flowing labelled proteins accumulated at the demyelination site while the muscle cells supplied by these nerves showed reduction of fibre diameter and evidence of degeneration. Further studies are in progress on slow moving proteins and muscle cells.
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