Papers by andres de la cerda
Wilson Disease Presenting as Opsoclonus-Myoclonus Syndrome
Movement Disorder Emergencies, 2021
Exploring Levodopa-induced dyskinesia in Latin American Parkinson`s disease patients: Insights from the large-PD Consortium
Parkinsonism & related disorders (Online)/Parkinsonism & related disorders, May 1, 2024
Neurology, Oct 3, 2017
Friedreich-like pes cavus (A, B) and suggestive MRI findings: liner hypointensity on axial T2-wei... more Friedreich-like pes cavus (A, B) and suggestive MRI findings: liner hypointensity on axial T2-weighted brain MRI (classic abnormality) (C) and cerebellar anterosuperior vermal cerebellar atrophy (nonspecific; D).
Treatable inherited rare movement disorders
Movement Disorders
There are many rare movement disorders, and new ones are described every year. Because they are n... more There are many rare movement disorders, and new ones are described every year. Because they are not well recognized, they often go undiagnosed for long periods of time. However, early diagnosis is becoming increasingly important. Rapid advances in our understanding of the biological mechanisms responsible for many rare disorders have enabled the development of specific treatments for some of them. Well-known historical examples include Wilson disease and dopa-responsive dystonia, for which specific and highly effective treatments have life-altering effects. In recent years, similarly specific and effective treatments have been developed for more than 30 rare inherited movement disorders. These treatments include specific medications, dietary changes, avoidance or management of certain triggers, enzyme replacement therapy, and others. This list of treatable rare movement disorders is likely to grow during the next few years because a number of additional promising treatments are actively being developed or evaluated in clinical trials. © 2017 International Parkinson and Movement Disorder Society.
Dementia in Parkinson's disease
Journal of Neurology Supplement, 2007
Dementia in Parkinson's disease
Journal of Neurology
Dementia is a frequent complication of Parkinson's disease (PD), usually occurring late in th... more Dementia is a frequent complication of Parkinson's disease (PD), usually occurring late in the course of the illness. Clinically, dementia in PD often is characterized by an insidious onset and slowly progressive cognitive decline, with predominant dysexecutive syndrome accompanied by a variety of behavioral symptoms. The pathological substrate of dementia in PD is a matter of controversy. The common co-occurrence of alpha-synuclein and Alzheimer disease-type pathology suggests that both may play an important role. Dysfunction of different monoamine transmitters has also been implicated in the cognitive deterioration associated with PD but reduced cholinergic activity in the cortex is thought to account for the predominant mechanism in the development of dementia. Recent studies suggest that cholinesterase inhibitors might be useful in the treatment of dementia of PD.
Revista chilena de neuro-psiquiatría, 2012
Proyecto académico sin fines de lucro, desarrollado bajo la iniciativa de acceso abierto www.sone... more Proyecto académico sin fines de lucro, desarrollado bajo la iniciativa de acceso abierto www.sonepsyn.cl
Revista Chilena De Neuro Psiquiatria, Dec 1, 2012
Parkinson's disease (PD) is a progressive neurodegenerative disease with a high impact on individ... more Parkinson's disease (PD) is a progressive neurodegenerative disease with a high impact on individuals who experience it and their families. In 2010, the Chilean Health System included PD in the Health's explicit guarantees, and clinical guidelines were developed for the diagnosis and management of PD. We reviewed the guidelines for diagnosis and treatment of PD published in the literature worldwide, in order to adapt them to our country's reality from the perspective of a national group of experts.
Dementia in Parkinson's disease
Journal of Neurology, 2007
Dementia is a frequent complication of Parkinson's disease (PD), usually occurring late in the co... more Dementia is a frequent complication of Parkinson's disease (PD), usually occurring late in the course of the illness. Clinically, dementia in PD often is characterized by an insidious onset and slowly progressive cognitive decline, with predominant dysexecutive syndrome accompanied by a variety of behavioral symptoms. The pathological substrate of dementia in PD is a matter of controversy. The common co-occurrence of alpha-synuclein and Alzheimer disease-type pathology suggests that both may play an important role. Dysfunction of different monoamine transmitters has also been implicated in the cognitive deterioration associated with PD but reduced cholinergic activity in the cortex is thought to account for the predominant mechanism in the development of dementia. Recent studies suggest that cholinesterase inhibitors might be useful in the treatment of dementia of PD.
Journal of Neurology, 2011
Reduced uptake of 123I- metaiodobenzylguanidine (MIBG) on cardiac gammagraphy and impaired odor i... more Reduced uptake of 123I- metaiodobenzylguanidine (MIBG) on cardiac gammagraphy and impaired odor identification are markers of neurodegenerative diseases with Lewy bodies (LB) as a pathological hallmark, such as idiopathic Parkinson’s disease (IPD). LRRK2 patients present with a clinical syndrome indistinguishable from IPD, but LB have not been found in some cases. Patients with such mutations could behave differently than patients with IPD with respect to MIBG cardiac uptake and olfaction. We studied 14 LRRK2 patients, 14 IPD patients matched by age, gender, disease duration and severity, and 13 age and gender matched control subjects. Olfaction was analyzed through the University of Pennsylvania Smell Identification Test (UPSIT). MIBG cardiac uptake was evaluated through the H/M ratio. The late H/M was 1.44 ± 0.31 for LRRK2 patients, 1.19 ± 0.15 for PD patients, and 1.67 ± 0.16 for control subjects. LRRK2 patients presented lower but not statistically significant MIBG cardiac uptake than controls (p = 0.08) and significant higher uptake than PD patients (p = 0.04). UPSIT mean scores were 21.5 ± 7.3 for LRRK2 patients, 18.7 ± 6.2 for IPD patients and 29.7 ± 5.7 for control subjects. UPSIT score was lower in both LRRK2 and PD than in controls. In LRRK2 patients a positive correlation was found between myocardial MIBG uptake and UPSIT scores, (R = 0.801, p
Diagnostic cutoff points for 123 I-MIBG myocardial scintigraphy in a Caucasian population with Parkinson’s disease
European Journal of Nuclear Medicine and Molecular Imaging, 2011
Purpose Molecular imaging with 123I-metaiodobenzylguanidine (MIBG) has been used in Parkinson’s d... more Purpose Molecular imaging with 123I-metaiodobenzylguanidine (MIBG) has been used in Parkinson’s disease (PD), but there is no consensual index to discriminate between normal and PD patients in the Caucasian population. The purpose of this study was to determine diagnostic cutoff points in the quantification of MIBG cardiac uptake in our population of PD patients. We have also calculated the reproducibility over a range of interpretation expertise. Methods The study included 14 PD patients and 14 normal age- and sex-matched controls. Heart to mediastinum ratios (H/M) were calculated at 15 min (H/M15m) and 4 h (H/M4h) post-injection by three observers with different interpretation expertise, one of whom drew the regions of interest at three different times. The intraobserver and interobserver reliability was calculated (interclass correlation coefficient and coefficient of variability). Diagnosis was estimated by maximizing the Youden index for H/M and washout ratios. Discrimination ability was assessed by the area under the curve (AUC). Sensitivity and specificity were reported, using our thresholds. Results The parameter with the best diagnostic accuracy was the H/M4h ratio, with a major AUC (0.976 area under the receiver-operating characteristic curve). The threshold was 1.43 with a 95% confidence interval of 1.37–1.50. Using this threshold, the sensitivity and specificity were 93 and 100%. The interobserver and intraobserver variabilities measuring this ratio were 3.2 and 3.1%, respectively. Conclusion The diagnostic cutoff point for 123I-MIBG myocardial scintigraphy in a Caucasian population with PD was 1.43 for the H/M4h index, with a good sensitivity and specificity. The technique is easy to use, with a good reproducibility over a range of interpretation expertise.
Neuroscience, 2001
AbstractÐThe postsynaptic density is a highly dynamic structure, which is reorganized in an activ... more AbstractÐThe postsynaptic density is a highly dynamic structure, which is reorganized in an activity-dependent manner. An animal model for temporal lobe epilepsy, i.e. kainate-induced limbic seizures in rats, was used to study changes in postsynaptic density composition after extensive synaptic activity. Six hours after kainate injection, the protein content of the postsynaptic density fractions from rats that developed strong seizures was increased three-fold compared to salinetreated controls. Immunoblot analysis revealed that the relative amounts of metabotropic glutamate receptor 1a, N-ethylmaleimide-sensitive fusion protein, protein kinases C, Fyn and TrkB, as well as the neuronal nitric oxide synthase, were signi®cantly higher in seizure-developing than in control rats. In contrast, the relative contents of the kainate receptor KA2 subunit, b-actin, a-adducin and the membrane-associated guanylate kinase homolog SAP90/PSD-95 were decreased. The relative amounts of additional postsynaptic density proteins, including a-amino-3-hydroxy-5-methyl-4-isoxazolepropionate and N-methyl-d-aspartate receptor subunits, calcium/calmodulin-dependent kinase type II, casein kinase 2, tubulin, microtubule-associated protein 2B, the membrane-associated guanylate kinase homolog SAP102, and proline-rich synapseassociated protein 1/cortactin binding protein 1/Shank2 remained essentially unchanged. To assess possible changes in postsynaptic performance, postsynaptic densities were isolated from control and epileptic rats, incorporated into giant liposomes and N-methyl-d-aspartate receptor currents were recorded. A signi®cant reduction in the mean conductance was observed in patches containing postsynaptic densities from animals with high seizure activity. This was due to the presence of reduced conductance levels in each membrane patch compared to control postsynaptic density preparations.
Neuroscience, 2001
AbstractÐThe postsynaptic density is a highly dynamic structure, which is reorganized in an activ... more AbstractÐThe postsynaptic density is a highly dynamic structure, which is reorganized in an activity-dependent manner. An animal model for temporal lobe epilepsy, i.e. kainate-induced limbic seizures in rats, was used to study changes in postsynaptic density composition after extensive synaptic activity. Six hours after kainate injection, the protein content of the postsynaptic density fractions from rats that developed strong seizures was increased three-fold compared to salinetreated controls. Immunoblot analysis revealed that the relative amounts of metabotropic glutamate receptor 1a, N-ethylmaleimide-sensitive fusion protein, protein kinases C, Fyn and TrkB, as well as the neuronal nitric oxide synthase, were signi®cantly higher in seizure-developing than in control rats. In contrast, the relative contents of the kainate receptor KA2 subunit, b-actin, a-adducin and the membrane-associated guanylate kinase homolog SAP90/PSD-95 were decreased. The relative amounts of additional postsynaptic density proteins, including a-amino-3-hydroxy-5-methyl-4-isoxazolepropionate and N-methyl-d-aspartate receptor subunits, calcium/calmodulin-dependent kinase type II, casein kinase 2, tubulin, microtubule-associated protein 2B, the membrane-associated guanylate kinase homolog SAP102, and proline-rich synapseassociated protein 1/cortactin binding protein 1/Shank2 remained essentially unchanged. To assess possible changes in postsynaptic performance, postsynaptic densities were isolated from control and epileptic rats, incorporated into giant liposomes and N-methyl-d-aspartate receptor currents were recorded. A signi®cant reduction in the mean conductance was observed in patches containing postsynaptic densities from animals with high seizure activity. This was due to the presence of reduced conductance levels in each membrane patch compared to control postsynaptic density preparations.
Uploads
Papers by andres de la cerda