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Clinical neurophysiology for tremor: Common questions in clinical practice
(2024)
Petra Schwingenschuh
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Madelein Van der Stouwe
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Sanjay Pandey
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Stephanie Hirschbichler
;
Pattamon Panyakaew
Scopus© Citations 2 1
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Impacto de los trastornos motores del habla y deglución sobre lacalidad de vida de personas con enfermedad de Parkinson: una revisión sistemática de la literatura
(2023)
SEPULVEDA CONTARDO, MIGUEL FRANCISCO
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Gay-San Martín, Joaquín Emilio
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Vásquez-Peña, Diego Nicolás
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Obreque-Faundez, Pilar Valeria
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Roa-Bustos, Karen Camila
Scopus© Citations 2 4
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Novel utilization of deep brain stimulation in the pedunculopontine nucleus with globus pallidus internus for treatment of childhood-onset dystonia
(2023)
Jennifer A. MacLean
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Jaya Nataraj
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Jordan Davies
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Aleksandra Zakharova
;
Joshua Kurtz
<jats:sec><jats:title>Introduction</jats:title><jats:p>Deep brain stimulation (DBS) is a well-documented therapy for dystonia utilized in many adult and pediatric movement disorders. Pedunculopontine nucleus (PPN) has been investigated as a DBS target primarily in adult patients with dystonia or dyskinesias from Parkinson’s disease, showing improvement in postural instability and gait dysfunction. Due to the difficulty in targeting PPN using standard techniques, it is not commonly chosen as a target for adult or pediatric pathology. There is no current literature describing the targeting of PPN in DBS for childhood-onset dystonia.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>Two pediatric and one young adult patient with childhood-onset dystonia who underwent DBS implantation at our institution were identified. Patient 1 has Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration (MEPAN) syndrome. Patient 2 has Glutaric Aciduria Type 1 (GA1). Patient 3 has atypical pantothenate kinase-associated neurodegeneration (PKAN). PPN was identified as a potential target for these patients due to axial or orofacial dystonia. Pre- and post-operative videos taken as part of routine clinical assessments were evaluated and scored on the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) and Barry-Albright Dystonia Scale (BADS). All patients had permanent electrodes placed bilaterally in PPN and globus pallidus internus (GPi). A Likert scale on quality of life was also obtained from the patient/parents as applicable.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>Significant programming was necessary over the first 3–12 months to optimize patients’ response to stimulation. All patients experienced at least a 34% improvement in the BFMDRS score. Patients 2 and 3 also experienced an over 30% improvement in BADS score. All patients/parents appreciated improvement in quality of life postoperatively.</jats:p></jats:sec><jats:sec><jats:title>Discussion</jats:title><jats:p>Deep brain stimulation in PPN was safely and successfully used in two pediatric patients and one young adult patient with childhood-onset dystonia. These patients showed clinically significant improvements in BFMDRS scoring post operatively. This represents the first reported DBS targeting of PPN in pediatric patients, and suggests that PPN is a possible target for pediatric-onset dystonia with axial and orofacial symptoms that may be refractory to traditional pallidal stimulation alone.</jats:p></jats:sec>
1Scopus© Citations 7
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Glucocerebrosidase mutations disrupt the lysosome and now the mitochondria
(2023)
Andrés D. Klein
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Tiago Fleming Outeiro
1Scopus© Citations 19
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Epidemiology of Parkinson’s Disease in Chile
(2021)
VIAL UNDURRAGA, FELIPE AGUSTIN
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DELGADO BECERRA, OROZIMBA IRIS
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Francisca Canal
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IDIAQUEZ RIOS, JUAN FRANCISCO
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Pedro Chana-Cuevas
<jats:p>Introduction: Parkinson’s disease (PD) is one of the most common neurodegenerative disorders. There is no epidemiological description of PD in Chile and not many descriptions in Latin America. This study aims to describe the incidence and prevalence of PD in Chile. Methods: The study group was the population on the public health system in Chile between 2010 and 2018 that were registered in the GES system as having PD. Crude and standardized prevalence and incidence were calculated with a 95% confidence interval. Results: 33,345 patients were found in the register as confirmed cases with PD. The crude incidence in 2018 was 23.7/100,000; the crude prevalence in 2018 was 160.7/100,000. The male-to-female ratio was 1.03. Conclusion: The prevalence and incidence observed in the Chilean population are consistent with studies from other countries. </jats:p>
Scopus© Citations 8 114
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Inflammatory markers and BDNF in obstructive sleep apnea (OSA) in Parkinson's disease (PD)
(2022)
M. Kaminska
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M. O'Sullivan
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V.P. Mery
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A.L. Lafontaine
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A. Robinson
10Scopus© Citations 20
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Small molecules to perform big roles: The search for Parkinson's and Huntington's disease therapeutics
(2023)
Rodrigo Pérez-Arancibia
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Marisol Cisternas-Olmedo
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Denisse Sepúlveda
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Paulina Troncoso-Escudero
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Rene L. Vidal
<jats:p>Neurological motor disorders (NMDs) such as Parkinson's disease and Huntington's disease are characterized by the accumulation and aggregation of misfolded proteins that trigger cell death of specific neuronal populations in the central nervous system. Differential neuronal loss initiates the impaired motor control and cognitive function in the affected patients. Although major advances have been carried out to understand the molecular basis of these diseases, to date there are no treatments that can prevent, cure, or significantly delay the progression of the disease. In this context, strategies such as gene editing, cellular therapy, among others, have gained attention as they effectively reduce the load of toxic protein aggregates in different models of neurodegeneration. Nevertheless, these strategies are expensive and difficult to deliver into the patients' nervous system. Thus, small molecules and natural products that reduce protein aggregation levels are highly sought after. Numerous drug discovery efforts have analyzed large libraries of synthetic compounds for the treatment of different NMDs, with a few candidates reaching clinical trials. Moreover, the recognition of new druggable targets for NMDs has allowed the discovery of new small molecules that have demonstrated their efficacy in pre-clinical studies. It is also important to recognize the contribution of natural products to the discovery of new candidates that can prevent or cure NMDs. Additionally, the repurposing of drugs for the treatment of NMDs has gained huge attention as they have already been through clinical trials confirming their safety in humans, which can accelerate the development of new treatment. In this review, we will focus on the new advances in the discovery of small molecules for the treatment of Parkinson's and Huntington's disease. We will begin by discussing the available pharmacological treatments to modulate the progression of neurodegeneration and to alleviate the motor symptoms in these diseases. Then, we will analyze those small molecules that have reached or are currently under clinical trials, including natural products and repurposed drugs.</jats:p>
3Scopus© Citations 21
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Tremoroton, a new free online platform for tremor analysis
(2020)
VIAL UNDURRAGA, FELIPE AGUSTIN
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Patrick McGurrin
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Thomas Osterholt
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Debra Ehrlich
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Dietrich Haubenberger
Scopus© Citations 4 16
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Neurogenic Orthostatic Hypotension. Lessons From Synucleinopathies
(2020)
IDIAQUEZ RIOS, JUAN FRANCISCO
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IDIAQUEZ RIOS, JUAN FRANCISCO
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Juan Carlos Casar
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Italo Biaggioni
<jats:title>Abstract</jats:title> <jats:p>Maintenance of upright blood pressure critically depends on the autonomic nervous system and its failure leads to neurogenic orthostatic hypotension (NOH). The most severe cases are seen in neurodegenerative disorders caused by abnormal α-synuclein deposits: multiple system atrophy (MSA), Parkinson’s disease, Lewy body dementia, and pure autonomic failure (PAF). The development of novel treatments for NOH derives from research in these disorders. We provide a brief review of their underlying pathophysiology relevant to understand the rationale behind treatment options for NOH. The goal of treatment is not to normalize blood pressure but rather to improve quality of life and prevent syncope and falls by reducing symptoms of cerebral hypoperfusion. Patients not able to recognize NOH symptoms are at a higher risk for falls. The first step in the management of NOH is to educate patients on how to avoid high-risk situations and providers to identify medications that trigger or worsen NOH. Conservative countermeasures, including diet and compression garments, should always precede pharmacologic therapies. Volume expanders (fludrocortisone and desmopressin) should be used with caution. Drugs that enhance residual sympathetic tone (pyridostigmine and atomoxetine) are more effective in patients with mild disease and in MSA patients with spared postganglionic fibers. Norepinephrine replacement therapy (midodrine and droxidopa) is more effective in patients with neurodegeneration of peripheral noradrenergic fibers like PAF. NOH is often associated with other cardiovascular diseases, most notably supine hypertension, and treatment should be adapted to their presence.</jats:p>
Scopus© Citations 19 1
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Globus Pallidus Internus (GPi) Deep Brain Stimulation for Parkinson’s Disease: Expert Review and Commentary
(2020)
Ka Loong Kelvin Au
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Joshua K. Wong
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Takashi Tsuboi
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Robert S. Eisinger
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Kathryn Moore
1Scopus© Citations 62

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