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1.
Arq Neuropsiquiatr ; 77(11): 761-767, 2019 11.
Article in English | MEDLINE | ID: mdl-31826131

ABSTRACT

INTRODUCTION: Falls are common among persons with Parkinson's disease (PD). On the other hand, predicting falls is complex as there are both generic and PD-specific contributors. In particular, the role of non-motor symptoms has been less studied. OBJECTIVE: The objective of this study was to identify the role of non-motor predictors of falling in persons with PD (PwP). METHODS: A cross-sectional study was carried out in PwP recruited from a movement disorders clinic. Clinical and demographical data were collected. All PwP were assessed using the Movement Disorders Society Unified Parkinson's Disease Rating Scale (MDS-UPDRS) and the Non-Motor Symptoms Scale (NMSS). Variables were assessed at the bivariate level. Significant variables were put into a logistic regression model. RESULTS: A total of 179 PwP were included. Overall, 16.8% of PwP had fallen in the past 12 months, with 53.3% of them being recurrent fallers. The mean number of monthly falls was 2.5 ± 3.3. Factors associated with falling in the bivariate analysis included the disease duration, Hoehn and Yahr stage, MDS-UPDRS part I and II, postural instability/gait disturbance (PIGD) subtype, NMSS urinary domain, NMSS miscellaneous domain, and non-motor severity burden (all p-values < 0.05). After multivariate analysis, only the disease duration (p = 0.03) and PIGD (p = 0.03) remained as independent risk factors. CONCLUSION: Disease duration and the PIGD subtype were identified as relevant risk factors for falls in PwP Non-motor symptoms appear to have a less important role as risk factors for falls.


Subject(s)
Accidental Falls/statistics & numerical data , Motor Disorders/complications , Motor Disorders/physiopathology , Parkinson Disease/complications , Parkinson Disease/physiopathology , Aged , Cross-Sectional Studies , Female , Gait Disorders, Neurologic/complications , Gait Disorders, Neurologic/physiopathology , Humans , Logistic Models , Male , Middle Aged , Multivariate Analysis , Postural Balance/physiology , Risk Assessment , Risk Factors , Severity of Illness Index , Statistics, Nonparametric , Time Factors
2.
Gac Med Mex ; 155(6): 602-607, 2019.
Article in English | MEDLINE | ID: mdl-31787767

ABSTRACT

INTRODUCTION: Cognitive impairment is common in Parkinson's disease and represents a risk for dementia. Identifying associated factors will help implement early interventions and study its progression. OBJECTIVE: To identify factors associated with cognitive impairment. METHOD: Cross-sectional study of 306 subjects with Parkinson's disease who were assessed for 12 months. Demographics and clinical variables were analyzed as explanatory variables, and cognitive impairment as outcome variable. Significant variables were used to construct a cognitive impairment predictive model. RESULTS: Cognitive impairment was reported in 43.8%. Female gender (p = 0.001, odds ratio [OR] = 1.77), age at diagnosis (p < 0.001, mean deviation [MD] = 5.7), level of education (p < 0.001, MD = -2.9), disease duration (p = 0.003, MD = 1.7), MDS-UPDRS part III score (p < 0.001, MD = 9.7), presence of anxiety (p = 0.007, OR = 2.11), hallucinations (p = 0.029, OR = 2.27) and freezing of gait (p = 0.048, OR = 1.91) were predictors for cognitive impairment. The use of type B monoamine oxidase inhibitors was associated with less cognitive impairment (p = 0.001). CONCLUSIONS: Predictive factors that were consistent with those previously reported were identified. Prospective studies are required in order to clarify the effect of type B monoamine oxidase inhibitors on cognition.


INTRODUCCIÓN: El deterioro cognitivo en Parkinson es común y representa un riesgo para demencia. Identificar los factores asociados ayudará a implementar intervenciones tempranas y estudiar la progresión del deterioro cognitivo. OBJETIVO: Identificar factores asociados con deterioro cognitivo. MÉTODO: Estudio transversal de 306 sujetos con Parkinson evaluados durante los últimos 12 meses. Se estudiaron variables demográficas y clínicas como explicativas y el deterioro cognitivo como desenlace. Las variables significativas se utilizaron para construir un modelo predictor de deterioro cognitivo. RESULTADOS: El 43.8 % reportó deterioro cognitivo. El sexo femenino (p = 0.001, RM = 1.77), edad al diagnóstico (p < 0.001, desviación media [DM] 5.7), escolaridad (p < 0.001, DM −2.9), duración de enfermedad (p = 0.003, DM 1.7), puntuación en MDS-UPDRS parte III (p < 0.001, DM 9.7), presencia de ansiedad (p = 0.007, RM = 2.11), de alucinaciones (p = 0.029, RM = 2.27) y congelamientos de la marcha (p = 0.048, RM = 1.91) fueron predictores para deterioro cognitivo. El uso de inhibidores ­monoamina-oxidasa tipo B se asoció con menor deterioro cognitivo (p = 0.001). CONCLUSIONES: Se identificaron factores predictores consistentes con lo reportado previamente. Se requieren estudios prospectivos para aclarar el efecto de los inhibidores monoamina-oxidasa tipo B en la cognición.


Subject(s)
Cognitive Dysfunction/etiology , Monoamine Oxidase Inhibitors/administration & dosage , Parkinson Disease/complications , Age Factors , Aged , Aged, 80 and over , Cognitive Dysfunction/epidemiology , Cross-Sectional Studies , Disease Progression , Female , Humans , Male , Mexico , Middle Aged , Monoamine Oxidase Inhibitors/pharmacology , Parkinson Disease/physiopathology , Risk Factors , Sex Factors , Time Factors
3.
Gac Med Mex ; 155(5): 508-512, 2019.
Article in English | MEDLINE | ID: mdl-31695229

ABSTRACT

Cannabis (marijuana) is one of the most consumed psychoactive substances in the world. The term marijuana is of Mexican origin. The primary cannabinoids that have been studied to date include cannabidiol and delta-9-tetrahydrocannabinol, which is responsible for most cannabis physical and psychotropic effects. Recently, the endocannabinoid system was discovered, which is made up of receptors, ligands and enzymes that are widely expressed in the brain and its periphery, where they act to maintain balance in several homeostatic processes. Exogenous cannabinoids or naturally-occurring phytocannabinoids interact with the endocannabinoid system. Marijuana must be processed in a laboratory to extract tetrahydrocannabinol and leave cannabidiol, which is the product that can be marketed. Some studies suggest cannabidiol has great potential for therapeutic use as an agent with antiepileptic, analgesic, anxiolytic, antipsychotic, anti-inflammatory and neuroprotective properties; however, the findings on cannabinoids efficacy and cannabis-based medications tolerability-safety for some conditions are inconsistent. More scientific evidence is required in order to generate recommendations on the use of medicinal cannabis.


El cannabis (marihuana) es una de las sustancias psicoactivas más consumidas en el mundo. El término marihuana es de origen mexicano. Los cannabinoides primarios estudiados hasta la fecha incluyen el cannabidiol y el delta-9-tetrahidrocannabinol (Δ9-THC), responsable de la mayoría de los efectos físicos y psicotrópicos del cannabis. Recientemente se descubrió el sistema endocannabinoide formado por receptores, ligandos y enzimas expresados ampliamente en el cerebro y su periferia, donde actúan para mantener el equilibrio en varios procesos homeostáticos. Los cannabinoides exógenos o fitocannabinoides de origen natural interactúan con el sistema endocannabinoide. La marihuana debe ser procesada en un laboratorio para extraer el tetrahidrocannabinol y dejar el cannabidiol, el producto que se puede comercializar. Algunos estudios otorgan al cannabidiol un gran potencial para el uso terapéutico como antiepiléptico, analgésico, ansiolítico, antipsicótico, antiinflamatorio y neuroprotector, sin embargo, son inconsistentes los hallazgos sobre la eficacia de los cannabinoides y la ­tolerabilidad-seguridad de los medicamentos con base en cannabis para cualquier padecimiento. Se requiere más evidencia científica para generar recomendaciones sobre el uso del cannabis medicinal.


Subject(s)
Cannabidiol/therapeutic use , Endocannabinoids/metabolism , Medical Marijuana/therapeutic use , Animals , Brain/metabolism , Cannabidiol/isolation & purification , Cannabidiol/metabolism , Cannabis/chemistry , Dronabinol/isolation & purification , Dronabinol/metabolism , Dronabinol/pharmacology , Humans , Rats , Receptor, Cannabinoid, CB1/metabolism , Receptor, Cannabinoid, CB2/metabolism , Receptors, Cannabinoid/metabolism , Swine , TRPV Cation Channels/metabolism
4.
Arq. neuropsiquiatr ; 77(11): 761-767, Nov. 2019. tab
Article in English | LILACS | ID: biblio-1055191

ABSTRACT

ABSTRACT Falls are common among persons with Parkinson's disease (PD). On the other hand, predicting falls is complex as there are both generic and PD-specific contributors. In particular, the role of non-motor symptoms has been less studied. Objective: The objective of this study was to identify the role of non-motor predictors of falling in persons with PD (PwP). Methods: A cross-sectional study was carried out in PwP recruited from a movement disorders clinic. Clinical and demographical data were collected. All PwP were assessed using the Movement Disorders Society Unified Parkinson's Disease Rating Scale (MDS-UPDRS) and the Non-Motor Symptoms Scale (NMSS). Variables were assessed at the bivariate level. Significant variables were put into a logistic regression model. Results: A total of 179 PwP were included. Overall, 16.8% of PwP had fallen in the past 12 months, with 53.3% of them being recurrent fallers. The mean number of monthly falls was 2.5 ± 3.3. Factors associated with falling in the bivariate analysis included the disease duration, Hoehn and Yahr stage, MDS-UPDRS part I and II, postural instability/gait disturbance (PIGD) subtype, NMSS urinary domain, NMSS miscellaneous domain, and non-motor severity burden (all p-values < 0.05). After multivariate analysis, only the disease duration (p = 0.03) and PIGD (p = 0.03) remained as independent risk factors. Conclusion: Disease duration and the PIGD subtype were identified as relevant risk factors for falls in PwP Non-motor symptoms appear to have a less important role as risk factors for falls.


RESUMEN Las caídas son frecuentes entre las personas con Parkinson (EP). La predicción de caídas es compleja ya que existen contribuyentes genéricos y específicos. El papel de los síntomas no motores ha sido menos estudiado. Objetivo: Identificar el papel de los factores no motores en caídas en personas con EP (PcP). Métodos: Estudio transversal en PcP reclutadas en una clínica de trastornos del movimiento. Se incluyeron datos clínicos y demográficos. Todos los PcP se evaluaron con la Escala Unificada de Enfermedad de Parkinson modificada por la Sociedad Internacional de Trastornos del Movimiento (MDS-UPDRS) y la Escala de Síntomas No Motores (NMSS). Se incluyeron variables significativas en un modelo de regresión logística. Resultados: Se incluyeron un total de 179 PcP El 16.8% había presentado una caída en los últimos doce meses y el 53.3% de forma recurrente. El número medio de caídas mensuales fue de 2.5 ± 3.3. Los factores asociados con la caída en el análisis bivariado fueron la duración de la enfermedad, Hoehn e Yahr, MDS-UPDRS parte I y II, subtipo de alteración de la marcha/inestabilidad postural (PIGD), dominio urinario del NMSS, dominio misceláneo del NMSS y carga de severidad no motora (todos los valores de p < 0.05). Después del análisis multivariado, solo la duración de la enfermedad (p = 0.03) y PIGD (p = 0.03) permanecieron como un factor de riesgo independiente. Conclusión: La duración de la enfermedad y PIGD se identificaron como factores de riesgo para caídas. Los síntomas no motores parecen tener un papel menos relevante en las caídas.


Subject(s)
Humans , Male , Female , Middle Aged , Aged , Parkinson Disease/complications , Parkinson Disease/physiopathology , Accidental Falls/statistics & numerical data , Motor Disorders/complications , Motor Disorders/physiopathology , Time Factors , Severity of Illness Index , Logistic Models , Cross-Sectional Studies , Multivariate Analysis , Risk Factors , Statistics, Nonparametric , Risk Assessment , Gait Disorders, Neurologic/complications , Gait Disorders, Neurologic/physiopathology , Postural Balance/physiology
5.
Gac. méd. Méx ; 155(5): 471-474, Sep.-Oct. 2019. tab
Article in English | LILACS | ID: biblio-1286545

ABSTRACT

Cannabis (marijuana) is one of the most consumed psychoactive substances in the world. The term marijuana is of Mexican origin. The primary cannabinoids that have been studied to date include cannabidiol and delta-9-tetrahydrocannabinol, which is responsible for most cannabis physical and psychotropic effects. Recently, the endocannabinoid system was discovered, which is made up of receptors, ligands and enzymes that are widely expressed in the brain and its periphery, where they act to maintain balance in several homeostatic processes. Exogenous cannabinoids or naturally-occurring phytocannabinoids interact with the endocannabinoid system. Marijuana must be processed in a laboratory to extract tetrahydrocannabinol and leave cannabidiol, which is the product that can be marketed. Some studies suggest cannabidiol has great potential for therapeutic use as an agent with antiepileptic, analgesic, anxiolytic, antipsychotic, anti-inflammatory and neuroprotective properties; however, the findings on cannabinoids efficacy and cannabis-based medications tolerability-safety for some conditions are inconsistent. More scientific evidence is required in order to generate recommendations on the use of medicinal cannabis.


Subject(s)
Humans , Animals , Rabbits , Cannabidiol/therapeutic use , Endocannabinoids/metabolism , Medical Marijuana/therapeutic use , Swine , Dronabinol/isolation & purification , Dronabinol/pharmacology , Cannabidiol/isolation & purification , Cannabinoids/pharmacology , Cannabis , Receptor, Cannabinoid, CB1/metabolism , Receptor, Cannabinoid, CB2/metabolism , TRPV Cation Channels/metabolism
6.
Gac Med Mex ; 155(5): 471-474, 2019.
Article in English | MEDLINE | ID: mdl-32091020

ABSTRACT

Cannabis (marijuana) is one of the most consumed psychoactive substances in the world. The term marijuana is of Mexican origin. The primary cannabinoids that have been studied to date include cannabidiol and delta-9-tetrahydrocannabinol, which is responsible for most cannabis physical and psychotropic effects. Recently, the endocannabinoid system was discovered, which is made up of receptors, ligands and enzymes that are widely expressed in the brain and its periphery, where they act to maintain balance in several homeostatic processes. Exogenous cannabinoids or naturally-occurring phytocannabinoids interact with the endocannabinoid system. Marijuana must be processed in a laboratory to extract tetrahydrocannabinol and leave cannabidiol, which is the product that can be marketed. Some studies suggest cannabidiol has great potential for therapeutic use as an agent with antiepileptic, analgesic, anxiolytic, antipsychotic, anti-inflammatory and neuroprotective properties; however, the findings on cannabinoids efficacy and cannabis-based medications tolerability-safety for some conditions are inconsistent. More scientific evidence is required in order to generate recommendations on the use of medicinal cannabis.


Subject(s)
Cannabidiol/therapeutic use , Endocannabinoids/metabolism , Medical Marijuana/therapeutic use , Animals , Cannabidiol/isolation & purification , Cannabinoids/pharmacology , Cannabis , Dronabinol/isolation & purification , Dronabinol/pharmacology , Humans , Mice , Receptor, Cannabinoid, CB1/metabolism , Receptor, Cannabinoid, CB2/metabolism , Swine , TRPV Cation Channels/metabolism
7.
Gac Med Mex ; 152(3): 357-63, 2016.
Article in Spanish | MEDLINE | ID: mdl-27335192

ABSTRACT

INTRODUCTION: Parkinson's disease is characterized by a broad spectrum of neuropsychiatric manifestations. Its pathophysiology has been associated with the disease itself as well as with the dopaminergic treatment. MATERIAL AND METHODS: A cross-sectional study was conducted in drug-naive patients with early Parkinson's disease. All participants were evaluated through a set of scales for specific neuropsychiatric symptoms including: cognition, depression, anxiety, apathy, psychosis, and impulse control disorder. RESULTS: A total of 63 patients with Parkinson were included, of whom 26 (41.3%) subjects had some degree of cognitive impairment; seven (11.1%) had depression and 11 (15.8%) subjects had anxiety. Regarding the other symptoms, a total of 12 (19%) patients showed apathy, seven (11.1%) had psychosis, and eight (12.6%) patients had symptoms related to impulse control disorders. CONCLUSION: Neuropsychiatric disorders are common in drug-naive patients with early Parkinson's disease. Given the impact of these symptoms on quality of life, identification and proper treatment is essential.


Subject(s)
Cognition Disorders/epidemiology , Mental Disorders/epidemiology , Parkinson Disease/complications , Quality of Life , Aged , Anxiety/epidemiology , Anxiety/etiology , Cognition Disorders/etiology , Cross-Sectional Studies , Depression/epidemiology , Depression/etiology , Disruptive, Impulse Control, and Conduct Disorders/epidemiology , Disruptive, Impulse Control, and Conduct Disorders/etiology , Female , Humans , Male , Mental Disorders/etiology , Mental Disorders/physiopathology , Middle Aged , Parkinson Disease/physiopathology , Parkinson Disease/psychology , Prevalence , Psychotic Disorders/epidemiology , Psychotic Disorders/etiology
8.
Arch Med Res ; 42(1): 44-7, 2011 Jan.
Article in English | MEDLINE | ID: mdl-21376262

ABSTRACT

BACKGROUND AND AIMS: Activation of histamine H3 receptors blocks the release of peptides responsible for headache. Our objective was to investigate the association between the genotypes of A280V polymorphism in the H3 receptor and migraine risk. METHODS: We evaluated the frequency of the genotypes of A280V, polymorphism A280V and allelic variants of H3 receptor in 147 migraine patients and 186 healthy controls using a PCR-RLFP method. RESULTS: V allele frequency was 6.46% and 2.68% for the cases and controls, respectively (p = 0.02) (OR 2.67; 95% CI 1.20-5.93). The frequency of V/V + V/A genotypes was 12.92% in migraine patients, significantly higher when compared to the 3.22% frequency in the control group (p = 0.001) (OR 4.45; 95% CI 1.7-11.46). CONCLUSIONS: The results of this study suggest that V-allele genotypes in the H3 receptor gene are related to migraine risk in the Mexican population. We propose the hypothesis that the V-allele genotypes in the H3 receptor gene increase the population of inactive receptors, enhancing the inhibition of the negative feedback mechanism on the H3 receptor and increasing histamine release, which correlates with migraine attacks in susceptible patients. The case-control study reinforces the role of histamine in migraine pathogenesis.


Subject(s)
Migraine Disorders/genetics , Polymorphism, Genetic , Receptors, Histamine H3/genetics , Adolescent , Adult , Aged , Alleles , Case-Control Studies , Genotype , Humans , Male , Mexico , Middle Aged , Risk Factors , Young Adult
9.
Rev Invest Clin ; 63(6): 621-9, 2011.
Article in Spanish | MEDLINE | ID: mdl-23650675

ABSTRACT

INTRODUCTION: Diabetes mellitus (DM) can present complications of neuropathy and peripheral arterial disease with high risk for developing foot ulcers and consequent amputations. OBJECTIVE: To identify the association between peripheral vascular disease, and neuropathy in type 2 Diabetes mellitus patients from the Hospital General de Zona No. 1 IMSS in Colima, Mexico. MATERIAL AND METHODS: Cross-sectional study of 80 patients with diabetes mellitus evaluated by means of the Edinburgh Claudication Questionnaire, Michigan Neuropathy Screening Instrument, ankle-arm index, Motor Nerve Conduction Velocity and H-reflex. RESULTS: 51 women and 29 men were studied. Mean age was 53.9 +/- 9.6 years, mean diabetes mellitus progression was 8 +/- 6.6 years and mean glucose level was 283 +/- 110 mg/mL. Neuropathy presented in 65 patients (81.2%). Ankle/arm index revealed 19% of patients presented with moderate peripheral vascular insufficiency. Motor Nerve Conduction Velocity was abnormal in 40% of patients and H-reflex was absent in 70%. DISCUSSION: Grade 2 motor-sensitive polyneuropathy was found in 70-80% of patients and moderate peripheral vascular insufficiency in 19%. It can thus be inferred that the complication of diabetic neuropathy appears before that of peripheral vessel damage.


Subject(s)
Diabetes Mellitus, Type 2/complications , Diabetic Angiopathies/etiology , Diabetic Neuropathies/etiology , Intermittent Claudication/etiology , Peripheral Nervous System Diseases/etiology , Aged , Ankle Brachial Index , Comorbidity , Cross-Sectional Studies , Diabetes Mellitus, Type 2/epidemiology , Diabetes Mellitus, Type 2/physiopathology , Diabetic Angiopathies/epidemiology , Diabetic Angiopathies/physiopathology , Diabetic Foot/etiology , Diabetic Foot/physiopathology , Diabetic Neuropathies/epidemiology , Diabetic Neuropathies/physiopathology , Female , H-Reflex , Heart Diseases/epidemiology , Humans , Hypertension/epidemiology , Intermittent Claudication/epidemiology , Intermittent Claudication/physiopathology , Male , Middle Aged , Neural Conduction , Obesity/epidemiology , Peripheral Nervous System Diseases/epidemiology , Peripheral Nervous System Diseases/physiopathology , Reflex, Abnormal , Surveys and Questionnaires , Time Factors
10.
Rev Med Inst Mex Seguro Soc ; 48(4): 427-30, 2010.
Article in Spanish | MEDLINE | ID: mdl-21194513

ABSTRACT

OBJECTIVE: To identify clinical characteristics and prognosis in patients with cranial trauma. METHODS: A longitudinal design was used to study 302 patients between the years 2003 and 2006. Variables were mechanism and type of lesion, localization, clinical condition, Glasgow Coma Scale and prognosis. Descriptive statistics, correlation analysis and odds ratio were applied. RESULTS: Motor vehicle accidents were in the first place (47%). The Glasgow mean score was 13. Half of the patients presented with loss of consciousness and the most common symptom, in 34% of them, was cephalgia. There was a proportionately inverse correlation (r-53, < 0.00001) between the Glasgow score and the number of hospitalization days. A two percent mortality was equally distributed in the period studied. Odds ratio for the motorcycle as mechanism was 2.02 (95% CI, 0.8- 4.2) and the OR for the frontoparietal region was 2.6 (95% CI, 0.6-2.3). CONCLUSIONS: The variables associated with unfavourable prognosis in cranial trauma were motorcycle accidents and damage to the frontoparietal region of the brain.


Subject(s)
Craniocerebral Trauma/diagnosis , Adolescent , Adult , Aged , Child , Child, Preschool , Female , Humans , Infant , Longitudinal Studies , Male , Middle Aged , Young Adult
11.
Gac Med Mex ; 142(5): 387-91, 2006.
Article in Spanish | MEDLINE | ID: mdl-17128818

ABSTRACT

BACKGROUND: Familial Parkinson's is a variant of Parkinson's disease (PD) transmitted generationally with an early onset. OBJECTIVE: Describe the clinical disease characteristics and its 18 year evolution among families in Colima presenting familial PD. MATERIALS AND METHODS: We determined disease diagnosis, evolution and hereditary pattern. The UPDRS system was used to follow the longitudinal course of the disease. Descriptive statistics were carried out using means and percentages. RESULTS: Three families were studied, with a total of 51 subjects aged 29 +/- 22 years spanning 4 generations. Thirty-seven percent of studied subjects displayed familial PD, with disease onset at 24 +/- 9 years of age. The highest UPDRS value was 175. Disease transmission with a dominant autosomic heredity pattern was shown. One hundred percent of first and second generation members from family number 1 displayed the disease. CONCLUSIONS: The three families displayed early onset PD and rapid progression, coinciding with described characteristics of type 1 familial Parkinsonism (PARK1). This disease is caused by the Ala53Thr mutation of the alpha-synuclein gene.


Subject(s)
Parkinson Disease/genetics , Adolescent , Adult , Age Distribution , Age of Onset , Aged , Aged, 80 and over , Child , Child, Preschool , Disease Progression , Female , Genetic Predisposition to Disease , Humans , Incidence , Longitudinal Studies , Male , Mexico/epidemiology , Middle Aged , Parkinson Disease/blood , Parkinson Disease/epidemiology , Pedigree , Severity of Illness Index , Sex Distribution
12.
Gac. méd. Méx ; 142(5): 387-391, sept.-oct. 2006. tab, ilus
Article in Spanish | LILACS | ID: lil-569512

ABSTRACT

Antecedentes. El parkinsonismo autosómico dominante es una variante de la enfermedad de Parkinson que se transmite por generaciones, manifestándose en edades tempranas. Objetivo. Describir las características clínicas de la enfermedad en familias de Colima con parkinsonismo autosómico dominante y su evolución a través de 18 años. Material y métodos. Se determinó el diagnóstico, evolución y patrón de herencia de la enfermedad. Para seguir su curso longitudinal se utilizó el sistema Unified Parkinson Disease Rating Scale (UPDRS). Se realizó estadística descriptiva con media y porcentajes. Resultados. Se estudiaron tres familias, un total de 51 individuos en 4 generaciones, de 29 ± 22 años, con Parkinsonismo familiar en 37% e inicio de la enfermedad a los 24 ± 9 años. La mayor calificación de UPDRS fue de 175. Se demostró transmisión de la enfermedad con patrón de herencia autosómica dominante. En la familia No. 1 se presentó en 100% de los integrantes de la primera y segunda generación. Conclusiones. Las tres familias tienen inicio temprano y rápida progresión de la enfermedad coincidiendo con las características descritas del parkinsonismo familiar tipo 1 (PARK1), originada por la mutación Ala53Thr en el gen de la alfa-sinucleína.


BACKGROUND: Familial Parkinson's is a variant of Parkinson's disease (PD) transmitted generationally with an early onset. OBJECTIVE: Describe the clinical disease characteristics and its 18 year evolution among families in Colima presenting familial PD. MATERIALS AND METHODS: We determined disease diagnosis, evolution and hereditary pattern. The UPDRS system was used to follow the longitudinal course of the disease. Descriptive statistics were carried out using means and percentages. RESULTS: Three families were studied, with a total of 51 subjects aged 29 +/- 22 years spanning 4 generations. Thirty-seven percent of studied subjects displayed familial PD, with disease onset at 24 +/- 9 years of age. The highest UPDRS value was 175. Disease transmission with a dominant autosomic heredity pattern was shown. One hundred percent of first and second generation members from family number 1 displayed the disease. CONCLUSIONS: The three families displayed early onset PD and rapid progression, coinciding with described characteristics of type 1 familial Parkinsonism (PARK1). This disease is caused by the Ala53Thr mutation of the alpha-synuclein gene.


Subject(s)
Humans , Male , Female , Child, Preschool , Child , Adolescent , Adult , Middle Aged , Aged, 80 and over , Parkinson Disease/genetics , Age Distribution , Age of Onset , Disease Progression , Parkinson Disease/blood , Parkinson Disease/epidemiology , Genetic Predisposition to Disease , Incidence , Longitudinal Studies , Mexico/epidemiology , Pedigree , Severity of Illness Index , Sex Distribution
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