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Affected members and asymptomatic relatives of 9 Italian families with transthyretin (TTR)-related hereditary amyloidosis carrying different TTR mutations (Met30, Pro36, Ala47, Ala49, Gln89) were followed up with repeated EMG investigations. In 3 patients, spontaneous myoclonic discharges with synkinesia were found in the facial muscles. EMG signs of chronic denervation with features of proximal...
Objective. Endozepines (endogenous benzodiazepines) are naturally occurring compounds, acting as allosteric modulators of the GABA-A receptor and secreted by neurons. Chemical structure and physiological properties of endozepines are still unknown. We describe here a new syndrome of repeated stupor and coma episodes, characterized by increased endozepine-4 activity. Methods and results. In 1990 we...
Clinical (paresthesiae and Trousseau's sign), EMG, blood biochemical (lactic acid and total Ca 2+ ) and gas-analytic (pH, PCO 2 , PO 2 , HCO 3 ) changes were studied during and after 5 min voluntary hyperventilation (HV) in 15 normal subjects. Paresthesiae and spontaneous motor activity were common manifestations (87% and 67% respectively) in our test. They were...
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