A novel Cys212Tyr founder mutation in parkin and allelic heterogeneity of juvenile Parkinsonism in a population from North West Colombia.

We report the molecular characterization of three multiplex families and a sporadic case of juvenile Parkinsonism identified in the province of Antioquia (Colombia). Linkage and haplotype analysis using markers in 6q25.2-27 indicated that Parkinsonism in the pedigrees is linked to the parkin gene (maximum LOD-score of 3.85) but that they carry two different mutant haplotypes. Sequence analysis revealed a novel G to A transition in exon 6 at position 736 (G736A) of parkin. This change results in a non-conservative cysteine for tyrosine substitution. All affected individuals from two families were homozygous for this mutation, which was not detected in 100 normal controls. Patients from the family carrying the second haplotype and the sporadic case were homozygous for a GT insertion in exon 3. This mutation has been previously identified in French families with juvenile Parkinsonism. The concomitant presence of founder effects and allelic heterogeneity in Antioquia might relate to the founding admixture at the origin of this population.

Síndromes parkinsonianos en Medellín (Colombia) / Parkinsonian syndromes in Medellin (Colombia)

Introducción. La definición de los síndromes parkinsonianos se basa en la evaluación clínica. Objetivo. Determinar la frecuencia de los síndromes parkinsonianos y su manejo usando criterios de inclusión y exclusión. Pacientes y métodos. Se seleccionaron 302 pacientes consecutivos con síntomas de parkinsonismo, 147 mujeres (48,7 por ciento) y 155 varones (51,3 por ciento), edad 66,8 años (11,4) (intervalo 13-90), escolaridad 7,5 (4,3) (intervalo 0-20), evaluados en los servicios de neurología de Medellín (Colombia). Se les aplicó un protocolo estructurado y cuantitativo. Resultados. El parkinsonismo más frecuente fue el idiopático, definido en 132 sujetos (43,7 por ciento). La enfermedad de Parkinson (EP) probable se encontró en 60 casos (19,9 por ciento), EP posible en ocho casos (2,6 por ciento), EP idiopática precoz (20 a 39 años) en 10 casos (3,3 por ciento), EP idiopática juvenil (<19 años) en un caso (0,3 por ciento), EP familiar en cinco casos (1,7 por ciento), EP con demencia (cuerpos de Lewy corticales) en 16 casos (5,4 por ciento), parálisis supranuclear progresiva en nueve casos (3 por ciento), atrofia sistémica múltiple en ocho casos (2,6 por ciento), EP con enfermedad cerebrovascular en 24 casos (8 por ciento), EP con lesión focal en 11 casos (3 por ciento), postmeningoencefalitis vírica en un caso (0,3 por ciento), con neurolúes en un caso (0,3 por ciento) y por medicamentos en 16 casos (5,3 por ciento). El 1,5 por ciento de los casos están sin medicación en un estado de I a II de la escala de Hoehn y Yahr. El 23,2 por ciento se encuentran en monoterapia, con dos medicaciones el 46,7 por ciento, con tres el 23,5 por ciento y con cuatro medicamentos el 5,1 por ciento. El 70,9 por ciento reciben levodopa, el 51,3 por ciento anticolinérgicos, el 33,4 por ciento I-MAO-B, el 33,1 por ciento amantadina, el 18,5 por ciento estimulantes D2 y el 2,6 por ciento I-COMT. Conclusión. La evaluación estructurada permite clasificar los diversos tipos de parkinsonismo con un nivel de fiabilidad proporcionado por los criterios de inclusión y exclusión (AU)

[Parkinsonian syndromes in Medellin (Colombia)]. / Síndromes parkinsonianos en Medellín (Colombia).

INTRODUCTION: The definition of parkinsonian syndromes is based on clinical criteria. OBJECTIVE: To determine the frequency and management of parkinsonism, using criteria of inclusion and exclusion. PATIENTS AND METHODS: We selected 302 consecutive patients, 147 females and 155 males, with parkinsonism, age 66.8 (11.4) (range: 13-90), grades of education 7.5 (4.3) (range: 0-20). A structured and quantitative protocol was applied to the sample. RESULTS: The most frequent parkinsonian syndrome was the defined idiopathic Parkinson's disease with 132 participants (43.7%). Probably idiopathic Parkinson's disease was found in 60 cases (19.9%), and possible idiopathic Parkinson's disease in eight cases (2.6%); early onset Parkinson's disease in 10 cases (3.3%), juvenile Parkinson's disease in one case (0.3%), familial Parkinson's disease in five cases (1.7%); cortical Lewy body disease in 16 cases (5.4%), progressive supranuclear palsy in nine cases (3.3%), multiple systemic atrophy in eight cases (2.6%). Secondary Parkinson's disease was distributed as follow: vascular disease in 24 cases (8%), local lesion in 11 cases (3%), medications in 16 cases (5.3%), meningoencephalitis in one case (0.3%) and syphilis in one case (0.3%). Without medication was found 1.5% of sample, which was in Hoehn & Yarh's state I to II. In monotherapy was found 23.2%, with two medications 46.7%, with three 23.5% and with four drugs 5.1%. Levodopa was prescript to 70.9%, anticholinergic to 51.3%, MAO-B-I to 33.4%, amantadine to 33.1%, D2 stimulants to 18.5%, and COMT-I to 2.6%. CONCLUSION: Structured protocol for assessment of parkinsonian syndromes allows reliable diagnoses for clinical and epidemiological purposes.

[Epidemiology of cerebrovascular diseases in Sabaneta, Colombia (1992-1993)]. / Epidemiología de las enfermedades cerebrovasculares en Sabaneta, Colombia (1992-1993).

INTRODUCTION AND OBJECTIVES: In Columbia the epidemiology of cerebrovascular illness (ECV) is unknown. For this reason a study was made to determine the prevalence, incidence and annual mortality, and to identify the different types of ECV and the demographic characteristics of the population. MATERIAL AND METHODS: In the urban area of Sabaneta, Columbia 13,588 door to door interviews were carried out among the inhabitants. A cutoff study carried out between April and June 1992 showed the prevalence of ECV. One year follow-up of persons without ECV between June 1992 and June 1993, enabled the incidence and annual mortality to be evaluated. A structured interview was used to identify the demographic characteristics of the population and classify people as healthy or as possibly having ECV. The latter were examined by neurologists to confirm or rule out the presence of ECV and to determine the type of ECV involved. Of the total urban population, 76.9% agreed to participate in the study. During the follow-up year, 8.4% were lost trace of. RESULTS AND CONCLUSIONS: The prevalence of ECV was 559.3/ 100,000 inhabitants, increasing with age (15). In the 15-40 year old group, the incidence of ECV was 44 times higher in women than in men. The annual incidence rate was 88.9/100,000 inhabitants: thromboembolic disease was the most frequent. Of a total of 87 cases of ECV, 12 (13.98%) died of various causes during the year in which they were being observed. The annual mortality rate for ECV was 16.2/100,000 inhabitants, all being primary cases.

[Prevalence of neurocysticercosis in individuals affected by epilepsy]. / Prevalencia de neurocisticercosis en individuos afectados de epilepsia.

INTRODUCTION: In this investigations, was carried out a neurocysticercosis (NC) prevalence study during seven months in the Instituto Neurológico de Antioquia with the purpose of known neurocysticercosis frequency as cause of epilepsy in patients older than ten years that we attended in our institute. MATERIAL AND METHODS: Computerized tomographies (CT) were made to 503 patients, with epilepsy, 24.7% of them were CT positive for NC. Cysticercosis enzyme linked immunoelectrotransfer blot (EITB) and enzyme linked immunoabsorbent assay (ELISA) test were made to 178 patients, 19.6% were EITB positive for NC and 5% ELISA positive for NC. Results. From this result it is possible to infer that about 8% of the 503 patients with epilepsy had cysticercosis, according to EITB that is the golden assay for NC. The CT and ELISA test had 94.3% and 27.7% sensitivity, respectively, according to EITB. The specificity of the CT for NC was 49.2% and specificity for ELISA test was 100% as compared to EITB. The multivariate analysis with logistic regression allowed to establish association of positive EITB with factors such as male sex, eating pork, headaches and multiple lesions in CT. CONCLUSIONS: Prevention and education actions are necessary for the interruption of the neurocysticercosis transmission chain in order to diminish the high prevalence of epilepsy in the country and its complication and consequences.