Huntington's Disease in Chile: Epidemiological and Genetic Aspects.

INTRODUCTION: Huntington's disease (HD) is a neurodegenerative, autosomal dominant disabling condition due to an expansion of the CAG trinucleotide in the HTT gene. Motor, psychiatric, and cognitive disorders characterize it. Chilean reports on HD in the era of molecular diagnosis were wanted. METHODS: This is a retrospective analysis of a prospective cohort of patients with HD seen at the Center for Movement Disorders (CETRAM) in Chile between 2013 and 2019. Sociodemographic, genotype, and neuropsychiatric features were investigated. RESULTS: One hundred three probands with HD were identified. The majority (63.1%) were born in the metropolitan region, followed by the VIII and V regions with 8.73% and 7.76%, respectively. When pedigrees were analyzed, ninety unrelated families encompassing 1,007 individuals were identified; among relatives, other 35 manifested HD, and 106 died of HD. Besides, five hundred seventy-nine individuals were at genetic risk. The minimum estimated prevalence of HD in Chile in 2019 was 0.72 × 100,000 inhabitants. The mean CAG repeats (CAGR) of 47.2 ± 10.74 for the expanded allele and 17.93 ± 2.05 for the normal allele. The mean age of onset was 41.39 ± 13.47 years. Juvenile cases represented 7.8% of this cohort, and 4.9% had a late onset. There was a negative correlation between the age of onset and the CAGR of the expanded allele (r =-0.84 p < 0.0001). Besides, 79.6% had a family history of HD. CONCLUSIONS: This is the first report characterizing genetics, motor, and neuropsychiatric features in patients with HD in Chile. The mean length of CAGR expansion of the abnormal allele was similar to previous reports in North America (i.e., Mexico and Canada) and higher than that reported in the neighboring country of Argentina. According to previous estimations, the minimal prevalence of HD in Chile may be lower than expected.

[Burden among caregivers of patients with Parkinson disease]. / Evaluación de la sobrecarga en los cuidadores de los pacientes con enfermedad de Parkinson ambulatorios y sus factores de riesgo.

BACKGROUND: Parkinson disease (EPI) patients often require being assisted by others. These caregivers are exposed to a decrease in their quality of Ufe. AIM: To explore Parkinson disease patient features associated with a greater burden among their caregivers. MATERIAL AND METHODS: Fifty one patients with Parkinson disease (aged 67 ± 12 years, 29 men, with 8 ± 5 years of disease) and their caregivers, were studied. Patients were assessed with the Unified Parkinson Disease Rating Scale III, the Hoehn & Yahr stage standardization, Parkinson s minimental test, the neuropsychiatric inventory and the Beck Depression Inventory (IDB). The Zarit Burden Interview (ESZ) was applied to caregivers. RESULTS: According to IDB, 45% of patients whose caregivers presented little or no burden had a depression, compared to 78% of those whose caregivers had modérate or intense burden. (p < 0.01). The ESZ score of caregivers correlated significantly with Parkinson patients' age, IDB and axial involvement in the UPDRS-III (correlation coefficients ofOAp < 0.01, 0.6p < 0.01 and 0.46 p < 0.01, respectively). CONCLUSIONS: Motor alterations, cognitive impairment and most importantly depression of patients with Parkinson disease are deteminants of burden for their caregivers.

Consenso chileno sobre Abobotulinumtoxina A (Dysport®): indicaciones, técnicas / Chilean Consensus for on abobotulinumtoxin A (Dysport®): indications, techniques

Botulinum neurotoxin is widely used to treat a variety of movement disorders, especially dystonia and spasticity. There botúlica different preparations of botulinum type A, that because biologics are difficult to compare. AbobotulinumtoxinA (Dysport ®) has recently been introduced in Chile for treating dystonia and spasticity. The aim of this paper is to provide a review by experts on the existing evidence and propose a practical guide to the use of the drug. Methods and Results: A group of Chilean experts met on 6 and 7 July 2012 to review AbobotulinumtoxinA doses along with injection protocols for dystonia, spasticity and other movement disorders. We worked in two groups, one composed of neurologists who reviewed the on dystonias and other by physiatrists who reviewed the indications for spasticity. Conclusions: Finally, there is a proposal in terms of dose, injection points and recommendations for dystonia and spasticity...

La neurotoxina botulínica es ampliamente usada para tratar una variedad de trastornos del movimiento, especialmente la distonía y la espasticidad. Existen diferentes preparados de toxina botúlica tipo A, que por ser productos biológicos resultan difícilmente comparables. La abobotulinumtoxinA (Dysport®) ha sido introducida en Chile recientemente para el tratamiento de la distonía y la espasticidad. El objetivo de este trabajo es entregar una revisión hecha por expertos sobre la evidencia existente y plantear una guía práctica para el uso del medicamento. Métodos y Resultados: Un grupo de expertos chilenos se reunieron el 6 y 7 julio de 2012 para revisar las dosis abobotulinumtoxin A, junto con los protocolos de inyección para la distonía, la espasticidad y otros trastornos del movimiento. Se trabajó en dos grupos, uno compuesto por neurólogos que revisaron las indicaciones en distonías y otro por fisiatras que revisaron las indicaciones para espasticidad. Conclusiones: Finalmente, se realiza una propuesta en cuanto a dosis, puntos a inyectar y recomendaciones para la distonia y espasticidad...

Evaluación de la sobrecarga en los cuidadores de los pacientes con enfermedad de Parkinson ambulatorios y sus factores de riesgo / Burden among caregivers of patients with Parkinson disease

Background: Parkinson disease (EPI) patients often require being assisted by others. These caregivers are exposed to a decrease in their quality of Ufe. Aim: To explore Parkinson disease patient features associated with a greater burden among their caregivers. Material ana Methods: Fifty one patients with Parkinson disease (aged 67 ± 12years, 29 men, with 8 ± 5years of disease) and their caregivers, were studied. Patients were assessed with the Unified Parkinson Disease Rating Scale III, the Hoehn & Yahr stage standardization, Parkinson s minimental test, the neurop-sychiatric inventory and the Beck Depression Inventory (IDB). The Zarit Burden Interview (ESZ) was applied to caregivers. Results: According to IDB, 45% of patients whose caregiverspresented little or no burden had a depression, compared to 78% of those whose caregivers had modérate or intense burden. (p < 0.01). The ESZ score of caregivers correlated significantly with Parkinson patients' age, IDB and axial involvement in the UPDRS-III (correlation coefficients ofOAp < 0.01, 0.6p < 0.01 and 0.46p < 0.01, respectively). Conclusions: Motor alterations, cognitive impairment and most importantly depression of patients with Parkinson disease are deteminants of burden for their caregivers.