Publicación Oficial de la Sociedad Ecuatoriana de Neurología, de la Liga Ecuatoriana Contra la Epilepsia y de la Sociedad Iberoamericana de Enfermedad Cerebrovascular

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Síndrome de Tourette Familiar: Reporte De Caso y Revisión de la Literatura. Familial Tourette Syndrome: Case Report And Review Of Literature.

Tourette syndrome is a childhood neuropsychiatric disorder characterized by multiple motor and vocal tics of at least one year. Its exact etiology is unknown, but fronto-subcortical neural pathways and complex interactions between social, environmental and genetic factors have been involved. Genetic studies have reported susceptibility loci in genes involved in synaptic connection, however, evidence is needed in larger samples. This case report describes a 14-year-old boy with a personal and family history of Tourette’s syndrome, suggesting an autosomal dominant mechanism of inheritance.

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Caracterización Clínico-Epidemiológica del Temblor Esencial en Familias de Holguín y Matanzas, Cuba.

Essential tremor (ET) is a bilateral mostly simmetric disorder, usually postural but kinetic and rest tremor can be present, it involves the arms and hands. A tranversal study was made to get an epidemiological, functional and fenomenological characterization of ET. Patients with clinical criteria of ET were selected from movement disorders clinic from two cuban provinces; the Fahn, Tolosa and Marín functional disability scale was applied to the sample. A total of 105 patients were evaluated, 64.7% female, 40.0% over 60 years, 80.9% were white, in 36.1% tremor began between 21 and 40 years, superior limbs were affected in 90.4%, 85.9% showed a beginning age anticipation, 87.7% were from Holguín, just 8 sporadic cases; in 53.8% associated diseases were found, an autosomal dominant inheritance was evident. Functions included in the scale’s part B showed a moderate disability (25-49%) and those which belong to part C had low disability (1-24%).

Conclusions. Most of the sample was from Holguín. Female, whites and older than 60 years were predominant, tremor mostly began between 21 and 40 years, superior limbs were the most affected body part, dominant autosomal inheritance was predominant, with anticipation in begining age. Association with some other diseases was frequent, many patients showed functional disability.

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