RESUMO
INTRODUCTION: Recently the clinical and genetic investigation of cerebellar diseases has experienced an extraordinary advance due to localization of the disorders in different chromosomal loci. This type of investigation has been done in Peru in the last decade, studying a Peruvian family from the Huarochiri province. PATIENTS AND METHODS: A Peruvian family of 65 individuals in five generations, affected by several neurological disturbances associated with ataxia, were studied by clinical, neurological, ophthalmological, neuroradiological and genetic methods. The genetic study was done in the neurogenetics laboratory of the University of Utah (Salt Lake City, United States). RESULTS: The patients showed equilibrium disturbances, gait difficulties, ophthalmoplegia, corticospinal signs, cognitive deficiencies, visual weakness, maculopathy, retinal degeneration, optic nerve atrophy and atrophy of the cerebellum, brain stem and cerebral hemispheres. The DNA in 30 individuals showed, in the neurologically affected, repeated expansion of CAG triplets in the short arm of chromosome 3p. CONCLUSIONS: The findings in this family suggests that they suffer from spinocerebellar ataxia type 7. This could be the first description of the disease in Latin-America.
Assuntos
Ataxias Espinocerebelares/diagnóstico , Ataxias Espinocerebelares/genética , Adulto , Idoso , Atrofia/patologia , Tronco Encefálico/patologia , Cerebelo/patologia , Cromossomos Humanos Par 3/genética , Transtornos Cognitivos/diagnóstico , Feminino , Lateralidade Funcional/fisiologia , Humanos , Angiografia por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Nervo Óptico/patologia , Linhagem , Peru , Índice de Gravidade de Doença , Ataxias Espinocerebelares/fisiopatologia , Tomografia Computadorizada por Raios X , Expansão das Repetições de Trinucleotídeos/genética , Transtornos da Visão , Escalas de WechslerRESUMO
Reportamos una familia de 69 personas cuyos miembros nacieron en una ciudad ubicada a 2,700 metros sobre el nivel del mar, 20 de los cuales fueron afectados con ataxia cerebelosa progresiva autosómica dominante. Las edades de los pacientes estaban entre 16 y 69 años. En todos ellos se comprobó prolapso de la válvula mitral. La ataxia se asoció con piramidalismo, disminución de la agudeza visual por alteraciones del pigmento retiniano, degeneración pigmentaria de la mácula, así como palidez y atrofia del nevio óptico. El estudio con tomografía axial computarizada del cerebro demostró atrofia del cerebelo, del tronco cerebral y de los hemisferios cerebrales. Hubo diversos grados de alteraciones en la motilidad conjugada de los ojos. Las pruebas neuropsicológicas para determinar el nivel de inteligencia, en doce pacientes, demostraron deficiencia mental en todos ellos.
Assuntos
Ataxia Cerebelar , Deficiência Intelectual , Prolapso da Valva Mitral , Epitélio Pigmentado OcularRESUMO
Revisión de publicaciones hechas en Perú acerca de la masticación de las hojas de coca, desde el descubrimiento de América hasta la época contemporánea. Se revisan los estudios epidemiológicos acerca del uso de drogas a diferentes niveles. La parte central es el estudio clínico de 616 pacientes dependientes de la PBC atendidos en hospitales generales, psiquiátricos y consultorios especializados, provenientes de todas las clases sociales, instrucción relativamente avanzada y diversas ocupaciones
Assuntos
Cocaína , Transtornos Relacionados ao Uso de Substâncias , Transtornos Relacionados ao Uso de Substâncias/epidemiologiaRESUMO
Coca paste is an intermediary product in the chemical extraction of cocaine from coca leaves. Abusers smoke coca paste in a dried form, which contains from 40 to 91 per cent cocaine. Over the past 10 years, this pattern of drug abuse has attained epidemic proportions in some Latin American countries, particularly in Bolivia, Colombia and Peru. Addiction to coca paste develops in a few months and has serious health, social and economic consequences. The problem is particularly acute in Latin American countries because of the high doses of coca paste involved. The smoking of coca paste causes four distinct successive phases of mental disorder: euphoria, dysphoria, hallucinosis and paranoid psychosis. It can produce severe intoxication, prolonged or relapsing psychosis and, in some cases, death. Cocaine has been found in the blood of coca-leaf chewers, coca-paste smokers and users of cocaine hydrochloride. Excessive coca-paste smoking is often resistant to therapeutic interventions and there is a high rate of relapse after treatment and rehabilitation.