Analysis of deep brain stimulation of the subthalamic nucleus (STN-DBS) in patients with monogenic PRKN and LRRK2 forms of Parkinson's disease.

INTRODUCTION: Deep brain stimulation of the subthalamic nucleus (STN-DBS) is the most common surgical treatment for Parkinson's disease (PD). Patient selection and genetic background can modify the response to this treatment. The objective of this study was to compare both clinical and pharmacologic response of STN-DBS between patients with monogenic forms of PD and non-mutation carriers with idiopathic PD. METHODS: A retrospective analysis among 23 carriers of genetic mutations (8 PRKN and 15 LRRK2) and 74 patients with idiopathic PD was performed. The study included comparisons of Unified Parkinson's Disease Rating Scale (UPDRS) II and III scores, Schwab and England (S&E) scale values, Hoehn & Yahr (H&Y) stage scores, and equivalent doses of levodopa before and after the surgery (at 6 and 12 months) between both groups. RESULTS: The mean age at the time in which STN-DBS was performed was 59.5 ± 8.6. Linear mixed models showed the absence of statistically significant differences between mutation and non-mutation carriers regarding levodopa doses (p = 0.576), UPDRS II (p = 0.956) and III (p = 0.512) scores, and S&E scale scores (0.758). The only difference between the two groups was observed with respect to H&Y stage in OFF medication/ON stimulation status being lower in genetic PD at 6 months after surgery (p = 0.030). CONCLUSION: Clinical and pharmacological benefit of bilateral STN-DBS is similar in PRKN and LRRK2 mutation carriers and patients with idiopathic PD.

Edema cerebral idiopático de inicio tardío asociado a estimulación cerebral profunda / Idiopathic delayed-onset edema associated with deep brain stimulation

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Demencia frontotemporal asociada al cromosoma 17 y otros síndromes parkinsonianos asociados a demencia / Frontotemporal dementia associated to chromosome 17 and other Parkinsonian syndromes linked to dementia

Introducción. Dentro de los síndromes con deterioro cognitivo se hallan múltiples entidades que asocian parkinsonismo como síntoma acompañante a lo largo de su evolución. En ocasiones no se valoran los signos de patología extrapiramidal de forma adecuada, atribuyéndolos a efectos secundarios de la medicación o simplemente obviándolos si son leves y no causan incapacidad notable. Sin embargo, cuando aparecen es conveniente pensar en otras causas que los expliquen, replanteándose el diagnóstico inicial. Objetivo. Realizar un repaso breve de las entidades que presentan demencia como síntoma principal además de síndrome parkinsoniano en diferente medida. Desarrollo. Entre los síndromes con demencia y parkinsonismo asociado se encuentran numerosas patologías muy heterogéneas tanto en frecuencia como en etiología y pronóstico. Algunas son poco frecuentes, como las asociadas a mutaciones del cromosoma 17, y otras son tan comunes como la enfermedad de Alzheimer o la hidrocefalia normotensiva. También se incluyen procesos de diferente etiología: degenerativa, infecciosa, traumática, tóxica o metabólica, vascular, etc... que pueden, entre otros síntomas, presentar demencia y parkinsonismo. Conclusiones. Conocer dichas patologías nos puede ayudar a realizar un diagnóstico correcto, siempre deseable para tratar al paciente adecuadamente e informar de la forma más veraz a la familia sobre la evolución y pronóstico esperables (AU)

Introduction. Among the syndromes with cognitive impairment, there are a number of conditions that associate parkinsonism as an accompanying symptom throughout the whole of its development. On some occasions the signs of extrapyramidal pathology are not appraised properly and are attributed to secondary effects of the medication or are simply ignored if they are mild and do not cause any notable disability. When they do appear, however, it is wise to think about other causes that can explain them, reconsidering the initial diagnosis. Aims. To carry out a brief review of the conditions that present dementia as the main symptom, in addition to Parkinsonian syndrome, although to different extents. Development. Among the syndromes with dementia and parkinsonism associated to them, there are a number of pathologies that are very heterogeneous in terms of both their frequency and their causation and prognosis. Some of them are not very frequent, such as those associated to mutations of chromosome 17, and others are as common as Alzheimer's disease or normotensive hydrocephalus. They also include processes with different aetiologies (which can be degenerative, infectious, traumatic, toxic or metabolic, vascular, and so forth) that can present dementia and parkinsonism, among other symptoms. Conclusions. An understanding of such pathologies can help reach a correct diagnosis, which is fundamental to be able to treat the patient adequately and provide the family with information that is as accurate as possible about the expected development and prognosis (AU)

[The chronopathology of prion encephalopathies]. / Cronopatología de las encefalopatías priónicas.

INTRODUCTION: Prion encephalopathies are a group of diseases with a hereditary or acquired origin which, after a long asymptomatic period, give rise to rapidly progressing neurological disorders. This progression can only be explained by an exponential growth of the pathogenic protein load, which allows to keep the load in low levels for many years and then to grow swiftly in a few months. DEVELOPMENT: Bearing in mind the knowledge currently available about the pathogenesis of prion diseases and patients' clinical progression, it becomes possible to distinguish several different periods of progression, the length of which can be estimated for each disease by reviewing the series of cases published to date. In general, the infectious prion diseases have a shorter period of latency than the hereditary ones and those caused by insertion of genetic material are associated to shorter latencies and to longer periods of illness than those caused by sporadic mutations. CONCLUSIONS: The rate of growth of the prion load depends essentially on how fast the pathogenic prion protein replicates; nevertheless, this growth is also modulated by other factors, many of which are polymorphisms in certain positions on the gene coding for prion protein or in other genes.