Papers by Pedro J Garcia Ruiz
Human Genetics, 1994
Huntington's disease (HD) is a neurodegenerative and hereditary disease characterized by progress... more Huntington's disease (HD) is a neurodegenerative and hereditary disease characterized by progressive movement disorders and mental and behavioral abnormalities. The HD gene is an expanding and unstable trinucleotide repeat (CAG repeat sequences). We studied 77 individuals from 38 families with HD in an attempt to obtain information for genetic counselling and differential diagnosis. Our results indicate that individuals with more than 40 repeats will be affected by the disease, whereas those with fewer than 30 will be healthy. There can be some overlap between 30 and 40 repeats, and one should be careful when interpreting these results.
American Journal of Physical Medicine & Rehabilitation, 2011
The aim of this study was to determine the variables that improve spastic equinus foot caused by ... more The aim of this study was to determine the variables that improve spastic equinus foot caused by cerebral palsy when treated with botulinum toxin type A. We reviewed all patients treated for spastic equinus foot using botulinum toxin type A (Botox) in the triceps suralis during a 3 1/2-yr period and analyzed the results after the first injection. There were 117 patients (72 diplegic and 45 hemiplegic patients) and a total of 189 triceps suralis treated. Variables analyzed included age, total dose per session, total dose per kilogram for each session, total dose per triceps, triceps dose per kilogram, type of cerebral palsy, cognitive level, botulinum toxin dilution, and physiotherapy. Assessments of efficacy were done using a Global Assessment Scale rated independently by parents, therapists, and a neurologist; the Modified Ashworth Scale; and the Modified Physician Rating Koman scale. Improvement was observed in all scales (P < 0.001). The change of foot position during walking was the best parameter for measuring improvement. There was correlation between the grade of improvement and the dose per kilogram for each triceps suralis (P < 0.001). Patient age was inversely correlated with improvement (P = 0.043). Diplegic and hemiplegic patients improved similarly, but the hemiplegic patients required higher doses for each muscle (P < 0.001). The most effective dose for diplegic patients was 3-4 IU/kg for each triceps, compared with 4-6 IU/kg for hemiplegic patients. Different dilutions of Botox (100, 50, and 40 U/ml) resulted in similar outcomes. No better results were achieved when 2-3 sessions/wk of physiotherapy was added to a daily program of exercises at home to enhance foot dorsiflexion. The dose per kilogram of Botox injected into triceps suralis and the patient age influence the results. The most effective dose is different between diplegic and hemiplegic patients. The concentration of botulinum toxin type A does not play a significant role in the outcome.
Impulse control disorder in patients with Parkinson’s disease under dopamine agonist therapy: a m... more Impulse control disorder in patients with Parkinson’s disease under dopamine agonist therapy: a multicentre study
Revista de Neurología, 2018
Introduccion. La toxina botulinica de tipo A (TBA) ha supuesto una verdadera revolucion terapeuti... more Introduccion. La toxina botulinica de tipo A (TBA) ha supuesto una verdadera revolucion terapeutica en neurologia, y en la actualidad es el tratamiento rutinario en las distonias focales y la espasticidad. Objetivo. Plantear, revisar y responder cuestiones controvertidas en relacion con la neurofarmacologia de la TBA y su uso en las distonias en la practica clinica habitual. Desarrollo. Un grupo de expertos en trastornos del movimiento reviso una lista de temas controvertidos relacionados con la farmacologia de la TBA y su uso en las distonias. Revisamos la bibliografia e incluimos articulos relevantes especialmente en ingles, pero tambien, si su importancia lo merece, en castellano y en frances, hasta junio de 2016. El documento se estructuro como un cuestionario que incluyo las preguntas que podrian generar mayor controversia o duda. El borrador inicial del documento fue revisado por los miembros del panel y se realizaron las modificaciones necesarias hasta alcanzar el mayor grado de consenso. Incluimos preguntas sobre diferentes aspectos de la neurofarmacologia, especialmente el mecanismo de accion, la bioequivalencia de los diferentes preparados y la inmunogenicidad. En relacion con el subapartado de las distonias, se incluyeron aspectos sobre la evaluacion y el tratamiento de las distonias focales. Conclusiones. Esta revision no pretende ser una guia, sino una herramienta practica destinada a neurologos y medicos internos residentes interesados en esta area, dentro de diferentes ambitos especificos del manejo de la TBA.
European Journal of Neurology, 2020
Mutational spectrum of GNAL, THAP1 and TOR1A genes in isolated dystonia: study in a population fr... more Mutational spectrum of GNAL, THAP1 and TOR1A genes in isolated dystonia: study in a population from Spain and systematic literature review
European Journal of Neurology
This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-... more This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
The Lancet Neurology, 2019
Background Genome-wide association studies (GWAS) in Parkinson's disease have increased the scope... more Background Genome-wide association studies (GWAS) in Parkinson's disease have increased the scope of biological knowledge about the disease over the past decade. We aimed to use the largest aggregate of GWAS data to identify novel risk loci and gain further insight into the causes of Parkinson's disease. Methods We did a meta-analysis of 17 datasets from Parkinson's disease GWAS available from European ancestry samples to nominate novel loci for disease risk. These datasets incorporated all available data. We then used these data to estimate heritable risk and develop predictive models of this heritability. We also used large gene expression and methylation resources to examine possible functional consequences as well as tissue, cell type, and biological pathway enrichments for the identified risk factors. Additionally, we examined shared genetic risk between Parkinson's disease and other phenotypes of interest via genetic correlations followed by Mendelian randomisation.
Movement Disorders, 2017
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 doparesponsive 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.
Revista de neurologia, Jan 16, 2017
Spasticity is a medical problem with a high incidence that significantly impact on the quality of... more Spasticity is a medical problem with a high incidence that significantly impact on the quality of life of patients and their families. To analyze and to answer different questions about the use of botulinum toxin type A (BTA) in our clinical practice. A group of experts in neurology develop a list of topics related with the use of BTA. Two big groups were considered: spasticity in adults and in children with cerebral palsy. A literature search at PubMed for English, French, and Spanish language articles published up to June 2016 was performed. The manuscript was structured as a questionnaire that includes those questions that, according to the panel opinion, could generate more controversy or doubt. The initial draft was reviewed by the expert panel members to allow for modifications, and after subsequent revisions for achieving the highest degree of consensus, the final text was then validated. Different questions about diverse aspects of spasticity in adults, such as methods for e...
Parkinsonism & Related Disorders, 2015
Extensive published evidence supports the use of subcutaneously-administered apomorphine as an ef... more Extensive published evidence supports the use of subcutaneously-administered apomorphine as an effective therapy for Parkinson's disease (PD) but to date no consensus recommendations have been available to guide healthcare professionals in the optimal application of apomorphine therapy in clinical practice. This document outlines best-practice recommendations for selecting appropriate candidates for apomorphine intermittent injection (the pen-injection formulation) or apomorphine continuous
Brain, 2000
Recent studies have shown that progressive supranuclear palsy (PSP) could be inherited, but the p... more Recent studies have shown that progressive supranuclear palsy (PSP) could be inherited, but the pattern of inheritance and the spectrum of the clinical findings in relatives are unknown. We here report 12 pedigrees, confirmed by pathology in four probands, with familial PSP. Pathological diagnosis was confirmed according to recently reported internationally agreed criteria. The spectrum of the clinical phenotypes in these families was variable including 34 typical cases of PSP (12 probands plus 22 secondary cases), three patients with postural
Journal of the Neurological Sciences, 2016
The European Huntington's Disease Network (EHDN) commissioned an international task force to prov... more The European Huntington's Disease Network (EHDN) commissioned an international task force to provide global evidence-based recommendations for everyday clinical practice for treatment of Huntington's disease (HD). The objectives of such guidelines are to standardize pharmacological, surgical and non-pharmacological treatment regimen and improve care and quality of life of patients. A formalized consensus method, adapted from the French Health Authority recommendations was used. First, national committees (French and English Experts) reviewed all studies published between 1965 and 2015 included dealing with HD symptoms classified in motor, cognitive, psychiatric, and somatic categories. Quality grades were attributed to these studies based on levels of scientific evidence. Provisional recommendations were formulated based on the strength and the accumulation of scientific evidence available. When evidence was not available, recommendations were framed based on professional agreement. A European Steering committee supervised the writing of the final recommendations through a consensus process involving two rounds of online questionnaire completion with international multidisciplinary HD health professionals. Patients' associations were invited to review the guidelines including the HD symptoms. Two hundred and nineteen statements were retained in the final guidelines. We suggest to use this adapted method associating evidence base-medicine and expert consensus to other rare diseases.
Parkinsonism & related disorders, 2018
Impulse control disorders (ICDs) comprise abnormal behaviors frequently found in patients with Pa... more Impulse control disorders (ICDs) comprise abnormal behaviors frequently found in patients with Parkinson's disease (PD) receiving antiparkinsonian medication. ICDs in PD would develop when dopaminergic treatment overstimulates the dopamine receptor D3 (DR3). Here we studied whether DR3 gene (DRD3) is associated to ICD in PD patients with early-onset (EOPD). We performed association analysis of the rs6280 DRD3 single nucleotide variation (SNV) (Ser9Gly) in a clinical sample of 126 non early-onset PD (NEOPD) and 73 EOPD (age at onset < 45). ICD was evaluated using the Questionnaire for Impulsive-Compulsive Disorders (QUIP) in PD. In the total sample, we found that a younger onset of PD is linked to ICD traits with a potentially addictive reinforcement (ICDARs, behavioral addictions) (p = .017) and a trend for total ICDs (p = .078) while punding was not associated (p = .75). EOPD sample showed an increase of DRD3 C+ genotype for ICD (p = .022) and ICDARs (p = .043) but not for p...
Movement Disorders, 2008
Continuous subcutaneous apomorphine infusion (CSAI) is, at present, an alternative option for adv... more Continuous subcutaneous apomorphine infusion (CSAI) is, at present, an alternative option for advanced Parkinson's disease (PD) with motor fluctuations. We studied the evolution of patients with PD and severe motor fluctuations long-term treated with CSAI. We reviewed data from 82 patients with PD (mean age, 67 6 11.07; disease duration, 14.39 6 5.7 years) and severe motor fluctuations referred to 35 tertiary hospitals in Spain. These patients were long-term treated (for at least 3 months) with CSAI and tolerated the procedure without serious side effects. We compared the baseline data of these 82 patients (before CSAI) with those obtained from the last follow-up visit of each patient. The mean follow-up of CSAI was 19.93 6 16.3 months. Mean
Movement Disorders Clinical Practice, 2021
Electroconvulsive therapy (ECT) has been a very well known therapy in Psychiatry for over 80 year... more Electroconvulsive therapy (ECT) has been a very well known therapy in Psychiatry for over 80 years. ECT is considered useful in treating acute mania, severe depression and other psychiatric conditions. Over time, this therapy has also been used in several movement disorders including Parkinson disease (PD) and Huntington disease (HD). In this brief review, I summarize the recent History and evolution of ECT, its proven and potential applications in movement disorders as well as its potential mechanisms.
Journal of neurology, 2006
El Burgo de Osma (Soria, Spain) offers one of the best preserved medieval structures in Spain. Th... more El Burgo de Osma (Soria, Spain) offers one of the best preserved medieval structures in Spain. The interior of the building conserves abundant samples of Romanesque art, and the tomb in polychromatic stone of the founder, San Pedro de Osma. We have classified those pieces of art that could represent descriptions of movement disorders. In the main façade of the Cathedral, several statues representing prophets can be seen one of them is clearly different to the rest. This statue represents a man with abnormal cervical posture characterized by right rotation, head tilt and elevation of right shoulder. The tomb includes several statues representing fragments of the life of San Pedro de Osma. Some of these figures show movement disorders. First, a woman with a baby in her arms who has marked head tilt to the left. Second a peasant without hands, perhaps amputated, this man has a head tilt to the right. We suggest that in the latter case ergotism can explain both manifestations: periphera...
Journal of Neural Transmission
Botulinum toxin (BT) therapy is a complex and highly individualised therapy defined by treatment ... more Botulinum toxin (BT) therapy is a complex and highly individualised therapy defined by treatment algorithms and injection schemes describing its target muscles and their dosing. Various consensus guidelines have tried to standardise and to improve BT therapy. We wanted to update and improve consensus guidelines by: (1) Acknowledging recent advances of treatment algorithms. (2) Basing dosing tables on statistical analyses of real-life treatment data of 1831 BT injections in 36 different target muscles in 420 dystonia patients and 1593 BT injections in 31 different target muscles in 240 spasticity patients. (3) Providing more detailed dosing data including typical doses, dose variabilities, and dosing limits. (4) Including total doses and target muscle selections for typical clinical entities thus adapting dosing to different aetiologies and pathophysiologies. (5) In addition, providing a brief and concise review of the clinical entity treated together with general principles of its B...
Parkinsonism & Related Disorders
Impulse control disorder (ICD), including pathological gambling, hypersexuality, and compulsive s... more Impulse control disorder (ICD), including pathological gambling, hypersexuality, and compulsive shopping has been linked to dopaminergic treatment, especially treatment with dopamine agonists (DAs). However, patients with Parkinson's disease (PD) may experience enhanced creativity during DA therapy, often manifesting as newfound artistic pursuits. Though ICD is very well recognized in the literature, enhanced creativity remains underreported, probably because, unlike ICD, enhanced creativity is often positive and rarely disruptive for patients and relatives. We studied 21 patients (20 patients with PD and one patient with restless-legs syndrome) with enhanced creativity. These individuals engaged in artistic activities after dopaminergic treatment; all but one were treated with DA (pramipexole, 14/21; ropinirole, 4/21; rotigotine 2/21). Most patients preferred painting as their main activity, but many were engaged in several activities, usually in combination. We hypothesize that by facilitating a stimulating environment for parkinsonian patients, this positive phenomenon may present more frequently.
Uploads
Papers by Pedro J Garcia Ruiz