Complex Movement Disorders in Ataxia with Oculomotor Apraxia Type 1: Beyond the Cerebellar Syndrome.

Background: Ataxia with oculomotor apraxia (AOA1) is characterized by early-onset progressive cerebellar ataxia with peripheral neuropathy, oculomotor apraxia and hypoalbuminemia and hypercholesterolemia. Case Report: A 23-year-old previously healthy woman presented with slowly-progressive gait impairment since the age of six years. Neurological examination revealed profound areflexia, chorea, generalized dystonia and oculomotor apraxia. Brain MRI revealed mild cerebellar atrophy and needle EMG showed axonal sensorimotor neuropathy. Whole exome sequencing revealed a mutation in the aprataxin gene. Discussion: AOA1 can present with choreoathetosis mixed with dystonic features, resembling ataxia-telangiectasia. This case is instructive since mixed and complex movement disorders is not very common in AOA1. Highlights: Ataxia with oculomotor apraxia type 1 (AOA1) is characterized by early-onset ataxia and oculomotor apraxia caused by variants in the APTX gene.Ataxia is usually not the sole movement abnormality in AOA1.Hyperkinetic movement disorders, especially chorea and dystonia, may occur.Mixed and complex movement disorders is not very common in AOA1.Patients with early-onset ataxia associated with mixed movement disorders should also be investigated for AOA1.

Neurological Development, Epilepsy, and the Pharmacotherapy Approach in Children with Congenital Zika Syndrome: Results from a Two-Year Follow-up Study.

Clinical outcomes related to congenital Zika syndrome (CZS) include microcephaly accompanied by specific brain injuries. Among several CZS outcomes that have been described, epilepsy and motor impairments are present in most cases. Pharmacological treatment for seizures resulting from epilepsy is performed with anticonvulsant drugs, which in the long term are related to impairments in the child's neuropsychomotor development. Here, we describe the results from a two-year follow-up of a cohort of children diagnosed with CZS related to the growth of the head circumference and some neurological and motor outcomes, including the pharmacological approach, and its results in the treatment of epileptic seizures. This paper is part of a prospective cohort study carried out in the state of Mato Grosso Sul, Brazil, based on a Zika virus (ZIKV)-exposed child population. Our data were focused on the assessment of head circumference growth and some neurological and motor findings, including the description of seizure conditions and pharmacological management in two periods. Among the 11 children evaluated, 8 had severe microcephaly associated with motor impairment and/or epilepsy. Seven children were diagnosed with epilepsy. Of these, 3 had West syndrome. In four children with other forms of epilepsy, there was no pharmacological control.

Does trans-spinal direct current stimulation modulate the Hoffmann reflexes of healthy individuals? A systematic review and meta-analysisc.

STUDY DESIGN: Systematic review and meta-analysis. OBJECTIVES: To summarize the available evidence regarding the effects of trans-spinal direct current stimulation (tsDCS) on spinal monosynaptic circuit excitability in healthy individuals. SETTING: Applied Neuroscience Laboratory, Brazil. METHODS: Abstract screening was performed independently by two authors for studies found in the following databases: PubMed, CINAHL, PsycINFO, Web of Science, and LILACS. If the authors were unable to agree, a third reviewer was consulted. Randomized clinical trials that reported monosynaptic reflex measures were included. Methodological quality was assessed using the Cochrane tool for assessing the risk of bias, and information extracted about the spinal neurophysiological and stimulation protocols and their results. RESULTS: The initial search identified 538 studies. After applying the inclusion criteria and excluding duplicates, seven crossover studies were included in the risk of bias assessment, and six studies in the meta-analyses. The meta-analysis results did not show any significant differences between anodal (pooled standardized mean difference (SMD) = -0.09, 95% CI = -0.72 to 0.55, p = 0.79, I2 = 67%) or cathodal tsDCS (pooled SMD = 0.28, 95% CI = -0.07 to 0.63, p = 0.11, I2 = 0%) and sham tsDCS for Hoffmann reflex modulation. CONCLUSION: tsDCS did not affect the Hoffmann reflex, as shown in six studies. However, these findings come from studies with selection, performance and detection bias, and further research is needed to examine the effect of this intervention.

Combined ocular and cervical vestibular evoked myogenic potential in individuals with vestibular hyporeflexia and in patients with Ménière's disease / Potencial evocado miogênico vestibular ocular e cervical simultâneo em indivíduos com hiporreflexia vestibular e em indivíduos com doença de Ménière

Abstract Introduction: The vestibular evoked myogenic potential is a potential of mean latency that measures the muscle response to auditory stimulation. This potential can be generated from the contraction of the sternocleidomastoid muscle and also from the contraction of extraocular muscles in response to high-intensity sounds. This study presents a combined or simultaneous technique of cervical and ocular vestibular evoked myogenic potential in individuals with changes in the vestibular system, for use in otoneurologic diagnosis. Objective: To characterize the records and analyze the results of combined cervical and ocular VEMP in individuals with vestibular hyporeflexia and in those with Ménière's disease. Methods: The study included 120 subjects: 30 subjects with vestibular hyporeflexia, 30 with Ménière's disease, and 60 individuals with normal hearing. Data collection was performed by simultaneously recording the cervical and ocular vestibular evoked myogenic potential. Results: There were differences between the study groups (individuals with vestibular hyporeflexia and individuals with Ménière's disease) and the control group for most of wave parameters in combined cervical and ocular vestibular evoked myogenic potential. For cervical vestibular evoked myogenic potential, it was observed that the prolongation of latency of the P13 and N23 waves was the most frequent finding in the group with vestibular hyporeflexia and in the group with Ménière's disease. For ocular vestibular evoked myogenic potential, prolonged latency of N10 and P15 waves was the most frequent finding in the study groups. Conclusion: Combined cervical and ocular vestibular evoked myogenic potential presented relevant results for individuals with vestibular hyporeflexia and for those with Ménière's disease. There were differences between the study groups and the control group for most of the wave parameters in combined cervical and ocular vestibular evoked myogenic potential.

Resumo Introdução: O potencial evocado miogênico vestibular é um potencial de média latência que avalia a resposta muscular decorrente de estimulação auditiva. Pode ser gerado a partir da contração do músculo esternocleidomastóideo e também a partir da contração de músculos extraoculares em resposta a sons de elevada intensidade. Este estudo apresenta uma técnica combinada ou simultânea de potencial evocado miogênico vestibular cervical e ocular em indivíduos com alterações no sistema vestibular para que possa ser usada no diagnóstico otoneurológico. Objetivo: Caracterizar o registro e analisar os resultados do potencial evocado miogênico vestibular cervical e ocular combinado em indivíduos com hiporreflexia vestibular e em indivíduos com doença de Ménière. Método: Participaram do estudo 120 indivíduos, 30 com hiporreflexia vestibular, 30 com doença de Ménière e 60 com audição dentro dos padrões de normalidade. A coleta de dados foi feita por meio do potencial evocado miogênico vestibular cervical e ocular registrados simultaneamente. Resultados: Houve diferença entre o grupo de estudo (indivíduos com hiporreflexia vestibular e indivíduos com doença de Ménière) e o grupo controle para a maioria dos parâmetros das ondas no potencial evocado miogênico vestibular cervical e ocular combinado. Para o potencial evocado miogênico vestibular cervical observou-se que o prolongamento da latência das ondas P13 e N23 foi a alteração mais encontrada no grupo de indivíduos com hiporreflexia vestibular e no grupo de indivíduos com doença de Ménière. Para o potencial evocado miogênico vestibular ocular o prolongamento da latência das ondas N10 e P15 foi a alteração mais encontrada no grupo de estudo. Conclusão: O potencial evocado miogênico vestibular cervical e ocular combinado apresentou resultados relevantes para os indivíduos com hiporreflexia vestibular e para os indivíduos com doença de Ménière. Houve diferença entre o grupo de estudo e o grupo controle para a maioria dos parâmetros das ondas no potencial evocado miogênico vestibular cervical e ocular combinado.

Vastus Medialis Hoffmann Reflex Excitability Is Associated With Pain Level, Self-Reported Function, and Chronicity in Women With Patellofemoral Pain.

OBJECTIVE: To determine the association between the amplitude of vastus medialis (VM) Hoffmann reflex (H-reflex) and pain level, self-reported physical function, and chronicity of pain in women with patellofemoral pain (PFP). DESIGN: Cross-sectional study. SETTING: Laboratory of biomechanics and motor control. PARTICIPANTS: Women diagnosed with PFP (N=15) aged 18 to 35 years. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: Data on worst pain level during the previous month, self-reported physical function, and symptom duration (chronicity) were collected from the participants. Maximum evoked responses were obtained by electrical stimulation applied to the femoral nerve and peak-to-peak amplitudes of normalized maximal H-reflexes (maximal Hoffmann reflex/maximal motor wave ratios) of the VM were calculated. A Pearson product-moment correlation matrix (r) was used to explore the relations between the amplitude of VM H-reflex and worst pain during the previous month, self-reported function, and chronicity of pain. RESULTS: Strong negative correlations were found between the amplitude of VM H-reflex and worst pain in the previous month (r=-.71; P=.003) and chronicity (r=-.74; P=.001). A strong positive correlation was found between the amplitude of VM H-reflex and self-reported physical function (r=.62; P=.012). CONCLUSIONS: The strong and significant relations reported in this study suggest that women with PFP showing greater VM H-reflex excitability tend to have lower pain, better physical function, and more recent symptoms. Therefore, rehabilitation strategies designed to increase the excitability of the monosynaptic stretch reflex should be considered in the treatment of women with PFP if their effectiveness is demonstrated in future studies.

Combined ocular and cervical vestibular evoked myogenic potential in individuals with vestibular hyporeflexia and in patients with Ménière's disease.

INTRODUCTION: The vestibular evoked myogenic potential is a potential of mean latency that measures the muscle response to auditory stimulation. This potential can be generated from the contraction of the sternocleidomastoid muscle and also from the contraction of extraocular muscles in response to high-intensity sounds. This study presents a combined or simultaneous technique of cervical and ocular vestibular evoked myogenic potential in individuals with changes in the vestibular system, for use in otoneurologic diagnosis. OBJECTIVE: To characterize the records and analyze the results of combined cervical and ocular VEMP in individuals with vestibular hyporeflexia and in those with Ménière's disease. METHODS: The study included 120 subjects: 30 subjects with vestibular hyporeflexia, 30 with Ménière's disease, and 60 individuals with normal hearing. Data collection was performed by simultaneously recording the cervical and ocular vestibular evoked myogenic potential. RESULTS: There were differences between the study groups (individuals with vestibular hyporeflexia and individuals with Ménière's disease) and the control group for most of wave parameters in combined cervical and ocular vestibular evoked myogenic potential. For cervical vestibular evoked myogenic potential, it was observed that the prolongation of latency of the P13 and N23 waves was the most frequent finding in the group with vestibular hyporeflexia and in the group with Ménière's disease. For ocular vestibular evoked myogenic potential, prolonged latency of N10 and P15 waves was the most frequent finding in the study groups. CONCLUSION: Combined cervical and ocular vestibular evoked myogenic potential presented relevant results for individuals with vestibular hyporeflexia and for those with Ménière's disease. There were differences between the study groups and the control group for most of the wave parameters in combined cervical and ocular vestibular evoked myogenic potential.

Migraine patients consistently show abnormal vestibular bedside tests / Pacientes enxaquecosos consistentemente apresentam testes vestibulares de beira-de-leito anormais

Migraine and vertigo are common disorders, with lifetime prevalences of 16% and 7% respectively, and co-morbidity around 3.2%. Vestibular syndromes and dizziness occur more frequently in migraine patients. We investigated bedside clinical signs indicative of vestibular dysfunction in migraineurs. Objective To test the hypothesis that vestibulo-ocular reflex, vestibulo-spinal reflex and fall risk (FR) responses as measured by 14 bedside tests are abnormal in migraineurs without vertigo, as compared with controls. Method Cross-sectional study including sixty individuals – thirty migraineurs, 25 women, 19-60 y-o; and 30 gender/age healthy paired controls. Results Migraineurs showed a tendency to perform worse in almost all tests, albeit only the Romberg tandem test was statistically different from controls. A combination of four abnormal tests better discriminated the two groups (93.3% specificity). Conclusion Migraine patients consistently showed abnormal vestibular bedside tests when compared with controls.

Enxaqueca e vertigem são desordens comuns, com prevalência de 16% e 7% respectivamente, e comorbidade em torno de 3,2%. Síndromes vestibulares e tonturas ocorrem mais frequentemente em enxaquecosos. Pesquisamos alterações vestibulares utilizando testes de beira-de-leito em enxaquecosos. Objetivo Verificar se as respostas dos reflexos vestíbulo-ocular, vestíbulo-medular e risco de quedas medidas por 14 testes de beira-de-leito são diferentes comparando-se enxaquecosos sem vertigem, e controles. Método Estudo transversal com sessenta pessoas, 30 enxaquecosos; 25 mulheres, 19-60 anos; e trinta controles saudáveis pareados por sexo e idade. Resultados Houve tendência de pior desempenho entre enxaquecosos em quase todos testes, porém apenas o teste de Romberg tandem foi estatisticamente diferente dos controles. Uma combinação de quatro testes anormais discrimina os grupos com especificidade de 93,3%. Conclusão O grupo de enxaquecosos mostrou consistentemente testes vestibulares de beira-de-leito anormais quando comparados a controles.

Migraine patients consistently show abnormal vestibular bedside tests.

UNLABELLED: Migraine and vertigo are common disorders, with lifetime prevalences of 16% and 7% respectively, and co-morbidity around 3.2%. Vestibular syndromes and dizziness occur more frequently in migraine patients. We investigated bedside clinical signs indicative of vestibular dysfunction in migraineurs. OBJECTIVE: To test the hypothesis that vestibulo-ocular reflex, vestibulo-spinal reflex and fall risk (FR) responses as measured by 14 bedside tests are abnormal in migraineurs without vertigo, as compared with controls. METHOD: Cross-sectional study including sixty individuals - thirty migraineurs, 25 women, 19-60 y-o; and 30 gender/age healthy paired controls. RESULTS: Migraineurs showed a tendency to perform worse in almost all tests, albeit only the Romberg tandem test was statistically different from controls. A combination of four abnormal tests better discriminated the two groups (93.3% specificity). CONCLUSION: Migraine patients consistently showed abnormal vestibular bedside tests when compared with controls.

The vascular and neurogenic factors associated with erectile dysfunction in patients after pelvic fractures.

Erectile dysfunction (ED) is a common complication of pelvic fractures. To identify the vascular and neurogenic factors associated with ED, 120 patients admitted with ED after traumatic pelvic fracture between January 2009 and June 2013 were enrolled in this study. All patients answered the International Index of Erectile Function (IIEF-5) questionnaire. Nocturnal penile tumescence (NPT) testing confirmed the occurrence of ED in 96 (80%) patients on whom penile duplex ultrasound and neurophysiological testing were further performed. Of these ED patients 29 (30%) were demonstrated only with vascular abnormality, 41 (42.7%) were detected only with neural abnormality, 26 (27.1%) revealed mixed abnormalities. Of the 55 patients (29+26) with vascular problems, 7 patients (12.7%) with abnormal arterial response to intracavernous injection of Bimix (15mg papaverine and 1mg phentolamine), 31 (56.4%) with corporal veno-occlusive dysfunction and 17 (30.9%) had both problems. Of the 67 (41+26) patients with abnormal neurophysiological outcomes, 51 (76.1%) with abnormal bulbocavernosus re?ex (BCR), 20 (29.9%) with pathological pudendal nerve evoked potentials (PDEPs) and 25 (37.3%) with abnormal posterior tibial somatosensory nerve evoked potentials (PTSSEPs). Our observation indicated that neurogenic factors are important for the generation of ED in patients with pelvic fracture; venous impotence is more common than arteriogenic ED.

The vascular and neurogenic factors associated with erectile dysfunction in patients after pelvic fractures

ABSTRACT Erectile dysfunction (ED) is a common complication of pelvic fractures. To identify the vascular and neurogenic factors associated with ED, 120 patients admitted with ED after traumatic pelvic fracture between January 2009 and June 2013 were enrolled in this study. All patients answered the International Index of Erectile Function (IIEF-5) questionnaire. Nocturnal penile tumescence (NPT) testing confirmed the occurrence of ED in 96 (80%) patients on whom penile duplex ultrasound and neurophysiological testing were further performed. Of these ED patients 29 (30%) were demonstrated only with vascular abnormality, 41 (42.7%) were detected only with neural abnormality, 26 (27.1%) revealed mixed abnormalities. Of the 55 patients (29+26) with vascular problems, 7 patients (12.7%) with abnormal arterial response to intracavernous injection of Bimix (15mg papaverine and 1mg phentolamine), 31 (56.4%) with corporal veno-occlusive dysfunction and 17 (30.9%) had both problems. Of the 67 (41+26) patients with abnormal neurophysiological outcomes, 51 (76.1%) with abnormal bulbocavernosus reflex (BCR), 20 (29.9%) with pathological pudendal nerve evoked potentials (PDEPs) and 25 (37.3%) with abnormal posterior tibial somatosensory nerve evoked potentials (PTSSEPs). Our observation indicated that neurogenic factors are important for the generation of ED in patients with pelvic fracture; venous impotence is more common than arteriogenic ED.

Implications of olfactory lamina propria transplantation on hyperreflexia and myelinated fiber regeneration in rats with complete spinal cord transection.

Transplantation with olfactory ensheathing cells (OECs) has been adopted after several models of spinal cord injury (SCI) with the purpose of creating a favorable environment for the re-growth of injured axons. However, a consensus on the efficacy of this cellular transplantation has yet to be reached. In order to explore alternative parameters that could demonstrate the possible restorative properties of such grafts, the present study investigated the effects of olfactory lamina propria (OLP) transplantation on hyperreflexia and myelinated fiber regeneration in adult rats with complete spinal cord transection. The efficacy of OLP (graft containing OECs) and respiratory lamina propria (RLP, graft without OECs) was tested at different post-injury times (acutely, 2- and 4-week delayed), to establish the optimum period for transplantation. In the therapeutic windows used, OLP and RLP grafts produced no considerable improvements in withdrawal reflex responses or on the low-frequency dependent depression of H-reflex. Both lamina propria grafts produced comparable results for the myelinated fiber density and for the estimated total number of myelinated fibers at the lesion site, indicating that the delayed transplantation approach does not seem to limit the regenerative effects. However, animals transplanted with OLP 2 or 4 weeks after injury exhibit smaller myelin sheath thickness and myelinated fiber area and diameter at the lesion site compared to their respective RLP groups. Despite the ongoing clinical use of OECs, it is important to emphasize the need for more experimental studies to clarify the exact nature of the repair capacity of these grafts in the treatment of SCI.

Caries experience in individuals with cerebral palsy in relation to oromotor dysfunction and dietary consistency.

The aim of this study was to investigate caries experience in individuals with cerebral palsy (CP) who have oromotor dysfunction and relate it to age and dietary consistency. Noninstitutionalized individuals with CP (n = 108) aged 4-19 years (mean: 10 years, 1 month +/- SD 4 years, 5 months) were recruited for this study. Subjects who were severely impaired (35.2%) had orofacial motor dysfunction most frequently, followed by those who were slightly affected (27.7%), moderately affected (20.4%), and very slightly affected (16.7%). Age was a statistically significant factor for oromotor dysfunction (p= 0.007), with the youngest individuals having the most severe oromotor problems. Dietary consistency and oromotor function were statistically significant influence on the DMF index (p= 0.0352). The highest total DMF values were measured for individuals who were severely impaired and also the youngest, as well as for those receiving liquid diets. Early rehabilitation, intervention, and prevention are important for these individuals.

Hyposialorrhea as an early manifestation of Parkinson disease.

We sought to determine whether hyposialorrhea is an early manifestation of Parkinson disease (PD). We measured basal and citric acid stimulated secretion of whole saliva in 20 patients with early stage (Hoehn-Yahr I-II) PD who had motor symptoms for less than 1 year and were on no medication and 11 age matched controls. Compared to controls, PD patients had significant reduction of both basal (0.0964+/-0.08 vs 0.293+/-0.112 ml/min, p<0.001) and reflex (0.263+/-0.213 vs 0.537+/-0.313 ml/min, p<0.001) salivary secretion. Our findings confirm that hyposialorrhea is an early autonomic manifestation of PD.