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1.
Mov Disord ; 36(1): 152-163, 2021 01.
Artículo en Inglés | MEDLINE | ID: mdl-32955752

RESUMEN

BACKGROUND: Deficits in the cerebellar locomotor region (CLR) have been associated with loss of gait automaticity in individuals with freezing of gait in Parkinson's disease (freezers); however, exercise interventions that restore gait automaticity in freezers are lacking. We evaluated the effects of the adapted resistance training with instability ([ARTI] complex exercises) compared with traditional motor rehabilitation (without complex exercises) on gait automaticity and attentional set-shifting. We also verified associations between gait automaticity change and CLR activation change previously published. METHODS: Freezers were randomized either to the experimental group (ARTI, n = 17) or to the active control group (traditional motor rehabilitation, n = 15). Both training groups performed exercises 3 times a week for 12 weeks. Gait automaticity (dual-task and dual-task cost [DTC] on gait speed and stride length), single-task gait speed and stride length, attentional set-shifting (time between Trail Making Test parts B and A), and CLR activation during a functional magnetic resonance imaging protocol of simulated step initiation task were evaluated before and after interventions. RESULTS: Both training groups improved gait parameters in single task (P < 0.05), but ARTI was more effective than traditional motor rehabilitation in improving DTC on gait speed, DTC on stride length, dual-task stride length, and CLR activation (P < 0.05). Changes in CLR activation were associated with changes in DTC on stride length (r = 0.68, P = 0.002) following ARTI. Only ARTI improved attentional set-shifting at posttraining (P < 0.05). CONCLUSIONS: ARTI restores gait automaticity and improves attentional set-shifting in freezers attributed to the usage of exercises with high motor complexity. © 2020 International Parkinson and Movement Disorder Society.


Asunto(s)
Trastornos Neurológicos de la Marcha , Enfermedad de Parkinson , Entrenamiento de Fuerza , Terapia por Ejercicio , Marcha , Trastornos Neurológicos de la Marcha/etiología , Humanos
5.
Hum Mutat ; 34(9): 1208-15, 2013 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-23804577

RESUMEN

Autosomal recessive, early-onset Parkinsonism is clinically and genetically heterogeneous. Here, we report the identification, by homozygosity mapping and exome sequencing, of a SYNJ1 homozygous mutation (p.Arg258Gln) segregating with disease in an Italian consanguineous family with Parkinsonism, dystonia, and cognitive deterioration. Response to levodopa was poor, and limited by side effects. Neuroimaging revealed brain atrophy, nigrostriatal dopaminergic defects, and cerebral hypometabolism. SYNJ1 encodes synaptojanin 1, a phosphoinositide phosphatase protein with essential roles in the postendocytic recycling of synaptic vesicles. The mutation is absent in variation databases and in ethnically matched controls, is damaging according to all prediction programs, and replaces an amino acid that is extremely conserved in the synaptojanin 1 homologues and in SAC1-like domains of other proteins. Sequencing the SYNJ1 ORF in unrelated patients revealed another heterozygous mutation (p.Ser1422Arg), predicted as damaging, in a patient who also carries a heterozygous PINK1 truncating mutation. The SYNJ1 gene is a compelling candidate for Parkinsonism; mutations in the functionally linked protein auxilin cause a similar early-onset phenotype, and other findings implicate endosomal dysfunctions in the pathogenesis. Our data delineate a novel form of human Mendelian Parkinsonism, and provide further evidence for abnormal synaptic vesicle recycling as a central theme in the pathogenesis.


Asunto(s)
Trastornos Parkinsonianos/genética , Monoéster Fosfórico Hidrolasas/genética , Monoéster Fosfórico Hidrolasas/metabolismo , Adolescente , Adulto , Edad de Inicio , Auxilinas/metabolismo , Niño , Trastornos del Conocimiento , Consanguinidad , Distonía , Exoma , Femenino , Genes Recesivos , Variación Genética , Homocigoto , Humanos , Italia , Levodopa/uso terapéutico , Masculino , Persona de Mediana Edad , Mutación , Trastornos Parkinsonianos/diagnóstico por imagen , Trastornos Parkinsonianos/tratamiento farmacológico , Linaje , Radiografía , Análisis de Secuencia de ADN , Adulto Joven
6.
Arq Neuropsiquiatr ; 81(11): 1008-1015, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-37899049

RESUMEN

BACKGROUND: Parkinson's disease (PD) may progressively reduce the upper limb's functionality. Currently, there is no standardized upper limb functional capacity assessment in PD in the rehabilitation field. OBJECTIVE: To identify specific outcome measurements to assess upper limbs in PD and access functional capacity. METHODS: We systematically reviewed and analyzed the literature in English published from August/2012 to August/2022 according to PRISMA. The following keywords were used in our search: "upper limbs" OR "upper extremity" and "Parkinson's disease." Two researchers searched independently, including studies accordingly to our inclusion and exclusion criteria. Registered at PROSPERO CRD42021254486. RESULTS: We found 797 studies, and 50 were included in this review (n = 2.239 participants in H&Y stage 1-4). The most common upper limbs outcome measures found in the studies were: (i) UPDRS-III and MDS-UPDRS to assess the severity and progression of PD motor symptoms (tremor, bradykinesia, and rigidity) (ii) Nine Hole Peg Test and Purdue Pegboard Test to assess manual dexterity; (iii) Spiral test and Funnel test to provoke and assess freezing of upper limbs; (iv) Technology assessment such as wearables sensors, apps, and other device were also found. CONCLUSION: We found evidence to support upper limb impairments assessments in PD. However, there is still a large shortage of specific tests to assess the functional capacity of the upper limbs. The upper limbs' functional capacity is insufficiently investigated during the clinical and rehabilitation examination due to a lack of specific outcome measures to assess functionality.


ANTECEDENTES: A doença de Parkinson (DP) reduz progressivamente a funcionalidade do membro superior. Não existe uma avaliação padronizada da capacidade funcional do membro superior na DP na área da reabilitação. OBJETIVO: Identificar medidas de resultados específicos para avaliar membros superiores na DP e avaliar capacidade funcional. MéTODOS: Revisamos e analisamos sistematicamente a literatura publicada de agosto/2012 a agosto/2022 de acordo com PRISMA. Usamos as seguintes palavras-chave "membros superiores" OU "extremidade superior" e "doença de Parkinson." Dois pesquisadores fizeram a busca de forma independente, incluindo estudos de acordo com os critérios de inclusão e exclusão. Registro PROSPERO CRD42021254486. RESULTADOS: Encontramos 797 estudos, 50 foram incluídos no estudo(n = 2.239 participantes no estágio 1­4 de H&Y). As medidas de resultados de membros superiores mais comuns encontradas foram: (i) UPDRS-III e MDS-UPDRS, para avaliar a gravidade e a progressão dos sintomas motores da DP (tremor, bradicinesia, e rigidez); (ii) Nine Hole Peg Test e Purdue Pegboard Test para avaliar a destreza manual; (iii) Teste da Espiral e Teste do Funil para provocar e avaliar o congelamento de membros superiores; (iv) Avaliação de tecnologia, como sensores vestíveis, aplicativos e outros dispositivos também foram encontrados. CONCLUSãO: Encontramos evidências para dar suporte para as avaliações de deficiências de membros superiores na DP. No entanto, ainda há grande escassez de testes específicos para avaliar a capacidade funcional dos membros superiores. A capacidade funcional dos membros superior é insuficientemente investigada durante o exame clínico e de reabilitação devido à falta de medidas de resultados específicos para avaliar a funcionalidade.


Asunto(s)
Enfermedad de Parkinson , Humanos , Extremidad Superior , Movimiento , Hipocinesia/diagnóstico , Pruebas de Estado Mental y Demencia
7.
NPJ Parkinsons Dis ; 9(1): 130, 2023 Sep 09.
Artículo en Inglés | MEDLINE | ID: mdl-37689706

RESUMEN

The relationship between dopaminergic treatment and freezing of gait (FOG) in Parkinson's disease (PD) is complex: levodopa is the most effective symptomatic treatment for FOG, but long-term pulsatile levodopa treatment has also been linked to an increase in the occurrence of FOG. This concept, however, continues to be debated. Here, we compared the occurrence of FOG between a levodopa-naive PD cohort and a levodopa-treated cohort. Forty-nine treatment-naive patients and 150 levodopa-treated patients were included. The time since first motor symptoms was at least 5 years. Disease severity was assessed using the MDS-UPDRS part III. Occurrence of FOG was assessed subjectively (new freezing-of-gait-questionnaire) and objectively (rapid turns test and Timed Up-and-Go test). The presence of FOG was compared between the levodopa-treated and levodopa-naive groups using a chi-square test of homogeneity. We also performed a binomial Firth logistic regression with disease duration, disease severity, country of inclusion, location of measurement, and executive function as covariates. Subjective FOG was more common in the levodopa-treated cohort (n = 41, 27%) compared to the levodopa-naive cohort (n = 2, 4%, p < 0.001). The association between FOG and levodopa treatment remained after adjustment for covariates (OR = 6.04, 95%Cl [1.60, 33.44], p = 0.006). Objectively verified FOG was more common in the levodopa-treated cohort (n = 21, 14%) compared to the levodopa-naive cohort (n = 1, 2%, p = 0.02). We found an association between long-term pulsatile levodopa treatment and an increased occurrence of FOG. Future studies should further explore the role of nonphysiological stimulation of dopamine receptors in generating FOG, as a basis for possible prevention studies.

8.
Parkinsonism Relat Disord ; 117: 105897, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37931350

RESUMEN

INTRODUCTION: With the current demographic transition, it is estimated that by 2050 Brazil will have a population of 90 million people aged 60 years or more, and in parallel Parkinson's disease (PD) will bring a considerable economic burden to our society. Brazil is considered multiracial due to its colonization, generating important social and regional inequalities. Knowing the costs of the PD may aid to improve local public policies. However, in Brazil, no estimates of these values have been made so far. OBJECTIVES: To evaluate direct, indirect, and out-of-pocket costs in Brazilian people with PD (PwP). METHODS: Categorical and numerical data were collected through a customized and standardized cost-related-questionnaire from 1055 PwP nationwide, from 10 tertiary movement disorders centers across all Brazilian regions. RESULTS: The estimated average annual cost of PwP was US$ 4020.48. Direct and indirect costs accounted for 63% and 36% of the total, respectively, and out-of-pocket costs were 49%. There were no evidence of differences in the total cost of PD across the regions of the country; however, differences were reported between the stages of the Hoehn and Yahr scale (H&Y). CONCLUSION: This data suggests a considerable burden of PD for Brazilian society in general, not only for the public health system, but mainly for those with PD.


Asunto(s)
Costo de Enfermedad , Enfermedad de Parkinson , Humanos , Brasil/epidemiología , Enfermedad de Parkinson/economía , Encuestas y Cuestionarios
9.
J Neurol Neurosurg Psychiatry ; 83(10): 970-4, 2012 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-22791905

RESUMEN

The main clinical manifestations of the spinocerebellar ataxias (SCAs) result from the involvement of the cerebellum and its connections. Cerebellar activity has been consistently observed in functional imaging studies of olfaction, but the anatomical pathways responsible for this connection have not yet been elucidated. Previous studies have demonstrated olfactory deficit in SCA2, Friedreich's ataxia and in small groups of ataxia of diverse aetiology. The authors used a validated version of the 16-item smell identification test from Sniffin' Sticks (SS-16) was used to evaluate 37 patients with genetically determined autosomal dominant ataxia, and 31 with familial ataxia of unknown genetic basis. This data was also compared with results in 106 Parkinson's disease patients and 218 healthy controls. The SS-16 score was significantly lower in ataxia than in the control group (p<0.001, 95% CI for ß=0.55 to 1.90) and significantly higher in ataxia than in Parkinson's disease (p<0.001, 95% CI for ß=-4.58 to -3.00) when adjusted for age (p=0.001, 95% CI for ß=-0.05 to -0.01), gender (p=0.19) and history of tobacco use (p=0.41). When adjusted for general cognitive function, no significant difference was found between the ataxia and control groups. This study confirms previous findings of mild hyposmia in ataxia, and further suggests this may be due to general cognitive deficits rather than specific olfactory problems.


Asunto(s)
Ataxia Cerebelosa/complicaciones , Ataxia Cerebelosa/fisiopatología , Cerebelo/fisiopatología , Disfunción Cognitiva/complicaciones , Trastornos del Olfato/etiología , Percepción Olfatoria , Enfermedad de Parkinson/complicaciones , Adulto , Anciano , Brasil , Ataxia Cerebelosa/genética , Disfunción Cognitiva/etiología , Disfunción Cognitiva/fisiopatología , Femenino , Pruebas Genéticas , Humanos , Masculino , Persona de Mediana Edad , Trastornos del Olfato/fisiopatología , Enfermedad de Parkinson/genética , Enfermedad de Parkinson/fisiopatología , Ataxias Espinocerebelosas/complicaciones , Ataxias Espinocerebelosas/fisiopatología
10.
Front Rehabil Sci ; 3: 849333, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36189041

RESUMEN

In advanced stages of in Huntington's disease (HD) gait impairments and severe chorea are usually medication-refractory. The long-term effects on gait in HD of physiotherapy ICF-based management post- globus pallidus deep brain stimulation (GPi DBS) are not well-established. Physiotherapy has been recognized as an essential element in HD treatment. Here, we present a case report of a 56-year-old woman with HD on the advanced stage and severe chorea medication-refractory after GPi-DBS. We performed multidisciplinary motor assessments ICF-based to identify the disability at clinical and home-setting, including environmental and personal factors before and after GPi-DBS surgery and at 11-time points follow-up. The surgery was very successful and directly post GPi-DBS, there were a significant improvement in chorea and a substantial decrease in medication dose. A framework ICF- based physiotherapy protocol with external cues was developed to improve gait was delivered post-surgery and was continued three times/week during 18-months. Physiotherapy sessions consisted of a personalized protocol of exercises with functional movements, balance, and gait training with external cues. Improvements in gait were observed in 3-months post-intervention and were more expressive in 6-months follow-up. Our patient improved substantially HD motor symptoms and her quality of life after GPi-DBS intervention and a physiotherapy program ICF-based. The objective outcomes measures used to assess gait have served as endpoints to assessing the patient's motor profile during the pre-operative period. Assessments were helpful to verify the efficacy of the multidisciplinary intervention in long-term. Conclusion: Periodically assessing function and disability using outcome improvements may support clinicians' decisions about DBS, medication adjustments and guide physiotherapists to personalize the ICF-based intervention.

11.
Pain ; 162(4): 1201-1210, 2021 04 01.
Artículo en Inglés | MEDLINE | ID: mdl-33044395

RESUMEN

ABSTRACT: Pain is a common nonmotor symptom in patients with Parkinson disease (PD) but the correct diagnosis of the respective cause remains difficult because suitable tools are lacking, so far. We developed a framework to differentiate PD- from non-PD-related pain and classify PD-related pain into 3 groups based on validated mechanistic pain descriptors (nociceptive, neuropathic, or nociplastic), which encompass all the previously described PD pain types. Severity of PD-related pain syndromes was scored by ratings of intensity, frequency, and interference with daily living activities. The PD-Pain Classification System (PD-PCS) was compared with classic pain measures (ie, brief pain inventory and McGill pain questionnaire [MPQ], PDQ-8 quality of life score, MDS-UPDRS scores, and nonmotor symptoms). 159 nondemented PD patients (disease duration 10.2 ± 7.6 years) and 37 healthy controls were recruited in 4 centers. PD-related pain was present in 122 patients (77%), with 24 (15%) suffering one or more syndromes at the same time. PD-related nociceptive, neuropathic, or nociplastic pain was diagnosed in 87 (55%), 25 (16%), or 35 (22%), respectively. Pain unrelated to PD was present in 35 (22%) patients. Overall, PD-PCS severity score significantly correlated with pain's Brief Pain Inventory and MPQ ratings, presence of dyskinesia and motor fluctuations, PDQ-8 scores, depression, and anxiety measures. Moderate intrarater and interrater reliability was observed. The PD-PCS is a valid and reliable tool for differentiating PD-related pain from PD-unrelated pain. It detects and scores mechanistic pain subtypes in a pragmatic and treatment-oriented approach, unifying previous classifications of PD-pain.


Asunto(s)
Enfermedad de Parkinson , Humanos , Dolor/diagnóstico , Dolor/etiología , Enfermedad de Parkinson/complicaciones , Enfermedad de Parkinson/diagnóstico , Calidad de Vida , Reproducibilidad de los Resultados , Índice de Severidad de la Enfermedad
12.
Mov Disord ; 25(16): 2879-83, 2010 Dec 15.
Artículo en Inglés | MEDLINE | ID: mdl-20818658

RESUMEN

LRRK2 mutations can cause familial and sporadic Parkinson's disease (PD) with Lewy-body pathology at post-mortem. Studies of olfaction in LRRK2 are sparse and incongruent. We applied a previously validated translation of the 16 item smell identification test from Sniffin' Sticks (SS-16) to 14 parkinsonian carriers of heterozygous G2019S LRRK2 mutation and compared with 106 PD patients and 118 healthy controls. The mean SS-16 score in LRRK2 was higher than in PD (p < 0.001, 95% CI for ß = -4.7 to -1.7) and lower than in controls (p = 0.007, 95% CI for ß = +0.6 to +3.6). In the LRRK2 group, subjects with low scores had significantly more dyskinesia. They also had younger age of onset, longer disease duration, and reported less frequently a family history of PD, but none of these other differences reached significance. Odor identification is diminished in LRRK2 parkinsonism but not to the same extent as in idiopathic PD.


Asunto(s)
Trastornos del Olfato/genética , Percepción Olfatoria/genética , Trastornos Parkinsonianos/genética , Proteínas Serina-Treonina Quinasas/genética , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Predisposición Genética a la Enfermedad , Humanos , Proteína 2 Quinasa Serina-Treonina Rica en Repeticiones de Leucina , Masculino , Persona de Mediana Edad , Mutación , Trastornos del Olfato/complicaciones , Trastornos Parkinsonianos/complicaciones
13.
J Neurol Sci ; 418: 117086, 2020 Nov 15.
Artículo en Inglés | MEDLINE | ID: mdl-32891018

RESUMEN

Non-pharmacological interventions such as physiotherapy are recognized as important elements in the overall clinical management of motor impairments in PD, but evidence of physiotherapy in advanced disease stages is sparse. A recent trial found positive effects of multimodal balance training in people with mild to moderate PD, with greater and more sustained effects when rhythmical auditory stimuli were added. It is unclear whether such multimodal balance training is also effective in people with advanced PD (Hoehn & Yahr stage 4). METHODS: We performed a pilot prospective single-blind, randomized clinical trial to study the effectiveness of multimodal training with and without rhythmical auditory stimuli. We screened 76 people with Parkinson's disease and Hoehn & Yahr stage 4 by telephone; 35 patients were assigned randomly into two groups: (1) multimodal balance training with rhythmical auditory stimuli (RAS-supported intervention, n = 17) and (2) multimodal balance training without rhythmical auditory cues (n = 18). Training was performed for 5 weeks, two times/week. Primary outcome was the Mini-BESTest (MBEST) score immediately after the training period. Assessments were performed by the same two blinded assessors at baseline, immediately post intervention, and after one and 6-months follow-up. RESULTS: Immediately post-intervention, both intervention groups improved significantly on Mini-Best scores, without differences between both intervention modalities. In both groups, results were retained at one-month follow-up. At 6-months follow-up, the effects were retained only in the RAS-supported intervention group. For both intervention groups, no improvements were found on secondary outcome measures for gait. CONCLUSION: Both RAS-supported multimodal balance training and regular multimodal balance training improve balance in PD patients in advanced disease stages. Effects appear to sustain longer in the RAS-supported training group.


Asunto(s)
Enfermedad de Parkinson , Terapia por Ejercicio , Marcha , Humanos , Enfermedad de Parkinson/terapia , Proyectos Piloto , Equilibrio Postural , Estudios Prospectivos , Método Simple Ciego
14.
Parkinsonism Relat Disord ; 80: 1-6, 2020 11.
Artículo en Inglés | MEDLINE | ID: mdl-32920321

RESUMEN

INTRODUCTION: Cerebellar ataxia remains a neurological symptom orphan of treatment interventions, despite being prevalent and incapacitating. We aimed to study, in a double-blind design, whether cerebellar modulation could improve ataxia. METHODS: We included patients with diagnosis of spinocerebellar ataxia type 3, multiple systems atrophy cerebellar type, or post-lesion ataxia. Patients received five sessions each of sham and active cerebellar 1 Hz deep repetitive transcranial magnetic stimulation in randomized order. Our primary outcome was the decrease in the Scale for the Assessment and Rating of Ataxia when comparing phases (active x sham). Secondary outcomes measures included the International Cooperative Ataxia Rating Scale, and other motor, cognitive, and quality of life scales. This study was registered at clinicaltrials.gov (protocol NCT03213106). RESULTS: Twenty-four patients aged 29-74 years were included in our trial. After active stimulation, the Scale for the Assessment and Rating of Ataxia score was significantly lower than the score after sham stimulation [median (interquartile range) of 10.2 (6.2, 16.2) versus 12.8 (9.6, 17.8); p = 0.002]. The International Cooperative Ataxia Rating Scale score also improved after active stimulation versus sham [median (interquartile range) of 29.0 (21.0, 43.5) versus 32.8 (22.0, 47.0); p = 0.005]. Other secondary outcomes were not significantly modified by stimulation. No patient presented severe side effects, and nine presented mild and self-limited symptoms. CONCLUSIONS: Our protocol was safe and well-tolerated. These findings suggest that cerebellar modulation may improve ataxic symptom and provide reassurance about safety for clinical practice.


Asunto(s)
Ataxia Cerebelosa/terapia , Atrofias Olivopontocerebelosas/terapia , Estimulación Magnética Transcraneal , Adulto , Anciano , Estudios Cruzados , Método Doble Ciego , Femenino , Humanos , Enfermedad de Machado-Joseph/terapia , Masculino , Persona de Mediana Edad , Evaluación de Resultado en la Atención de Salud , Estimulación Magnética Transcraneal/efectos adversos
15.
Phys Ther ; 100(11): 2023-2034, 2020 10 30.
Artículo en Inglés | MEDLINE | ID: mdl-32737973

RESUMEN

OBJECTIVE: To fulfill the potential of nonpharmacological interventions for people with Parkinson disease (PD), individually tailored treatment is needed. Multimodal balance training supported by rhythmic auditory stimuli (RAS) can improve balance and gait in people with PD. The purpose of this study was to determine whether both freezers and nonfreezers benefit. METHODS: A secondary analysis was conducted on a large randomized controlled trial that included 154 patients with PD (Hoehn & Yahr Stages 1-3 while ON-medication) who were assigned randomly to 3 groups: (1) multimodal balance training with RAS delivered by a metronome (RAS-supported multimodal balance training); (2) regular multimodal balance training without rhythmic auditory cues; and (3) a control intervention (involving an educational program). Training was performed for 5 weeks, twice per week. The primary outcome was the Mini-BESTest score directly after the training period. Assessments were performed by a single, masked assessor at baseline, directly postintervention, and after 1-month and 6-month follow-up. Outcomes were analyzed in 1 analysis, and the results were presented separately for freezers and nonfreezers with a linear mixed model, adjusted for baseline Mini-BESTest scores, Unified Parkinson's Disease Rating Scale scores, and levodopa equivalent dose. RESULTS: In both freezers and nonfreezers, both RAS-supported multimodal training and regular training significantly improved the Mini-BESTest scores compared with baseline scores and with the control group scores. The improvement was larger for RAS-supported training compared with regular training, for both freezers and nonfreezers. Only the RAS-supported training group retained the improvements compared with baseline measurements at 6-month follow-up, and this was true for both freezers and nonfreezers. CONCLUSIONS: RAS-supported multimodal training is effective in improving balance performance in both freezers and nonfreezers. IMPACT: Until this study, it was unknown whether both freezers and nonfreezers could benefit from multimodal balance training. With this information, clinicians who work with people with PD will be better able to apply personalized gait rehabilitation. LAY SUMMARY: Adding rhythmic auditory stimuli (RAS) to balance training is beneficial for both freezers and nonfreezers, at least in persons with mild to moderate disease stages. This RAS-supported multimodal training has good potential for a wider clinical implementation with good long-term effects.


Asunto(s)
Estimulación Acústica , Trastornos Neurológicos de la Marcha/rehabilitación , Enfermedad de Parkinson/rehabilitación , Equilibrio Postural/fisiología , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Enfermedad de Parkinson/complicaciones , Ensayos Clínicos Controlados Aleatorios como Asunto , Encuestas y Cuestionarios
16.
J Parkinsons Dis ; 10(1): 333-346, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-31884492

RESUMEN

BACKGROUND: Balance impairment in Parkinson's disease (PD) improves only partially with dopaminergic medication. Therefore, non-pharmacological interventions such as physiotherapy are important elements in clinical management. External cues are often applied to improve gait, but their effects on balance control are unclear. OBJECTIVE/METHODS: We performed a prospective, single-blind, randomized clinical trial to study the effectiveness of balance training with and without rhythmical auditory cues. We screened 201 volunteers by telephone; 154 were assigned randomly into three groups: (1) multimodal balance training supported by rhythmical auditory stimuli (n = 56) (RAS-supported multimodal balance training); (2) regular multimodal balance training without rhythmical auditory stimuli (n = 50); and (3) control intervention involving a general education program (n = 48). Training was performed for 5 weeks, two times/week. Linear mixed models were used for all outcomes. Primary outcome was the Mini-BESTest (MBEST) score immediately after the training period. Assessments were performed by a single, blinded assessor at baseline, immediately post intervention, and after one and 6-months follow-up. RESULTS: Immediately post intervention, RAS-supported multimodal balance training was more effective than regular multimodal balance training on MBEST (difference 3.5 (95% Confidence Interval (CI) 2.2; 4.8)), p < 0.001). Patients allocated to both active interventions improved compared to controls (MBEST estimated mean difference versus controls 6.6 (CI 5.2; 8.0), p < 0.001 for RAS-supported multimodal balance training; and 3.0 (CI 2.7; 5.3), p < 0.001 for regular multimodal balance training). Improvements were retained at one-month follow-up for both active interventions, but only the RAS-supported multimodal balance training group maintained its improvement at 6 months. CONCLUSION: Both RAS-supported multimodal balance training and regular multimodal balance training improve balance, but RAS-supported multimodal balance training-adding rhythmical auditory cues to regular multimodal balance training-has greater and more sustained effects.


Asunto(s)
Percepción Auditiva , Señales (Psicología) , Terapia por Ejercicio , Evaluación de Resultado en la Atención de Salud , Enfermedad de Parkinson/rehabilitación , Equilibrio Postural , Anciano , Anciano de 80 o más Años , Percepción Auditiva/fisiología , Terapia por Ejercicio/métodos , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Enfermedad de Parkinson/fisiopatología , Equilibrio Postural/fisiología , Estudios Prospectivos , Método Simple Ciego
17.
Neuroimage Clin ; 28: 102461, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-33395957

RESUMEN

Specific impairments of anticipatory postural adjustment (APA) during step initiation have been reported in patients with Parkinson's disease (PD) and freezing of gait (FoG). Although APA disruption has been associated with FoG, there is scarce knowledge about its neural correlates. We sought to better understand the neural networks involved with APA in patients with FoG by assessing the level of hemodynamic response of specific brain regions and the functional connectivity during the leg lifting task. In the current investigation, APAs of patients with PD, with and without (nFoG) freezing were assessed during a leg lifting task in an event-related, functional magnetic resonance imaging (er-fMRI) protocol. Results identified a high hemodynamic response in the right anterior insula (AI) and supplementary motor area (SMA) in the FoG group when an APA was required. The nFoG had stronger connectivity between the right and left insulae than the FoG group. The strength of this connectivity was negatively correlated with the severity of FoG. Both groups showed different brain network organizations comprising the SMA and the bilateral AI. The SMA was found to be a hub in patients with FoG when an APA was required for the task. Our findings suggest that both groups used compensatory mechanism comprising the insulae during APA. Neither group used the entire network comprised of the insulae and SMA to accomplish the task. The FoG group relied more on SMA as a hub than as part of a broader network to exchange information during the APA.


Asunto(s)
Trastornos Neurológicos de la Marcha , Enfermedad de Parkinson , Encéfalo/diagnóstico por imagen , Marcha , Trastornos Neurológicos de la Marcha/diagnóstico por imagen , Trastornos Neurológicos de la Marcha/etiología , Humanos , Imagen por Resonancia Magnética , Enfermedad de Parkinson/diagnóstico por imagen
18.
Mov Disord ; 24(8): 1144-53, 2009 Jun 15.
Artículo en Inglés | MEDLINE | ID: mdl-19370732

RESUMEN

Smell identification tests (SITs) have been suggested as useful in the differential diagnosis of Parkinson's disease (PD). We have applied the 40 item University of Pennsylvania SIT (UPSIT-40) and/or the 16 item SIT from Sniffin Sticks (SS-16) to 193 nondemented PD patients and 157 controls and used logistic regression analysis to associate the SIT result with the probability of an individual patient having PD ("PD probability"). Reliability measures (95% CI) using the clinical diagnosis as a gold standard and a dichotomized result of the smell test into high (50% or more) or low (<50%) "PD probability" were: sensitivity 85.0% (78.8-89.7%), specificity 84.6% (77.3-89.9%) for the UPSIT-40; sensitivity 90.4% (83.5-94.7%), specificity 85.5% (76.2-91.7%) for the SS-16. Based on these findings we have created color coded visual tools (PD probability rulers) and applied them to 39 clinically uncertain parkinsonian syndromes (CUPS) patients who had been investigated with dopamine transporter SPECT scanning using [123-I]-FP-CIT SPECT (DaTSCAN) for suspected Parkinson's disease. In 32 of 36 CUPS cases (88.9%, kappa = 0.72) the probability ruler predicted the result of the DaTSCAN. We suggest smell tests could be used routinely in challenging cases where there is diagnostic uncertainty and help inform decision making relating to the need for neuro imaging.


Asunto(s)
Trastornos Parkinsonianos/diagnóstico , Trastornos Parkinsonianos/fisiopatología , Examen Físico , Probabilidad , Olfato/fisiología , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Radioisótopos de Yodo , Modelos Logísticos , Masculino , Persona de Mediana Edad , Pruebas Neuropsicológicas , Trastornos Parkinsonianos/diagnóstico por imagen , Examen Físico/métodos , Sensibilidad y Especificidad , Índice de Severidad de la Enfermedad , Tomografía Computarizada de Emisión de Fotón Único/métodos , Tropanos
19.
Neurourol Urodyn ; 28(6): 510-5, 2009.
Artículo en Inglés | MEDLINE | ID: mdl-19191278

RESUMEN

AIMS: We assessed the lower urinary tract symptoms (LUTS) of patients with Parkinson's disease (PD) and their association with different clinical parameters. METHODS: We prospectively evaluated 110 patients (84 men), with a mean age of 61.8 +/- 9.6 years. Mean duration of the disease was 12.3 +/- 7.2 years. Neurological impairment was assessed by the Hoehn-Yahr and the Unified Parkinson Disease Rating scales. LUTS were assessed by the International Continence Society questionnaire. We evaluated the impact of age, PD duration, neurological impairment, gender, and use of anti-Parkinsonian drugs on the voiding function. RESULTS: On multivariate analysis, voiding dysfunction increased with the neurological impairment, but not with patient's age or disease duration. Quality of life (QOL) was affected by the severity of LUTS, and the symptoms with the worst impact were frequency and nocturia. Sixty-three (57.2%) patients were symptomatic. They did not differ with the asymptomatic as to age and disease duration, but had more severe neurological impairment. No impact on LUTS was associated with the use of levodopa, anticholinergics, and dopamine receptor agonists. Men and women were similarly affected by urinary symptoms. CONCLUSIONS: The severity of the neurological disease is the only predictive factor for the occurrence of voiding dysfunction, which affects men and women alike.


Asunto(s)
Enfermedad de Parkinson/complicaciones , Enfermedades de la Vejiga Urinaria/etiología , Vejiga Urinaria/fisiopatología , Adulto , Factores de Edad , Anciano , Antiparkinsonianos/uso terapéutico , Evaluación de la Discapacidad , Femenino , Humanos , Modelos Lineales , Masculino , Persona de Mediana Edad , Examen Neurológico , Enfermedad de Parkinson/tratamiento farmacológico , Enfermedad de Parkinson/epidemiología , Enfermedad de Parkinson/fisiopatología , Prevalencia , Estudios Prospectivos , Calidad de Vida , Medición de Riesgo , Factores de Riesgo , Índice de Severidad de la Enfermedad , Factores Sexuales , Encuestas y Cuestionarios , Factores de Tiempo , Vejiga Urinaria/inervación , Enfermedades de la Vejiga Urinaria/epidemiología , Enfermedades de la Vejiga Urinaria/fisiopatología
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