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1.
Neurol India ; 70(5): 2003-2008, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36352601

RESUMEN

Background: Telemedicine (TM) consultations have shown to be feasible for the management of neurological conditions including movement disorders. In contrast, satisfaction with such consultations have been less studied. Objective: To assess the satisfaction of persons with a movement disorder with a TM consultation in comparison to previous experiences in face-to-face visits. Subjects and Methods: A cross-sectional multicenter study was carried out. Persons with a diagnosis of a movement disorder underwent a TM consultation. After the consultation concluded, a satisfaction survey was sent for the subject to fill out anonymously. The survey included ease of use-related items, setup-related items, and quality-of-service-related items. Results: A total of 175 survey responses were received (response rate of 71.4%), all of which were included for analysis. A total of 102 subjects considered that the TM consultation involved much less time in comparison to their previous experience with face-to-face visits. Overall, 96% reported to be satisfied with the consultation. In addition, 92% were satisfied or very satisfied with the neurologist ability to communicate recommendations. Furthermore, 93.7% indicated that the consultation was valuable, and 90.9% considered that they would recommend teleconsultation to another patient. Conclusion: Patients with a diagnosis of a movement disorder consider TM as a convenient and potential tool for health services with a high level of satisfaction.


Asunto(s)
COVID-19 , Temblor Esencial , Trastornos Parkinsonianos , Consulta Remota , Telemedicina , Humanos , Pandemias , Satisfacción Personal , Estudios Transversales , Temblor Esencial/diagnóstico , Temblor Esencial/terapia , Estudios de Seguimiento , Satisfacción del Paciente , Trastornos Parkinsonianos/diagnóstico , Trastornos Parkinsonianos/terapia
2.
Arq Neuropsiquiatr ; 80(9): 914-921, 2022 09.
Artículo en Inglés | MEDLINE | ID: mdl-36261128

RESUMEN

BACKGROUND: Telemedicine for patients with parkinsonism is feasible, cost-effective and satisfactory. However, the feasibility of this modality of care for this subpopulation is not known in real-life scenarios of developing countries like Brazil. OBJECTIVE: To evaluate the feasibility of telemedicine for patients with parkinsonism in a developing country. METHODS: A cross-sectional study with patients with parkinsonism treated in the Brazilian public healthcare system. We included 130 patients, who were contacted by telephone; those who could be reached underwent a structured interview for data collection. The primary outcomes were the feasibility of teleconsultations and video consultations, but we also performed a logistic regression regarding the feasibility of a video consultation and associated factors. RESULTS: Telemedicine was feasible and accepted by 69 (53.08%) patients regarding teleconsultations and by 50 (38.5%) patients regarding video consultations. Teleconsultations were feasible for 80.2%, and video consultations were feasible for 58.1% of the patients reachable through telephone calls. Having a higher family income was positively correlated with the feasibility for a video consultation while a negative association was observed regarding being married or in a stable union and having a low level of schooling. CONCLUSIONS: A significant proportion of patients with parkinsonism in a developing country are unreachable, unwilling, or unable to participate in telemedicine. Among the reachable patients, feasibility is higher but still lower than what is reported in studies in developed countries. Family income, level of schooling, and marital status were associated with the feasibility of video consultations.


ANTECEDENTES: A telemedicina para pacientes com parkinsonismo é viável, econômica e satisfatória. No entanto, a viabilidade dessa modalidade de atendimento para essa subpopulação não é conhecida no cenário da vida real de países em desenvolvimento como o Brasil. OBJETIVO: Avaliar a viabilidade da telemedicina para pacientes com parkinsonismo em um país em desenvolvimento. MéTODOS: Estudo transversal com pacientes com parkinsonismo atendidos na rede pública de saúde brasileira. Foram incluídos 130 pacientes, que foram contatados por telefone; os que responderam foram submetidos a uma entrevista estruturada para coleta de dados. Os resultados primários foram a viabilidade para teleconsultas e videoconsultas, mas também foi realizada uma regressão logística entre a viabilidade de uma videoconsulta e fatores associados. RESULTADOS: A participação em telemedicina era possível ou consentida por 69 (53,08%) dos pacientes com relação a teleconsultas, e por 50 (38,5%) com relação a videoconsultas. As teleconsultas e videoconsultas eram viáveis para 80,2% e 58,1% dos pacientes acessíveis por telefone, respectivamente. Uma maior renda familiar foi positivamente correlacionada com a viabilidade de uma videoconsulta, enquanto uma associação negativa foi observada com relação a ser casado ou estar em união estável e ter baixo grau de escolaridade. CONCLUSõES: Uma proporção significativa de pacientes com parkinsonismo em um país em desenvolvimento é inacessível, não quer, ou não pode participar da telemedicina. Entre os pacientes contatáveis, a viabilidade é maior, mas ainda menor do que a relatada em estudos em países desenvolvidos. Renda familiar, escolaridade e estado civil foram associados à viabilidade das videoconsultas.


Asunto(s)
Trastornos Parkinsonianos , Consulta Remota , Telemedicina , Humanos , Brasil , Estudios de Factibilidad , Salud Pública , Estudios Transversales , Trastornos Parkinsonianos/terapia
3.
Arq. bras. neurocir ; 38(2): 124-127, 15/06/2019.
Artículo en Inglés | LILACS | ID: biblio-1362598

RESUMEN

Juvenile parkinsonism (JP) is characterized by the clinical manifestation of Parkinson syndrome before the age of 21 years old. This entity is often associated with genetic mutations. After all the possibilities of clinical treatment have been exhausted, surgical treatment is recommended, performed via deep brain stimulation (DBS) in the subthalamic nucleus (STN) or in the internal segment of the globus pallidus (GPi). The present study aimed to report the case of a patient with JP who underwent DBS in the STN with good clinical response. Neuromodulation via DBS is an option for the treatment of JP. However, since this entity is very rare, and even more peculiar when treated surgically, more studies are necessary to evaluate DBS used to control refractory manifestations and levodopa-induced dyskinesia, as well as surgical complications that may occur, aiming to gather more knowledge of the surgical management of JP. Despite the dysarthria after the DBS, the patient presented a satisfactory response regarding the symptoms, corroborated by the Parkinson's Disease Questionnaire (PDQ-39) score, which was 61.19% before the procedure, and decreased to 21.05% 14 months after the DBS.


Asunto(s)
Humanos , Masculino , Adulto , Núcleo Subtalámico , Trastornos Parkinsonianos/tratamiento farmacológico , Trastornos Parkinsonianos/terapia , Estimulación Encefálica Profunda , Disartria/complicaciones , Calidad de Vida/psicología , Encuestas y Cuestionarios
4.
J Neurol Sci ; 388: 214-219, 2018 05 15.
Artículo en Inglés | MEDLINE | ID: mdl-29525296

RESUMEN

BACKGROUND: A high prevalence of an atypical levodopa-resistant parkinsonism has been reported in the Caribbean island of Guadeloupe. These seminal observations have not been replicated or extended to neighbouring populations who share genetic and environmental characteristics. METHODS: To further characterise this atypical parkinsonism we prospectively investigated 305 consecutive patients with neurodegenerative parkinsonism in a community-based population from Guadeloupe and Martinique, a neighbouring French Caribbean island where the population has similar environmental and genetic backgrounds. The aims of this study were to confirm the frequency of atypical parkinsonism within this cohort and to precisely define its clinical phenotype. RESULTS: A high frequency (66%) of atypical parkinsonism was identified in both Guadeloupe and Martinique. The clinical phenotype consisted of a levodopa-resistant parkinsonism with postural instability (72%), early dementia (58%), dysautonomia (58%), rapid-eye-movement sleep behavioural disorder (53%), hallucinations (43%), and supranuclear gaze palsy (29%). A low educational level was identified as a major risk factor for developing atypical parkinsonism (p < .001). CONCLUSION: Our findings support the existence of a distinctive atypical parkinsonism - Caribbean Parkinsonism - within the French Caribbean Islands. This could either correspond to a single entity or reflect a propensity for developing more widespread and rapidly progressive lesions in Caribbean patients with parkinsonism. In both cases, genetic susceptibility and/or environmental exposure may be involved.


Asunto(s)
Trastornos Parkinsonianos/epidemiología , Anciano , Estudios Transversales , Escolaridad , Femenino , Guadalupe/epidemiología , Humanos , Masculino , Martinica/epidemiología , Trastornos Parkinsonianos/terapia , Fenotipo , Estudios Prospectivos , Factores de Riesgo
5.
Brain Res ; 1657: 253-261, 2017 02 15.
Artículo en Inglés | MEDLINE | ID: mdl-28041945

RESUMEN

Leucine-rich repeat kinase 2 (LRRK2) has been linked to familial and sporadic Parkinson's disease. However, it is still unresolved whether LRRK2 in dopaminergic (DAergic) neurons may or may not aggravate the phenotype. We demonstrate that knocking down (KD) the Lrrk gene by RNAi in DAergic neurons untreated or treated with paraquat (PQ) neither affected the number of DAergic clusters, tyrosine hydroxylase (TH) protein levels, lifespan nor locomotor activity when compared to control (i.e. TH/+) flies. KD transgenic Lrrk flies dramatically increased locomotor activity in presence of TH enzyme inhibitor alpha-methyl-para-tyrosine (aMT), whereas no effect on lifespan was observed in both fly lines. Most importantly, KD Lrrk flies had reduced lipid peroxidation (LPO) index alone or in presence of PQ and the antioxidant minocycline (MC, 0.5mM). Taken together, these findings suggest that Lrrk appears unessential for the viability of DAergic neurons in D. melanogaster. Moreover, Lrrk might negatively regulate homeostatic levels of dopamine, thereby dramatically increasing locomotor activity, extending lifespan, and reducing oxidative stress (OS). Our data also indicate that reduced expression of Lrrk in the DAergic neurons of transgenic TH>Lrrk-RNAi/+ flies conferred PQ resistance and absence of neurodegeneration. The present findings support the notion that reduced/suppressed LRRK2 expression might delay or prevent motor symptoms and/or frank Parkinsonism in individuals at risk to suffer autosomal dominant Parkinsonism (AD-P) by blocking OS-induced neurodegenerative processes in the DAergic neurons.


Asunto(s)
Proteínas de Drosophila/antagonistas & inhibidores , Trastornos Parkinsonianos/metabolismo , Trastornos Parkinsonianos/patología , Proteínas Serina-Treonina Quinasas/antagonistas & inhibidores , Animales , Animales Modificados Genéticamente , Antioxidantes/farmacología , Supervivencia Celular/efectos de los fármacos , Supervivencia Celular/fisiología , Dopamina/metabolismo , Neuronas Dopaminérgicas/efectos de los fármacos , Neuronas Dopaminérgicas/metabolismo , Neuronas Dopaminérgicas/patología , Proteínas de Drosophila/genética , Drosophila melanogaster , Femenino , Minociclina/farmacología , Actividad Motora/efectos de los fármacos , Actividad Motora/fisiología , Estrés Oxidativo/efectos de los fármacos , Estrés Oxidativo/fisiología , Paraquat , Trastornos Parkinsonianos/terapia , Proteínas Serina-Treonina Quinasas/genética , Interferencia de ARN , Tratamiento con ARN de Interferencia , Tirosina 3-Monooxigenasa/antagonistas & inhibidores , Tirosina 3-Monooxigenasa/metabolismo
6.
Porto Alegre; Universidade Federal do Rio Grande do Sul. Telessaúde; 2017. ilus.
No convencional en Portugués | LILACS | ID: biblio-995641

RESUMEN

As principais causas de tremor em pacientes atendidos na Atenção Primária à Saúde são: exacerbação de tremor fisiológico, tremor essencial (acomete 5% da população acima de 40 anos) e as síndromes parkinsonianas. É importante definir corretamente sua origem, pois o tratamento e o prognóstico são variados. Esta guia apresenta informação que orienta a conduta para casos de tremor e síndromes parkinsonianas no contexto da Atenção Primária à Saúde, incluindo: etiologia do tremor e síndromes parkinsonianas, avaliação clínica, tipos de tremor, sintomas cardinais de parkinsonismo, medicamentos indutores, fluxograma de avaliação do tremor, exames complementares, tratamento do tremor essencial e doença de parkinson, encaminhamento para serviço especializado.


Asunto(s)
Humanos , Trastornos Parkinsonianos/diagnóstico , Trastornos Parkinsonianos/terapia , Temblor Esencial/diagnóstico , Temblor Esencial/terapia , Atención Primaria de Salud , Derivación y Consulta , Antipsicóticos/uso terapéutico , Bloqueadores de los Canales de Calcio/uso terapéutico , Hipocinesia , Antieméticos/uso terapéutico
8.
In. Salamano Tessore, Ronald; Scaramelli Giordan, Alejandro; Oehninger Gatti, Carlos; Buzó del Puerto, Ricardo. Diagnóstico y tratamiento en Neurología. Montevideo, Udelar, 2 ed; 2015. p.273-282.
Monografía en Español | BVSNACUY | ID: bnu-181357
9.
Parkinsonism Relat Disord ; 20(8): 884-8, 2014 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-24881494

RESUMEN

OBJECTIVES: Perry syndrome consists of autosomal dominant Parkinsonism, depression, weight loss, and central hypoventilation. Eight mutations in 16 families have been reported: p.F52L, p.G67D, p.G71R, p.G71E, p.G71A, p.T72P, p.Q74P, and p.Y78C located in exon 2 of the dynactin 1 (DCTN1) gene on chromosome 2p13.1. METHODS: Genealogical, clinical, genetic, and functional studies were performed in three kindreds from New Zealand, the United States, and Colombia. A diaphragmatic pacemaker was implanted in the proband from the Colombian family to treat her respiratory insufficiency. Dopaminergic therapy was initiated in probands from two families. RESULTS: Besides the probands, 17 symptomatic relatives from all families were identified. The cardinal signs of Perry syndrome were present in all three probands with symptomatic disease onset in their fifth or sixth decade of life. Parkinsonism was moderate with a partial response to dopaminergic treatment. All affected persons but two died of respiratory insufficiency. The proband from the Colombian family is alive most likely due to early diagnosis and implantation of a diaphragmatic pacemaker. Two-and-a-half-year follow-up examination has revealed that the diaphragmatic pacemaker is optimally functioning without any major complications. In the Colombian and US families, the DCTN1 p.G71R and in the New Zealand family the DCTN1 p.Y78C mutations were identified. In functional assays, both mutations altered microtubule binding consistent with a pathogenic role. CONCLUSIONS: Perry syndrome is a rare condition, but new cases are expected to be diagnosed worldwide. Early diagnosis prevents life-threatening acute respiratory failure. Diaphragmatic pacemakers should be considered as an effective symptomatic treatment option.


Asunto(s)
Hipoventilación/epidemiología , Hipoventilación/genética , Trastornos Parkinsonianos/epidemiología , Trastornos Parkinsonianos/genética , Colombia , Depresión/epidemiología , Depresión/genética , Depresión/terapia , Diafragma/cirugía , Complejo Dinactina , Electrodos Implantados , Femenino , Humanos , Hipoventilación/terapia , Masculino , Proteínas Asociadas a Microtúbulos/genética , Persona de Mediana Edad , Mutación , Nueva Zelanda , Trastornos Parkinsonianos/terapia , Linaje , Estados Unidos
10.
Eur J Neurosci ; 39(9): 1474-84, 2014 May.
Artículo en Inglés | MEDLINE | ID: mdl-24628951

RESUMEN

Subthalamic nucleus (STN) modulation is currently the gold standard in the treatment of Parkinson's disease (PD) cases refractory to medication. Cell transplantation is a tissue-restorative approach and is a promising strategy in the treatment of PD. One of the obstacles to overcome in cell therapy is the poor dopaminergic cell survival. Our experiment investigates the impact of a partial subthalamotomy prior to ventral mesencephalic (VM) embryonic cell transplantation on dopaminergic cell survival and functional outcome. Unilateral dopamine depletion was carried out in rats, via medial forebrain bundle (MFB) injection of 6-hydroxydopamine, and half of the animals went on to receive unilateral excitotoxic lesions of the STN/Zone Incerta (ZI) causing partial lesion of these structures on the same side as the MFB lesion. All MFB-lesioned animals, with or without the STN/ZI lesion, received striatal ipsilateral embryonic VM cell grafts. The data suggest that the STN/ZI lesion could boost the dopamine cell survival in the grafts by 2.6-fold compared with the control grafted-only group. Moreover, performance on the drug-induced rotation and the spontaneous behavior tests were ameliorated on the STN/ZI-lesioned group to a significantly greater extent than the grafted-only group. These data suggest that the STN/ZI partial lesion optimized the striatal environment, promoting an improvement in cell survival. Further studies are needed to see whether the synergy between STN modulation via deep brain stimulation and cell therapy might have clinical applications in the management of PD.


Asunto(s)
Cuerpo Estriado/cirugía , Neuronas Dopaminérgicas/trasplante , Trastornos Parkinsonianos/terapia , Recuperación de la Función , Núcleo Subtalámico/cirugía , Animales , Supervivencia Celular , Neuronas Dopaminérgicas/fisiología , Femenino , Actividad Motora , Trastornos Parkinsonianos/cirugía , Ratas , Ratas Sprague-Dawley
12.
J Neurochem ; 128(6): 829-40, 2014 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-24117434

RESUMEN

Müller cells constitute the main glial cell type in the retina where it interacts with virtually all cells displaying relevant functions to retinal physiology. Under appropriate stimuli, Müller cells may undergo dedifferentiation, being able to generate other neural cell types. Here, we show that purified mouse Müller cells in culture express a group of proteins related to the dopaminergic phenotype, including the nuclear receptor-related 1 protein, required for dopaminergic differentiation, as well the enzyme tyrosine hydroxylase. These dopaminergic components are active, since Müller cells are able to synthesize and release dopamine to the extracellular medium. Moreover, Müller-derived tyrosine hydroxylase can be regulated, increasing its activity because of phosphorylation of serine residues in response to agents that increase intracellular cAMP levels. These observations were extended to glial cells obtained from adult monkey retinas with essentially the same results. To address the potential use of dopaminergic Müller cells as a source of dopamine in cell therapy procedures, we used a mouse model of Parkinson's disease, in which mouse Müller cells with the dopaminergic phenotype were transplanted into the striatum of hemi-parkinsonian mice generated by unilateral injection of 6-hydroxydopamine. These cells fully decreased the apomorphine-induced rotational behavior and restored motor functions in these animals, as measured by the rotarod and the forelimb-use asymmetry (cylinder) tests. The data indicate local restoration of dopaminergic signaling in hemi-parkinsonian mice confirmed by measurement of striatal dopamine after Müller cell grafting.


Asunto(s)
Neuronas Dopaminérgicas/trasplante , Células Ependimogliales/trasplante , Trastornos Parkinsonianos/patología , Trastornos Parkinsonianos/terapia , Animales , Cebus , Diferenciación Celular/fisiología , Células Cultivadas , Cuerpo Estriado/citología , Cuerpo Estriado/fisiología , Modelos Animales de Enfermedad , Dopamina/metabolismo , Neuronas Dopaminérgicas/citología , Neuronas Dopaminérgicas/metabolismo , Células Ependimogliales/citología , Células Ependimogliales/metabolismo , Femenino , Ratones , Ratones Endogámicos C57BL , Ratones Transgénicos , Actividad Motora/fisiología , Miembro 2 del Grupo A de la Subfamilia 4 de Receptores Nucleares/metabolismo , Trastornos Parkinsonianos/metabolismo , Fosforilación/efectos de los fármacos , Fosforilación/fisiología , Recuperación de la Función/fisiología , Tirosina 3-Monooxigenasa/metabolismo
13.
Neuroscience ; 195: 100-11, 2011 Nov 10.
Artículo en Inglés | MEDLINE | ID: mdl-21871541

RESUMEN

Sustained motor improvement in human patients with idiopathic Parkinson's disease has been described following electroconvulsive shock (ECS) treatment. In rats, ECS stimulates the expression of various trophic factors (TFs), some of which have been proposed to exert neuroprotective actions. We previously reported that ECS protects the integrity of the rat nigrostriatal dopaminergic system against 6-hydroxydopamine (6-OHDA)-induced toxicity; in order to shed light into its neuroprotective mechanism, we studied glial cell-line derived neurotrophic factor (GDNF) levels (the most efficient TF for dopaminergic neurons) in the substantia nigra (SN) and striatum of 6-OHDA-injected animals with or without ECS treatment. 6-OHDA injection decreased GDNF levels in the SN control animals, but not in those receiving chronic ECS, suggesting that changes in GDNF expression may participate in the ECS neuroprotective mechanism. To evaluate this possibility, we inhibit GDNF by infusion of GDNF function blocking antibodies in the SN of 6-OHDA-injected animals treated with ECS (or sham ECS). Animals were sacrificed 7 days after 6-OHDA infusion, and the integrity of the nigrostriatal system was studied by tyrosine hydroxylase immunohistochemistry and Cresyl Violet staining. Neuroprotection observed in ECS-treated animals was inhibited by GDNF antibodies in the SN. These results robustly demonstrate that GDNF is essential for the ECS neuroprotective effect observed in 6-OHDA-injected animals.


Asunto(s)
Electrochoque , Factor Neurotrófico Derivado de la Línea Celular Glial/metabolismo , Trastornos Parkinsonianos/metabolismo , Trastornos Parkinsonianos/terapia , Animales , Supervivencia Celular , Terapia Electroconvulsiva , Inmunohistoquímica , Masculino , Neuronas/metabolismo , Ratas , Ratas Wistar
14.
Stem Cell Rev Rep ; 7(4): 1006-17, 2011 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-21503590

RESUMEN

Pre-clinical studies have supported the use of mesenchymal stem cells (MSC) to treat highly prevalent neurodegenerative diseases such as Parkinson's disease (PD) but preliminary trials have reported controversial results. In a rat model of PD induced by MPTP neurotoxin, we first observed a significant bilateral preservation of dopaminergic neurons in the substantia nigra and prevention of motor deficits typically observed in PD such as hypokinesia, catalepsy, and bradykinesia, following intracerebral administration of human umbilical cord-derived MSC (UC-MSC) early after MPTP injury. However, surprisingly, administration of fibroblasts, mesenchymal cells without stem cell properties, as a xenotransplantation control was highly detrimental, causing significant neurodegeneration and motor dysfunction independently of MPTP. This observation prompted us to further investigate the consequences of transplanting a MSC preparation contaminated with fibroblasts, a plausible circumstance in cell therapy since both cell types display similar immunophenotype and can be manipulated in vitro under the same conditions. Here we show for the first time, using the same experimental model and protocol, that transplantation of UC-MSC induced potent neuroprotection in the brain resulting in clinical benefit. However, co-transplantation of UC-MSC with fibroblasts reverted therapeutic efficacy and caused opposite damaging effects, significantly exacerbating neurodegeneration and motor deficits in MPTP-exposed rats. Besides providing a rationale for testing UC-MSC transplantation in early phases of PD aiming at delaying disease progression, our pre-clinical study suggests that fibroblasts may be common cell contaminants affecting purity of MSC preparations and clinical outcome in stem cell therapy protocols, which might also explain discrepant clinical results.


Asunto(s)
Fibroblastos/citología , Células Madre Mesenquimatosas/citología , Fármacos Neuroprotectores/uso terapéutico , Trastornos Parkinsonianos/patología , 1-Metil-4-fenil-1,2,3,6-Tetrahidropiridina/farmacología , Animales , Encéfalo/metabolismo , Encéfalo/patología , Neuronas Dopaminérgicas/metabolismo , Fibroblastos/metabolismo , Humanos , Inmunohistoquímica , Masculino , Trasplante de Células Madre Mesenquimatosas , Células Madre Mesenquimatosas/metabolismo , Modelos Animales , Trastornos Parkinsonianos/terapia , Ratas , Ratas Wistar , Trasplante Heterólogo , Cordón Umbilical/citología
15.
Montevideo; Udelar,FM; nov.2011. 60 p. (Programa de Educación y Rehabilitación en la Enfermedad de Parkinson para pacientes, familiares y cuidadores, Education and Rehabilitation Program in Parkinson's Disease patients, families and caregivers).
Monografía en Español | BVSNACUY | ID: bnu-17393
16.
Montevideo; Udelar; 4 ed; 2011. 60 p. (Programa de Educación y Rehabilitación en la Enfermedad de Parkinson para pacientes, familiares y cuidadores, Serie 4).
Monografía en Español | LILACS, BNUY, UY-BNMED | ID: lil-763464
17.
In. Matarama Peñate, Miguel; Llanio Navarro, Raimundo; Miñíz Iglesias, Pedro. Medicina interna. Diagnóstico y tratamiento. La Habana, Ecimed, 2005. .
Monografía en Español | CUMED | ID: cum-46879
18.
J Child Neurol ; 18(6): 429-32, 2003 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-12886981

RESUMEN

Huntington's disease is an autosomal dominant progressive neurodegenerative disorder characterized by involuntary movements, cognitive decline, and behavioral disorders leading to functional disability. In contrast to patients with adult onset, in which chorea is the major motor abnormality, children often present with spasticity, rigidity, and significant intellectual decline associated with a more rapidly progressive course. An unusual early-onset Huntington's disease case of an 11-year-old boy with severe hypokinetic/rigid syndrome appearing at the age of 2.5 years is presented. Clinical diagnosis was confirmed by polymerase chain reaction study of the expanded IT-15 allele with a compatible size of 102 cytosine-adenosine-guanosine repeats L-Dopa mildly ameliorated rigidity, bradykinesia, and dystonia. We conclude that Huntington's disease should be included in the differential diagnoses of regressive syndromes of early childhood.


Asunto(s)
Edad de Inicio , Discapacidades del Desarrollo/etiología , Enfermedad de Huntington/complicaciones , Enfermedad de Huntington/diagnóstico , Trastornos Parkinsonianos/etiología , Convulsiones/etiología , Niño , Discapacidades del Desarrollo/diagnóstico , Discapacidades del Desarrollo/terapia , Humanos , Enfermedad de Huntington/terapia , Masculino , Trastornos Parkinsonianos/diagnóstico , Trastornos Parkinsonianos/terapia , Convulsiones/diagnóstico , Convulsiones/terapia
19.
CNS Drugs ; 16(10): 663-8, 2002.
Artículo en Inglés | MEDLINE | ID: mdl-12269860

RESUMEN

Clinically relevant movement disorders are identified in 3% of patients with HIV infection seen at tertiary referral centres. In the same setting, prospective follow-up shows that 50% of patients with AIDS develop tremor, parkinsonism or other extrapyramidal features. Hemiballism-hemichorea and tremor are the most common hyperkinesias seen in patients who are HIV positive, but other movement disorders diagnosed in these patients include dystonia, chorea, myoclonus, tics, paroxysmal dyskinesias and parkinsonism. Patients with movement disorders usually present with other clinical features such as peripheral neuropathy, seizures, myelopathy and dementia. In the vast majority of patients, hyperkinesias result from lesions caused by opportunistic infections, particularly toxoplasmosis, which damage the basal ganglia connections. On the other hand, parkinsonism and tremor can result from dopaminergic dysfunction resulting from HIV itself or the use of antidopaminergic drugs. The management of patients who are HIV positive who present with movement disorders involves recognition and treatment of opportunistic infections, symptomatic treatment of the movement disorder and the use of highly active antiretroviral therapy (HAART). The most effective treatment of cerebral toxoplasmosis in patients with HIV infection is the combination of sulfadiazine and pyrimethamine. Symptomatic treatment of the movement disorder is often disappointing: hemiballism improves with antipsychotics, but tremor, parkinsonism and other phenomena usually fail to respond to available therapies. Preliminary data suggest that HAART may be helpful in the symptomatic control as well as prevention of movement disorders in patients who are HIV positive.


Asunto(s)
Infecciones por VIH/complicaciones , Trastornos del Movimiento , Infecciones Oportunistas Relacionadas con el SIDA/complicaciones , Humanos , Trastornos del Movimiento/epidemiología , Trastornos del Movimiento/etiología , Trastornos del Movimiento/terapia , Trastornos Parkinsonianos/epidemiología , Trastornos Parkinsonianos/etiología , Trastornos Parkinsonianos/terapia , Temblor/epidemiología , Temblor/etiología , Temblor/terapia
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