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1.
Mov Disord ; 2024 Sep 17.
Artículo en Inglés | MEDLINE | ID: mdl-39287592

RESUMEN

BACKGROUND: Despite considerable heritability, previous smaller genome-wide association studies (GWASs) have not identified any robust genetic risk factors for isolated dystonia. OBJECTIVE: The objective of this study was to perform a large-scale GWAS in a well-characterized, multicenter sample of >6000 individuals to identify genetic risk factors for isolated dystonia. METHODS: Array-based GWASs were performed on autosomes for 4303 dystonia participants and 2362 healthy control subjects of European ancestry with subgroup analysis based on age at onset, affected body regions, and a newly developed clinical score. Another 736 individuals were used for validation. RESULTS: This GWAS identified no common genome-wide significant loci that could be replicated despite sufficient power to detect meaningful effects. Power analyses imply that the effects of individual variants are likely very small. CONCLUSIONS: Moderate single-nucleotide polymorphism-based heritability indicates that common variants do not contribute to isolated dystonia in this cohort. Sequence-based GWASs (eg, by whole-genome sequencing) might help to better understand the genetic basis. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

2.
medRxiv ; 2024 Aug 26.
Artículo en Inglés | MEDLINE | ID: mdl-39252905

RESUMEN

Background: Motor and non-motor fluctuations adversely impact quality of life in Parkinson's disease (PD). Dysautonomia, a feature frequently associated with PD and a possible adverse effect of dopaminergic therapy, may be comorbid with fluctuations. Objectives: We sought to evaluate the effect of dysautonomia on motor and non-motor fluctuations in PD. Methods: Two hundred subjects with PD were evaluated in both "on" and "off" dopamine states to assess changes in symptoms related to dopaminergic fluctuations. Multivariable logistic regression was performed to assess the association of dysautonomia with motor, cognitive, and psychiatric worsening from ON to OFF states with adjustment for disease duration, levodopa equivalent daily dosage (LEDD), and dopamine agonist LEDD. Results: Subjects with dysautonomia had greater odds of clinically meaningful change in motor features (OR 3.0), cognition (OR 3.4) and anxiety (OR 4.3) compared to those without dysautonomia. Conclusions: Dysautonomia may be a contributory mechanism behind fluctuations in PD. The exact nature of this relationship deserves further evaluation.

3.
J Neurol Sci ; 463: 123144, 2024 Aug 15.
Artículo en Inglés | MEDLINE | ID: mdl-39033737

RESUMEN

INTRODUCTION: Smartphone applications (apps) are instruments that assist with objective measurements during the clinical assessment of patients with movement disorders. We aim to test the hypothesis that Parkinson's disease (PD) patients will exhibit an increase in tapping variability and a decrease in tapping speed over a one-year period, compared to healthy controls (HC). METHODS: Data was prospectively collected from participants enrolled in our Cincinnati Cohort Biomarker Program, in 2021-2023. Participants diagnosed with PD and age-matched HC were examined over a one-year-interval with a tapping test performed with customized smartphone app. Tapping speed (taps/s), inter-tap intervals and variability (movement regularity), and sequence effect were measured. RESULTS: We included 295 PD patients and 62 HC. At baseline, PD subjects showed higher inter-tap variability than HC (coefficient-of-variation-CV, 37 ms [22-64] vs 26 ms [8-51]) (p = 0.007). Conversely, there was no difference in inter-tap intervals (411 ms [199-593] in PD versus 478 ms [243-618] in HC) and tapping speed (3.42[2.70-4.76] taps/s in PD versus 3.21 taps/s [2.57-4.54] in HC) (p > 0.05). Only PD subjects (n = 135), at the one-year follow-up, showed a decreased tapping speed vs baseline (3.44 taps/s [2.86-4.81] versus 3.39 taps/s [2.58,4.30]) (p = 0.036), without significant changes in inter-tap variability (CV, 32 ms [18,55] baseline versus 34 ms [22,59] follow-up) (p = 0.142). No changes were found in HC at the one-year follow up (all p values>0.05). CONCLUSIONS: Inter-tap variability (dysrhythmia) but no inter-tap intervals or tapping speed are reliably distinctive feature of an app-based bradykinesia assessment in PD.


Asunto(s)
Aplicaciones Móviles , Enfermedad de Parkinson , Teléfono Inteligente , Humanos , Enfermedad de Parkinson/fisiopatología , Enfermedad de Parkinson/diagnóstico , Enfermedad de Parkinson/complicaciones , Masculino , Femenino , Anciano , Persona de Mediana Edad , Estudios Prospectivos
4.
Mov Disord Clin Pract ; 11(8): 973-982, 2024 08.
Artículo en Inglés | MEDLINE | ID: mdl-38778444

RESUMEN

BACKGROUND: Prior studies have indicated that female individuals outnumber male individuals for certain types of dystonia. Few studies have addressed factors impacting these sex differences or their potential biological mechanisms. OBJECTIVES: To evaluate factors underlying sex differences in the dystonias and explore potential mechanisms for these differences. METHODS: Data from individuals with various types of dystonia were analyzed in relation to sex. Data came from two different sources. One source was the Dystonia Coalition database, which contains predominantly idiopathic adult-onset focal and segmental dystonias. The second source was the MDSGene database, which contains predominantly early-onset monogenic dystonias. RESULTS: The 3222 individuals from the Dystonia Coalition included 71% female participants and 29% male participants for an overall female-to-male ratio (F:M) of 2.4. This ratio varied according to body region affected and whether dystonia was task-specific. The female predominance was age-dependent. Sex did not have a significant impact on co-existing tremor, geste antagoniste, depression or anxiety. In the 1377 individuals from the MDSGene database, female participants outnumbered male participants for some genes (GNAL, GCH1, and ANO3) but not for other genes (THAP1, TH, and TOR1A). CONCLUSIONS: These results are in keeping with prior studies that have indicated female individuals outnumber male individuals for both adult-onset idiopathic and early onset monogenic dystonias. These results extend prior observations by revealing that sex ratios depend on the type of dystonia, age, and underlying genetics.


Asunto(s)
Distonía , Humanos , Femenino , Masculino , Adulto , Persona de Mediana Edad , Distonía/genética , Caracteres Sexuales , Trastornos Distónicos/genética , Trastornos Distónicos/fisiopatología , Trastornos Distónicos/epidemiología , Adulto Joven , Anoctaminas/genética , Anciano , Adolescente , Proteínas Reguladoras de la Apoptosis/genética , Factores Sexuales , Proteínas Nucleares/genética , Niño , Proteínas de Unión al ADN , Chaperonas Moleculares
5.
Mov Disord Clin Pract ; 11(8): 1008-1012, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38747154

RESUMEN

BACKGROUND: Anxiety may precede motor symptoms in cervical dystonia (CD) and is associated with an earlier onset of dystonia. Our understanding of anxiety in CD is inadequate. OBJECTIVE: To investigate brain networks associated with anxiety in CD. METHODS: Twenty-six subjects with idiopathic CD underwent MRI Brain without contrast. Correlational tractography was derived using Diffusion MRI connectometry. Quantitative Anisotropy (QA) was used in deterministic diffusion fiber tracking. Correlational tractography was then used to correlate QA with State-Trait Anxiety Inventory (STAI) state (STAI-S) and trait (STAI-T) subscales. RESULTS: Connectometry analysis showed direct correlation between state anxiety and QA in tracts from amygdala to thalamus/ pulvinar bilaterally, and trait anxiety and QA in tracts from amygdala to motor cortex, sensorimotor cortex and parietal association area bilaterally (FDR ≤0.05). CONCLUSION: Our efforts to map anxiety to brain networks in CD highlight the role of the amygdala in the pathophysiology of anxiety in CD.


Asunto(s)
Ansiedad , Tortícolis , Humanos , Tortícolis/diagnóstico por imagen , Tortícolis/psicología , Tortícolis/fisiopatología , Masculino , Femenino , Ansiedad/diagnóstico por imagen , Ansiedad/fisiopatología , Ansiedad/psicología , Persona de Mediana Edad , Adulto , Encéfalo/diagnóstico por imagen , Encéfalo/patología , Encéfalo/fisiopatología , Imagen de Difusión Tensora , Anciano , Amígdala del Cerebelo/diagnóstico por imagen , Amígdala del Cerebelo/fisiopatología , Amígdala del Cerebelo/patología , Imagen por Resonancia Magnética
6.
Parkinsonism Relat Disord ; 126: 106042, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-38365523

RESUMEN

The Parkinson Study Group (PSG) gathered North American experts in Parkinson disease during the 9th Annual Symposium on "Shaping the Management of Parkinson Disease: Debating Current Controversies". Debaters were tasked with agree or disagree positions to a particular prompt. This is the first in three-part series of "Hype vs. Hope" debates involving current trends and advances in Parkinson disease. With the prompt of "Spreading alpha-synuclein explains cognitive deficits in Parkinson disease," Dr. Kelly Mills, MD, MHS was tasked with the "agree" stance and Dr. Abhimanyu Mahajan, MD, MHS was tasked with the "disagree" stance. The following point-of-view article is an adaptation of this debate.


Asunto(s)
Disfunción Cognitiva , Enfermedad de Parkinson , alfa-Sinucleína , Humanos , alfa-Sinucleína/metabolismo , Disfunción Cognitiva/etiología , Disfunción Cognitiva/metabolismo , Disfunción Cognitiva/fisiopatología , Enfermedad de Parkinson/complicaciones , Enfermedad de Parkinson/metabolismo , Enfermedad de Parkinson/fisiopatología
7.
Brain Sci ; 14(2)2024 Jan 31.
Artículo en Inglés | MEDLINE | ID: mdl-38391726

RESUMEN

Animal models have been used to gain pathophysiologic insights into Parkinson's disease (PD) and aid in the translational efforts of interventions with therapeutic potential in human clinical trials. However, no disease-modifying therapy for PD has successfully emerged from model predictions. These translational disappointments warrant a reappraisal of the types of preclinical questions asked of animal models. Besides the limitations of experimental designs, the one-size convergence and oversimplification yielded by a model cannot recapitulate the molecular diversity within and between PD patients. Here, we compare the strengths and pitfalls of different models, review the discrepancies between animal and human data on similar pathologic and molecular mechanisms, assess the potential of organoids as novel modeling tools, and evaluate the types of questions for which models can guide and misguide. We propose that animal models may be of greatest utility in the evaluation of molecular mechanisms, neural pathways, drug toxicity, and safety but can be unreliable or misleading when used to generate pathophysiologic hypotheses or predict therapeutic efficacy for compounds with potential neuroprotective effects in humans. To enhance the translational disease-modification potential, the modeling must reflect the biology not of a diseased population but of subtypes of diseased humans to distinguish What data are relevant and to Whom.

8.
Neurology ; 102(2): e208034, 2024 01 23.
Artículo en Inglés | MEDLINE | ID: mdl-38165344

RESUMEN

Most graduating neurology residents plan to pursue an academic career after completing residency or fellowship training. Although a career in academic neurology has many benefits, the path to finding the right first academic job can be challenging. For many, this may be their first professional job, and finding an ideal academic position requires a tailored approach, focus, timeline, and scope. In this article, we outline a roadmap for navigating the first academic job search after neurology training and share pearls and pitfalls related to the job search.


Asunto(s)
Internado y Residencia , Neurología , Humanos , Becas
9.
Mov Disord Clin Pract ; 10(12): 1777-1786, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-38094647

RESUMEN

Background: There are several widely used clinical rating scales for documenting the severity and distribution of various types of dystonia. Objectives: The goal of this study was to evaluate the performance of the most commonly used scales in a large group of adults with the most common types of isolated dystonia. Methods: Global Dystonia Rating Scale (GDRS) and the Burke-Fahn-Marsden Dystonia Rating Scale (BFM) scores were obtained for 3067 participants. Most had focal or segmental dystonia, with smaller numbers of multifocal or generalized dystonia. These scales were also compared for 209 adults with cervical dystonia that had Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) scores and 210 adults with blepharospasm that had Blepharospasm Severity Scale (BSRS) scores. Results: There were strong correlations between the GDRS and BFM total scores (r = 0.79) and moderate correlations for their sub scores (r > 0.5). Scores for both scales showed positive skew, with an overabundance of low scores. BFM sub-scores were not normally distributed, due to artifacts caused by the provoking factor. Relevant sub-scores of the GDRS and BFM also showed moderate correlations with the TWSTRS (r > 0.5) for cervical dystonia and the BSRS (r > 0.5) for blepharospasm. Conclusions: The BFM is more widely used than the GDRS, but these results suggest the GDRS may be preferable for focal and segmental dystonias. The overabundance of very low scores for both scales highlights challenges associated with discriminating very mild dystonia from other abnormal movements or variants of normal behavior.

10.
Mov Disord Clin Pract ; 10(11): 1666-1670, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-37982111

RESUMEN

Background: Sensory tricks (STs) are voluntary maneuvers that dampen the abnormal movement in cervical dystonia (CD). Objectives: To investigate the effect of ST on CD severity and treatment. Methods: Data on 1039 individuals with a modified Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) score were extracted from the CD Patient Registry for Observation of OnabotulinumtoxinA (onabotA) Efficacy study. Univariate and multivariate models evaluated the direct and indirect impact of ST on CD severity and treatment, while controlling for confounds. Results: Complete ST was associated with a 10% lower mean onabotA dose. Absence of complete ST was associated with a higher onabotA dose after controlling for dystonia severity (OR = 1.37, P = 0.04). ST moderated the relationship between dystonia severity and toxin dose (ß = -0.16, P = 0.02). Conclusions: ST is related to lower CD severity and toxin dose. It may have a direct effect on lowering toxin dose, independent of CD severity.

11.
Parkinsonism Relat Disord ; 114: 105792, 2023 09.
Artículo en Inglés | MEDLINE | ID: mdl-37540934

RESUMEN

INTRODUCTION: Anxiety is present in 30-40% of patients with cervical dystonia (CD). It has been ascribed to a direct effect of the state of motor symptoms on related pain, disability, and disfigurement. Accordingly, any reported benefit of botulinum toxin (BoNT) on anxiety is thought to be secondary to its effect on the same. We sought to evaluate the distinctive impact of botulinum toxin (BoNT) on anxiety in cervical dystonia (CD). METHODS: In this prospective observational study, 60 participants with idiopathic isolated CD were recruited from clinic. We assessed motor and anxiety burden using Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) parts I-III and State-Trait Anxiety Inventory (STAI). Assessments were done at time of BoNT (baseline) and at 6 weeks post-injection. RESULTS: STAI and motor severity TWSTRS scores poorly correlated at the baseline visit (rho = -0.30, p = 0.411). Both, motor TWSTRS (Mdifference = -1.46, p < 0.024) and STAI (Mdifference = -10.37, p = 0.007) improved from baseline to 6 weeks (peak effect). The change in motor TWSTRS poorly correlated with change in anxiety scores from baseline visit to 6 weeks (rho = -0.14, p > 0.999). Of these measures of anxiety, improvement in STAI-T had the largest effect size (rank biserial = 0.52). CONCLUSION: BoNT improves both motor severity and anxiety in CD. Poor correlation between motor severity and anxiety at both the time of injection and during the time of peak effect, and improvement in trait anxiety suggests that BoNT has a direct beneficial effect on anxiety.


Asunto(s)
Toxinas Botulínicas Tipo A , Fármacos Neuromusculares , Tortícolis , Humanos , Toxinas Botulínicas Tipo A/farmacología , Toxinas Botulínicas Tipo A/uso terapéutico , Tortícolis/complicaciones , Estudios Prospectivos , Fármacos Neuromusculares/farmacología , Fármacos Neuromusculares/uso terapéutico , Ansiedad/tratamiento farmacológico , Ansiedad/etiología , Resultado del Tratamiento
12.
J Neurol Sci ; 452: 120767, 2023 09 15.
Artículo en Inglés | MEDLINE | ID: mdl-37619327

RESUMEN

INTRODUCTION: The neuroanatomical structures implicated in olfactory and emotional processing overlap significantly. Our understanding of the relationship between hyposmia and apathy, common manifestations of early Parkinson's disease (PD), is inadequate. MATERIALS AND METHODS: We analyzed data on 40 patients with early de-novo idiopathic PD enrolled within 2 years of motor symptom onset in the Parkinson's Progression Markers Initiative (PPMI) study. To be included in the analysis, patients must have smell dysfunction but no apathy at the baseline visit and had completed a diffusion MRI (dMRI) at the baseline visit and at the 48-month follow-up visit. We used the FMRIB Software Library's diffusion tool kit to measure fractional anisotropy (FA) in six regions of interest on dMRI: bilateral anterior corona radiata, left cingulum, left superior corona radiata, genu and body of the corpus callosum. We compared the FA in each region from the dMRI done at the beginning of the study with the follow up studies at 4 years. RESULTS: We found a significant decrease of FA at the bilateral anterior corona radiata, and the genu and body of the corpus callosum comparing baseline scans with follow up images at 4-years after starting the study. CONCLUSION: Structural connectivity changes associated with apathy can be seen early in PD patients with smell dysfunction.


Asunto(s)
Apatía , Trastornos del Olfato , Enfermedad de Parkinson , Humanos , Anosmia , Enfermedad de Parkinson/complicaciones , Enfermedad de Parkinson/diagnóstico por imagen , Encéfalo/diagnóstico por imagen , Trastornos del Olfato/diagnóstico por imagen , Trastornos del Olfato/etiología
13.
Adv Neurobiol ; 31: 141-155, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37338700

RESUMEN

Magnetoencephalography (MEG) detects synchronized activity within a neuronal network by measuring the magnetic field changes generated by intracellular current flow. Using MEG data, we can quantify brain region networks with similar frequency, phase, or amplitude of activity and thereby identify patterns of functional connectivity seen with specific disorders or disease states. In this review, we examine and summarize MEG-based literature on functional networks in dystonias. Specifically, we inspect literature evaluating the pathogenesis of focal hand dystonia, cervical dystonia, embouchure dystonia, the effects of sensory tricks, treatment with botulinum toxin and deep brain stimulation, and rehabilitation approaches. This review additionally highlights how MEG has potential for application to clinical care of patients with dystonia.


Asunto(s)
Distonía , Trastornos Distónicos , Humanos , Magnetoencefalografía/métodos , Encéfalo/diagnóstico por imagen
14.
Parkinsonism Relat Disord ; 109: 105354, 2023 04.
Artículo en Inglés | MEDLINE | ID: mdl-36863114

RESUMEN

OBJECTIVE: To assess the effect of Parkinson's disease (PD) on perioperative outcomes following gynecologic surgery. BACKGROUND: Gynecological complaints are common among women with PD but under-reported, under-diagnosed and under-treated, in part due to surgical hesitancy. Non-surgical management options are not always acceptable to patients. Advanced gynecologic surgeries are effective for symptom management. Hesitancy toward elective surgery in PD stems from concern regarding perioperative risks. METHODS: This retrospective cohort study derived data by querying the Nationwide Inpatient Sample (NIS) database between 2012 and 2016 to identify women who underwent advanced gynecologic surgery. Non-parametric Mann-Whitney U and Fisher exact tests were used to compare quantitative and categorical variables respectively. Age and Charlson Comorbidity Index values were used to create matched cohorts. RESULTS: 526 (0.1%) women with and 404,758 without a diagnosis of PD underwent gynecological surgery. Median age of patients with PD (70 years vs 44 years, p < 0.001) and median comorbid conditions (4 vs 0, p < 0.001) were higher compared to counterparts. Median length of stay (LOS) was longer in PD group (3 days vs 2 days, p < 0.001) with lower rates of routine discharge (58% vs 92%, p = 0.001). Groups were comparable in post-operative mortality (0.8% vs 0.3%, p = 0.076). After matching, there was no difference in LOS (p = 0.346) or mortality (0.8% vs 1.5%, p = 0.385) and PD group was more likely to be discharged to skilled nursing facilities. CONCLUSION: PD does not worsen perioperative outcomes following gynecologic surgery. Neurologists may use this information to provide reassurance to women with PD undergoing such procedures.


Asunto(s)
Enfermedad de Parkinson , Humanos , Femenino , Anciano , Masculino , Estudios Retrospectivos , Enfermedad de Parkinson/complicaciones , Enfermedad de Parkinson/cirugía , Complicaciones Posoperatorias/epidemiología , Complicaciones Posoperatorias/etiología , Tiempo de Internación , Procedimientos Quirúrgicos Ginecológicos/métodos
15.
Semin Neurol ; 43(1): 156-165, 2023 02.
Artículo en Inglés | MEDLINE | ID: mdl-36913973

RESUMEN

The approach and diagnosis of patients with tremor may be challenging for clinicians. According to the most recent consensus statement by the Task Force on Tremor of the International Parkinson Movement Disorder Society, the differentiation between action (i.e., kinetic, postural, intention), resting, and other task- and position-specific tremors is crucial to this goal. In addition, patients with tremor must be carefully examined for other relevant features, including the topography of the tremor, since it can involve different body areas and possibly associate with neurological signs of uncertain significance. Following the characterization of major clinical features, it may be useful to define, whenever possible, a particular tremor syndrome and to narrow down the spectrum of possible etiologies. First, it is important to distinguish between physiological and pathological tremor, and, in the latter case, to differentiate between the underlying pathological conditions. A correct approach to tremor is particularly relevant for appropriate referral, counseling, prognosis definition, and therapeutic management of patients. The purpose of this review is to outline the possible diagnostic uncertainties that may be encountered in clinical practice in the approach to patients with tremor. In addition to an emphasis on a clinical approach, this review discusses the important ancillary role of neurophysiology and innovative technologies, neuroimaging, and genetics in the diagnostic process.


Asunto(s)
Temblor Esencial , Enfermedad de Parkinson , Humanos , Temblor/diagnóstico , Temblor/terapia , Enfermedad de Parkinson/complicaciones , Síndrome
17.
Cerebellum ; 22(5): 1039-1044, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-36083463

RESUMEN

Essential tremor (ET) may present with head tremor (HT), of presumed cerebellar nature. Deep brain stimulation (DBS) targeting the ventral intermediate (Vim) nucleus of the thalamus is a highly effective therapy for medication-refractory ET. However, stimulation-related side effects may include cerebellar abnormalities, such as postural instability. This retrospective cohort study evaluated the risk of post-Vim DBS postural instability (primary outcome measure) in patients with versus without head tremor (HT vs. nHT). The primary outcome measure, namely post-DBS postural instability, was assessed in both groups using a Wilcoxon rank sum t-test. The time to postural instability was determined using Cox proportional hazards regression analysis adjusted for age and sex. Out of 30 patients analyzed during the follow up period, there was similar postural instability detected in HT (9/14, 64%) and nHT patients (11/16, 69%) at 24 months post-Vim DBS (p=0.82), adjusted hazard ratio[aHR]=0.82, p=0.69). These data suggest that the presence or absence of HT does not have an impact on postural instability after bilateral Vim DBS in patients with ET.


Asunto(s)
Estimulación Encefálica Profunda , Temblor Esencial , Humanos , Temblor/etiología , Temblor Esencial/terapia , Estudios Retrospectivos , Estimulación Encefálica Profunda/efectos adversos , Tálamo , Núcleos Talámicos Ventrales , Resultado del Tratamiento
18.
J Clin Neurosci ; 107: 64-67, 2023 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-36512938

RESUMEN

INTRODUCTION: Community-based exercise programs for Parkinson's disease (PD) have gained popularity. Our understanding of such programs on non-motor features is limited. We characterized the effect of a 12-week community-based boxing exercise program on motor and non-motor symptoms in people with Parkinson's disease (PwPD). METHODS: In this prospective observational study, PwPD underwent a 12-week community-based boxing program (2 sessions per week, for a total of 24 sessions). The following assessments were performed by a movement disorders neurologist at baseline and after completion of the program: MDS-Unified Parkinson's Disease Rating Scale part III (MDS-UPDRS III) in a modified version since assessments were performed virtually due to COVID-19 pandemic, MDS Non-Motor Rating Scale (MDS-NMS), Hamilton Depression Rating Scale (HDRS), Lilli Apathy Rating Scale (LARS), Parkinson's Disease Questionaire-39 (PDQ-39), and Schwab and England Activities of Daily Living scale (SE-ADL). Pre- and post-assessments were compared using Wilcoxon signed rank test; only participants who completed the program and both assessments were analyzed. RESULTS: A total of 14 PwPD agreed to be a part of the study and completed assessments. All participants were ambulatory and functionally independent at baseline. Total non-motor feature severity (MDS-NMS, p = 0.0031), depression (HDRS, p = 0.015), and motor features (MDS-UPDRS PART 3 modified, p = 0.023) all improved significantly after the intervention. Scales on apathy (LARS, p = 0.29), Parkinson's disease-specific health related quality (PDQ-39, p = 0.093), and activities of daily living (SE-ADL, p = 0.32) did not demonstrate significant change. CONCLUSION: PwPD who participated in a community-based, pilot boxing program showed improvements in motor exam and non-motor symptoms.


Asunto(s)
Boxeo , COVID-19 , Enfermedad de Parkinson , Humanos , Enfermedad de Parkinson/complicaciones , Enfermedad de Parkinson/diagnóstico , Enfermedad de Parkinson/terapia , Proyectos Piloto , Actividades Cotidianas , Pandemias , Calidad de Vida
19.
Dystonia ; 12022.
Artículo en Inglés | MEDLINE | ID: mdl-36248010

RESUMEN

Objective: Blepharospasm is a type of dystonia where the diagnosis is often delayed because its varied clinical manifestations are not well recognized. The purpose of this study was to provide a comprehensive picture of its clinical features including presenting features, motor features, and non-motor features. Methods: This was a two-part study. The first part involved a systematic literature review that summarized clinical features for 10,324 cases taken from 41 prior reports. The second part involved a summary of clinical features for 884 cases enrolled in a large multicenter cohort collected by the Dystonia Coalition investigators, along with an analysis of the factors that contribute to the spread of dystonia beyond the periocular region. Results: For cases in the literature and the Dystonia Coalition, blepharospasm emerged in the 50s and was more frequent in women. Many presented with non-specific motor symptoms such as increased blinking (51.9%) or non-motor sensory features such as eye soreness or pain (38.7%), photophobia (35.5%), or dry eyes (10.7%). Non-motor psychiatric features were also common including anxiety disorders (34-40%) and depression (21-24%). Among cases presenting with blepharospasm in the Dystonia Coalition cohort, 61% experienced spread of dystonia to other regions, most commonly the oromandibular region and neck. Features associated with spread included severity of blepharospasm, family history of dystonia, depression, and anxiety. Conclusions: This study provides a comprehensive summary of motor and non-motor features of blepharospasm, along with novel insights into factors that may be responsible for its poor diagnostic recognition and natural history.

20.
J Neurol Sci ; 439: 120314, 2022 08 15.
Artículo en Inglés | MEDLINE | ID: mdl-35679630

RESUMEN

BACKGROUND: Apathy remains a disabling symptom in Parkinson's disease (PD) with limited therapeutic success. Processing of emotions and smell share neuroanatomical and evolutionary pathways. OBJECTIVES: To explore the association of apathy with smell dysfunction (SD) in early PD. METHODS: We analyzed patients with de-novo PD, with follow-up of at least 5 years from the Parkinson's Progression Markers Initiative. SD and apathy were defined using University of Pennsylvania Smell Identification Test and MDS-UPDRS part 1A. Odds ratios were calculated between apathy and olfaction groups. Kaplan-Meier survival analysis was grouped by presence/ absence of smell dysfunction. The Log Rank test was used to compare time to apathy. RESULTS: We found no association between presence of apathy in patients with and without SD (OR 1.01 [0.49-2.08]). There was no significant difference between PD patients with and without SD in time to apathy (p = 0.72). CONCLUSIONS: SD does not portend greater risk of apathy in PD.


Asunto(s)
Apatía , Trastornos del Olfato , Enfermedad de Parkinson , Emociones , Humanos , Trastornos del Olfato/complicaciones , Enfermedad de Parkinson/tratamiento farmacológico , Olfato
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