[Polygraphic recording of a nocturnal paroxysmal episode: epileptic crisis or pavor nocturnus?].
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Biomedical subjects
Publications and source records attributed to G Ambrosetto.
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We report an Italian family affected by familial amyloid polyneuropathy. In two siblings, the diagnosis was confirmed by skin biopsy which revealed an unusual involvement of cutaneous nerves. Immunohistochemical studies confirmed the presence of prealbumin in the amyloid deposits.
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The authors present a family affected by benign chorea. It is a hereditary disease, characterized by dominant autosomic transmission, with incomplete penetrance. Genetic, clinical and evolutional features are reported. The choreic movements rise in the first twenty years of life but psychological deterioration, epilepsy or other neurological symptoms did not emerge. Pharmacological treatments did not help in such non progressive abnormal movements in our subjects. Computerized tomographic scan resulted negative in four subjects, examined in different phases of the disease. This confirms the hypothesis of a functional, rather than structural, lesion in this benign form of familial chorea.
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