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1.
Riv Neurol ; 57(5): 285-9, 1987.
Artículo en Italiano | MEDLINE | ID: mdl-3445070

RESUMEN

Twenty-seven patients with autosomal recessive ataxia were studied. According to diagnostic criteria proposed by Quebec Cooperative Study, fifteen cases were diagnosed as Friedreich's ataxia. The remaining twelve cases showed clinical features of the "Early onset cerebellar ataxia with retained reflexes". The clinical differences between the two diseases are discussed. The high percentage of patients with "early onset cerebellar ataxia" is underlined.


Asunto(s)
Ataxia Cerebelosa/genética , Ataxia de Friedreich/genética , Adolescente , Factores de Edad , Ataxia Cerebelosa/diagnóstico , Niño , Preescolar , Diagnóstico Diferencial , Femenino , Ataxia de Friedreich/diagnóstico , Genes Recesivos , Humanos , Masculino
7.
Ital J Neurol Sci ; 5(4): 463-6, 1984 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-6530369

RESUMEN

A case of hypokalemic myopathy with systolic hypertension due to chronic liquorice ingestion is described. The clinical features quickly receded on potassium replacement therapy and discontinuation of liquorice ingestion. The relationship between the clinical features and the blood values and instrumental data is shown. The aldosterone-like action of the active principle of liquorice is underlined.


Asunto(s)
Enfermedades Transmitidas por los Alimentos/complicaciones , Glycyrrhiza , Hipopotasemia/etiología , Enfermedades Musculares/etiología , Plantas Medicinales , Humanos , Hipertensión/etiología , Masculino , Persona de Mediana Edad
8.
Riv Patol Nerv Ment ; 104(2): 49-59, 1983.
Artículo en Italiano | MEDLINE | ID: mdl-6679921

RESUMEN

Eight patients with Friedreich's ataxia and eight others with syndrome of spino-cerebellar degeneration received oral lecithin (21 g daily) for a six-month period. No relevant clinical change was note either during or soon after treatment. Statistical analysis was also irrelevant in the total number of patients. Similar results emerged when grouping the patients at the stage of the illness (stage II in contrast with stage III-IV). The outcome of therapeutical trials in literature is discussed in comparison with results.


Asunto(s)
Ataxia Cerebelosa/tratamiento farmacológico , Fosfatidilcolinas/uso terapéutico , Adolescente , Adulto , Ataxia Cerebelosa/genética , Femenino , Ataxia de Friedreich/tratamiento farmacológico , Humanos , Masculino , Persona de Mediana Edad , Síndrome
9.
Clin Toxicol ; 18(11): 1269-76, 1981 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-7341052

RESUMEN

Eleven male workers in a battery storage plant with lead and erythrocyte protoporphyrin blood actual levels greater than 50 and 100 micrograms %, respectively, and 18 male controls without lead exposure were tested by a clinical pendular eye tracking test (PETT). Each worker underwent a series of lead absorption measurements including blood lead, urinary lead, erythrocyte protoporphyrin, delta-aminolevulinic acid dehydratase activity, and urinary delta-aminolevulinic acid. The SPEMs were evaluated by an eye tracking technique. The subjects followed a horizontally moving target which, in the form of a luminous spot on a dark background, was projected onto a screen placed 1 m from the subject. The maximum predicted eye movement velocity during tracking was about 30 degrees/s. Skin electrodes were applied on the outer canthi of both eyes and SPEM were plotted on a polygraph, recording both the actual eye movements and the corresponding first derivative. Our findings suggest that lead workers display a disorder of motor coordination of SPEMs system, and the PETT is useful, when associated with biochemical data, to evaluate the degree of subclinical damage of nervous system during lead poisoning.


Asunto(s)
Movimientos Oculares/efectos de los fármacos , Plomo/toxicidad , Enfermedades Profesionales/inducido químicamente , Adulto , Humanos , Plomo/sangre , Masculino , Persona de Mediana Edad , Protoporfirinas/sangre
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