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Publisher: BMC (Biomed Central)   (Total: 310 journals)

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Showing 201 - 310 of 310 Journals sorted alphabetically
Israel J. of Health Policy Research     Open Access   (SJR: 0.488, CiteScore: 1)
Italian J. of Pediatrics     Open Access   (Followers: 2, SJR: 0.685, CiteScore: 2)
J. for ImmunoTherapy of Cancer     Open Access   (Followers: 6, SJR: 2.798, CiteScore: 6)
J. of Angiogenesis Research     Open Access   (Followers: 2)
J. of Animal Science and Biotechnology     Open Access   (Followers: 4, SJR: 1.228, CiteScore: 3)
J. of Animal Science and Technology     Open Access   (Followers: 2)
J. of Biological Engineering     Open Access   (Followers: 3, SJR: 1.34, CiteScore: 4)
J. of Biological Research - Thessaloniki     Open Access   (SJR: 0.32, CiteScore: 2)
J. of Biomedical Semantics     Open Access   (Followers: 2, SJR: 0.952, CiteScore: 2)
J. of Cardiothoracic Surgery     Open Access   (Followers: 5, SJR: 0.607, CiteScore: 1)
J. of Cardiovascular Magnetic Resonance     Open Access   (Followers: 1, SJR: 2.292, CiteScore: 5)
J. of Clinical Movement Disorders     Open Access   (Followers: 3)
J. of Congenital Cardiology     Open Access   (Followers: 4)
J. of Cotton Research     Open Access  
J. of Diabetes and Metabolic Disorders     Open Access   (Followers: 8, SJR: 0.818, CiteScore: 2)
J. of Eating Disorders     Open Access   (Followers: 9, SJR: 0.693, CiteScore: 1)
J. of Environmental Health Science & Engineering     Open Access   (Followers: 1, SJR: 0.802, CiteScore: 3)
J. of Ethnobiology and Ethnomedicine     Open Access   (SJR: 0.693, CiteScore: 3)
J. of Experimental & Clinical Cancer Research     Open Access   (Followers: 3, SJR: 2, CiteScore: 6)
J. of Foot and Ankle Research     Open Access   (Followers: 5, SJR: 0.873, CiteScore: 2)
J. of Health, Population and Nutrition     Open Access   (Followers: 9, SJR: 0.875, CiteScore: 2)
J. of Hematology & Oncology     Open Access   (Followers: 3, SJR: 2.292, CiteScore: 6)
J. of Inflammation     Open Access   (Followers: 2, SJR: 1.101, CiteScore: 3)
J. of Intensive Care     Open Access   (Followers: 6, SJR: 1.137, CiteScore: 3)
J. of Medical Case Reports     Open Access   (Followers: 1, SJR: 0.331, CiteScore: 1)
J. of Molecular Psychiatry     Open Access   (Followers: 9, SJR: 0.355, CiteScore: 0)
J. of Nanobiotechnology     Open Access   (Followers: 4, SJR: 1.38, CiteScore: 5)
J. of Negative Results in BioMedicine     Open Access   (SJR: 0.483, CiteScore: 1)
J. of Neurodevelopmental Disorders     Open Access   (SJR: 1.71, CiteScore: 4)
J. of NeuroEngineering and Rehabilitation     Open Access   (Followers: 13, SJR: 1.515, CiteScore: 5)
J. of Neuroinflammation     Open Access   (Followers: 2, SJR: 2.336, CiteScore: 5)
J. of Occupational Medicine and Toxicology     Open Access   (Followers: 13, SJR: 0.591, CiteScore: 2)
J. of Orthopaedic Surgery and Research     Open Access   (Followers: 7, SJR: 0.751, CiteScore: 2)
J. of Otolaryngology - Head and Neck Surgery     Open Access   (Followers: 10, SJR: 0.827, CiteScore: 2)
J. of Ovarian Research     Open Access   (SJR: 1.008, CiteScore: 3)
J. of Pharmaceutical Policy and Practice     Open Access   (Followers: 4, SJR: 0.545, CiteScore: 1)
J. of Physiological Anthropology     Open Access   (Followers: 8, SJR: 0.514, CiteScore: 2)
J. of the Intl. AIDS Society     Open Access   (Followers: 9, SJR: 2.092, CiteScore: 4)
J. of the Intl. Society of Sports Nutrition     Open Access   (Followers: 57, SJR: 0.775, CiteScore: 2)
J. of Therapeutic Ultrasound     Open Access   (SJR: 0.906, CiteScore: 3)
J. of Translational Medicine     Open Access   (Followers: 4, SJR: 1.565, CiteScore: 4)
J. of Trauma Management & Outcomes     Open Access   (Followers: 6, SJR: 0.398, CiteScore: 1)
J. of Venomous Animals and Toxins including Tropical Diseases     Open Access   (Followers: 1, SJR: 0.573, CiteScore: 2)
Kidney Disease and Transplantation     Open Access   (Followers: 4)
Lipids in Health and Disease     Open Access   (SJR: 0.915, CiteScore: 2)
Longevity & Healthspan     Open Access   (Followers: 1)
Malaria J.     Open Access   (Followers: 8, SJR: 2.082, CiteScore: 3)
Marine Biodiversity Records     Open Access   (Followers: 4, SJR: 0.354, CiteScore: 1)
Microbial Cell Factories     Open Access   (Followers: 8, SJR: 1.443, CiteScore: 4)
Military Medical Research     Open Access   (Followers: 2, SJR: 0.601, CiteScore: 2)
Mobile DNA     Open Access   (SJR: 3.783, CiteScore: 5)
Molecular Autism     Open Access   (Followers: 9, SJR: 2.377, CiteScore: 5)
Molecular Brain     Open Access   (Followers: 3, SJR: 1.805, CiteScore: 4)
Molecular Cancer     Open Access   (Followers: 4, SJR: 2.778, CiteScore: 7)
Molecular Cytogenetics     Open Access   (Followers: 1, SJR: 0.623, CiteScore: 1)
Molecular Neurodegeneration     Open Access   (Followers: 2, SJR: 3.418, CiteScore: 7)
Movement Ecology     Open Access   (Followers: 9, SJR: 2.242, CiteScore: 4)
Multidisciplinary Respiratory Medicine     Open Access   (Followers: 4, SJR: 1.13, CiteScore: 2)
Multiple Sclerosis and Demyelinating Disorders     Open Access   (Followers: 5)
Neural Development     Open Access   (Followers: 2, SJR: 1.821, CiteScore: 2)
NeuroMetals     Open Access  
Neuropsychiatric Electrophysiology     Open Access  
Neurovascular Imaging     Open Access  
Nutrition & Metabolism     Open Access   (Followers: 10)
Nutrition J.     Open Access   (Followers: 7, SJR: 1.447, CiteScore: 4)
Orphanet J. of Rare Diseases     Open Access   (Followers: 1, SJR: 1.413, CiteScore: 3)
Particle and Fibre Toxicology     Open Access   (Followers: 2, SJR: 2.253, CiteScore: 8)
Patient Safety in Surgery     Open Access   (Followers: 4, SJR: 0.525, CiteScore: 1)
Pediatric Rheumatology     Open Access   (Followers: 7, SJR: 0.729, CiteScore: 2)
Philosophy, Ethics, and Humanities in Medicine     Open Access   (Followers: 1, SJR: 0.285, CiteScore: 1)
Pilot and Feasibility Studies     Open Access   (Followers: 1)
Plant Methods     Open Access   (Followers: 2, SJR: 1.885, CiteScore: 4)
PMC Biophysics     Open Access  
Population Health Metrics     Open Access   (Followers: 6, SJR: 1.954, CiteScore: 3)
Porcine Health Management     Open Access  
Proteome Science     Open Access   (Followers: 1, SJR: 0.792, CiteScore: 2)
Public Health Reviews     Open Access   (Followers: 2, SJR: 0.454, CiteScore: 1)
Radiation Oncology     Open Access   (Followers: 6, SJR: 1.293, CiteScore: 3)
Renal Replacement Therapy     Open Access   (Followers: 4)
Reproductive Biology and Endocrinology     Open Access   (Followers: 4, SJR: 1.203, CiteScore: 3)
Reproductive Health     Open Access   (Followers: 2, SJR: 1.228, CiteScore: 2)
Research Involvement and Engagement     Open Access  
Respiratory Research     Open Access   (Followers: 1, SJR: 1.644, CiteScore: 4)
Retrovirology     Open Access   (SJR: 1.855, CiteScore: 3)
Safety in Health     Open Access   (Followers: 63)
Scandinavian J. of Trauma, Resuscitation and Emergency Medicine     Open Access   (Followers: 12, SJR: 0.618, CiteScore: 2)
Scoliosis     Open Access   (Followers: 3)
Scoliosis and Spinal Disorders     Open Access   (Followers: 1, SJR: 0.843, CiteScore: 2)
Skeletal Muscle     Open Access   (Followers: 1, SJR: 2.32, CiteScore: 4)
Source Code for Biology and Medicine     Open Access   (SJR: 0.784, CiteScore: 2)
Sports Medicine, Arthroscopy, Rehabilitation, Therapy & Technology     Open Access   (Followers: 17)
Standards in Genomic Sciences     Open Access   (SJR: 0.768, CiteScore: 2)
Stem Cell Research & Therapy     Open Access   (Followers: 10, SJR: 1.685, CiteScore: 5)
Substance Abuse Treatment, Prevention and Policy     Open Access   (Followers: 8, SJR: 1.108, CiteScore: 2)
Sustainable Earth     Open Access  
Systematic Reviews     Open Access   (Followers: 11, SJR: 1.794, CiteScore: 4)
Theoretical Biology and Medical Modelling     Open Access   (Followers: 1, SJR: 0.783, CiteScore: 2)
Thrombosis J.     Open Access   (Followers: 4, SJR: 1.009, CiteScore: 3)
Thyroid Research     Open Access   (Followers: 1, SJR: 0.329, CiteScore: 1)
Tobacco Induced Diseases     Open Access   (Followers: 9, SJR: 0.716, CiteScore: 2)
Translational Neurodegeneration     Open Access   (Followers: 1, SJR: 1.901, CiteScore: 5)
Trials     Open Access   (Followers: 4, SJR: 1.291, CiteScore: 2)
Tropical Diseases, Travel Medicine and Vaccines     Open Access   (Followers: 1)
Vascular Cell     Open Access   (SJR: 1.349, CiteScore: 4)
Veterinary Research     Open Access   (Followers: 12)
Virology J.     Open Access   (Followers: 7, SJR: 1.053, CiteScore: 2)
Women's Midlife Health     Open Access   (Followers: 1)
World Allergy Organization J.     Open Access   (Followers: 1, SJR: 1.936, CiteScore: 6)
World J. of Emergency Surgery     Open Access   (Followers: 5, SJR: 1.098, CiteScore: 3)
World J. of Surgical Oncology     Open Access   (Followers: 1, SJR: 0.688, CiteScore: 2)

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Journal of Clinical Movement Disorders
Number of Followers: 3  

  This is an Open Access Journal Open Access journal
ISSN (Online) 2054-7072
Published by BMC (Biomed Central) Homepage  [310 journals]
  • Tongue involvement in embouchure dystonia: new piloting results using
           real-time MRI of trumpet players

    • Abstract: Background The embouchure of trumpet players is of utmost importance for tone production and quality of playing. It requires skilled coordination of lips, facial muscles, tongue, oral cavity, larynx and breathing and has to be maintained by steady practice. In rare cases, embouchure dystonia (EmD), a highly task specific movement disorder, may cause deterioration of sound quality and reduced control of tongue and lip movements. In order to better understand the pathophysiology of this movement disorder, we use real-time MRI to analyse differences in tongue movements between healthy trumpet players and professional players with embouchure dystonia. Methods Real-time MRI videos (with sound recording) were acquired at 55 frames per second, while 10 healthy subjects and 4 patients with EmD performed a defined set of exercises on an MRI-compatible trumpet inside a 3 Tesla MRI system. To allow for a comparison of tongue movements between players, temporal changes of MRI signal intensities were analysed along 7 standardized positions of the tongue using a customised MATLAB toolkit. Detailed results of movements within the oral cavity during performance of an ascending slurred 11-note harmonic series are presented. Results Playing trumpet in the higher register requires a very precise and stable narrowing of the free oral cavity. For this purpose the anterior section of the tongue is used as a valve in order to speed up airflow in a controlled manner. Conversely, the posterior part of the tongue is much less involved in the regulation of air speed. The results further demonstrate that healthy trumpet players control movements of the tongue rather precisely and stable during a sustained tone, whereas trumpet players with EmD exhibit much higher variability in tongue movements. Conclusion Control of the anterior tongue in trumpet playing emerges as a critical feature for regulating air speed and, ultimately, achieving a high-quality performance. In EmD the observation of less coordinated tongue movements suggests the presence of compensatory patterns in an attempt to regulate (or correct) pitch. Increased variability of the anterior tongue could be an objective sign of dystonia that has to be examined in further studies and extended to other brass instruments and may be also a potential target for therapy options.
      PubDate: 2019-11-12
       
  • Publisher Correction to: Journal of Clinical Movement Disorders, volume 6

    • Abstract: An error occurred during the publication of an article in Journal of Clinical Movement Disorders. This article was published in volume 6 with a duplicate citation number.
      PubDate: 2019-08-07
       
  • Huntington’s disease: a forensic risk factor in women

    • Abstract: Background Huntington’s disease (HD) is an autosomal dominant, neurodegenerative disorder. Associated cognitive deficits including impulsivity and disinhibition are the same factors that also predispose to forensic risk. Men tend to be perpetrators of more severe violent behaviours than women and women are less likely than men to be arrested for violence. This finding is not applicable in the case of women with Huntington’s disease and explored in the three clinical cases of women with HD and their forensic histories that are subsequently described. Case presentation ‘A’ was admitted from court following a charge of arson and reckless behavior, with increasing severity and frequency of self-harm and attempted suicide. This case demonstrates someone who had previously presented to psychiatric services on multiple occasions for various reasons, culminating in a serious criminal charge of arson due to psychiatric symptoms associated with HD. ‘B’ was arrested and imprisoned after having been charged with actual bodily harm (ABH) for assaulting her partner and young daughter then breaking her bail conditions. Although she was gene positive for HD she had no neurological symptoms of the disease. B was given leave but needed to be recalled to hospital by police. Six weeks later the medical recommendation for a court imposed hospital order was overturned as B presented and articulated her case so convincingly in court. This case demonstrates that even in the absence of psychiatric history or movement disorder there may be substantial forensic risk indicated by subtle underlying cognitive deficits due to changes in executive function affecting the frontal lobes. ‘C’ was admitted to acute psychiatric services after being found wandering in traffic wanting to die. She had been diagnosed with HD in the previous year and had a long criminal record on a background of alcohol dependency. Following transfer to a specialist psychiatric unit, she engaged well with a neurobehavioural levels system which rewards desirable and appropriate behaviours and she responded well to a highly structured environment resulting in discharge to a community placement. Conclusions These three case studies aim to highlight the need to raise awareness of the increased forensic risk in women with HD. Although criminal behaviour is less frequently observed in women than men and usually violence is less severe in women, HD may cause or contribute to criminal behaviour that can be violent in nature in women who are gene carriers for HD even in the absence of movement disorder, psychiatric symptoms or overt cognitive deficits. Assessment and earlier treatment in appropriate hospital settings may successfully contain and modify behaviours leading to reduced levels of risk and recidivism in this vulnerable patient group.
      PubDate: 2019-07-24
       
  • Telepsychiatry for patients with movement disorders: a feasibility and
           patient satisfaction study

    • Abstract: Background Telemedicine is a convenient health service delivery modality for patients with movement disorders, including Parkinson’s disease (PD), but is currently underutilized in the management of associated psychiatric symptoms. This study explored the feasibility of and patient satisfaction with telepsychiatry services at an academic movement disorders center. Methods All patients seen by telepsychiatry between January and December 2017 at the UCSF Movement Disorders and Neuromodulation Center were invited to participate. Participation was voluntary. Patients received an initial survey after the first telepsychiatry visit and satisfaction surveys after each visit. Survey responses were collected online via Research Electronic Data Capture (REDCap). Frequencies were calculated for categorical variables, and means and standard deviations were generated for continuous variables. Results Thirty-three patients (79% with PD; 72% Medicare recipients; 64% men; mean age, 61.1 ± 10.5 years; mean distance to clinic, 79.9 ± 81.3 miles) completed a total of 119 telepsychiatry and 62 in-person visits. Twenty-two initial surveys and 50 satisfaction surveys (from 21 patients) were collected. Patients were very satisfied with the care (95%), convenience (100%), comfort (95%), and overall visit (95%). Technical quality was somewhat lower rated, with 76% patients reporting they were very satisfied, while 19% were satisfied. All patients would recommend telemedicine to friends or family members. Conclusions Telepsychiatry is a feasible option for patients with movement disorders, leading to high patient satisfaction and improved access to care. Technical aspects still need optimization. Whenever available, telepsychiatry can be considered in addition to in-person visits. Future studies with larger samples should explore its impact on patient care outcomes and caregiver burden.
      PubDate: 2019-06-06
       
  • Transcranial magnetic stimulation therapy for focal leg dystonia: a case
           report

    • Abstract: Background Dystonia is a debilitating disease that causes abnormal, often repetitive, movements, postures or both. The pathophysiology is unknown but related to loss of neuronal inhibition, aberrant sensorimotor integration, and/or derangements of synaptic plasticity. Current treatments include pharmacotherapy, botulinum toxin injections and deep brain stimulation (DBS). The response to these treatments are often limited and carry the risk of side effects requiring alternative therapies such as non-invasive brain stimulation. Case presentation We present a case report of a 65-year -old man with refractory focal ‘task-specific’ dystonia. The treatment plan included 10-daily sessions of 1 Hz, 2600 pulses of repetitive transcranial magnetic stimulation (rTMS) targeting the primary motor cortex. Conclusion There were no clinical benefits noticed. Currently, there are no rTMS protocol treatments for dystonia. Publication of negative results will help in refining the optimal stimulation parameters, thus maximizing the effectiveness and reproducibility of future therapeutic protocols.
      PubDate: 2019-03-08
       
  • Correction to: Medical treatment of dystonia

    • Abstract: Following publication of the original article [1], the authors reported that the videos referred to in their article were not accessible to readers.
      PubDate: 2018-11-16
       
  • Characterization of vitamin D supplementation and clinical outcomes in a
           large cohort of early Parkinson’s disease

    • Abstract: Background Vitamin D (VitD) deficiency is common in Parkinson’s disease (PD) and has been raised as a possible PD risk factor. In the past decade, VitD supplementation for potential prevention of age related conditions has become more common. In this study, we sought to characterize VitD supplementation in early PD and determine as an exploratory analysis whether baseline characteristics or disease progression differed according to reported VitD use. Methods We analyzed data from the National Institutes of Health Exploratory Trials in Parkinson’s Disease (NET-PD) Long-term study (LS-1), a longitudinal study of 1741 participants. Subjects were divided into following supplement groups according to subject exposure (6 months prior to baseline and during the study): no VitD supplement, multivitamin (MVI), VitD ≥400 IU/day, and VitD + multivitamin (VitD+MVI). Clinical status was followed using the Unified Parkinson’s Disease Rating Scale, Symbol Digit Modalities Test, total daily levodopa equivalent dose, and Parkinson’s Disease Questionnaire. Results About 5% of subjects took VitD alone, 7% took VitD+MVI, 34% took MVI alone, while 54% took no supplement. Clinical outcomes at 3 years were similar across all groups. Conclusion This study shows VitD supplementation ≥400 IU/day was not common in early PD and that its use was similar to that seen in the US population. At 3 years, there was no difference in disease progression according to vitamin D supplement use.
      PubDate: 2018-10-31
       
  • SCA2 presenting as a focal dystonia

    • Abstract: Background Spinocerebellar ataxia 2 (SCA2) is an autosomal dominant neurodegenerative disorder caused by CAG repeat expansions in ATXN2 on chromosome 12q24. Patients present with adult-onset progressive gait ataxia, slow saccades, nystagmus, dysarthria and peripheral neuropathy. Dystonia is known to occur as SCA2 advances, but is rarely the presenting symptom. Case presentation A 43-year-old right handed woman presented with focal dystonia of the right hand which started two years earlier with difficulty writing. There were only mild cerebellar signs. Her mother was reported to have a progressive gait disorder and we subsequently learned that she had SCA2. A total of 10 maternal family members were similarly affected. Over the course of 10 years, the patient’s cerebellar signs progressed only mildly however the dystonia worsened to the extent of inability to use her right hand. Dystonia did not improve significantly with botulinum toxin, levodopa or trihexyphenidyl, but has shown marked improvement since DBS implantation in the GPi. Conclusions We describe a patient with SCA2 who presented with focal dystonia of the right upper extremity. Subtle cerebellar signs as well as the family history became especially important given the absence of predominant gait ataxia. Our case emphasizes that focal dystonia is not only a feature of SCA2, but can also rarely be the presenting sign as well as the most prominent feature during the disease course.
      PubDate: 2018-08-13
       
  • Inpatient care for stiff person syndrome in the United States: a
           nationwide readmission study

    • Abstract: Background Stiff person syndrome (SPS) is a progressive neurological disorder characterized by axial muscle rigidity and involuntary spasms. Autoimmune and neoplastic diseases are associated with SPS. Our study objectives were to describe inpatient care for SPS in the United States and characterize 30-day readmissions. Methods We queried the 2014 Nationwide Readmission Database for hospitalizations where a diagnosis of SPS was recorded. For readmission analyses, we excluded encounters with missing length of stay, hospitalization deaths, and out-of-state and December discharges. National estimates of index hospitalizations and 30-day readmissions were computed using survey weighting methods. Unconditional logistic regression was used to examine associations between demographic, clinical, and hospital characteristics and readmission. Results There were 836 patients with a recorded diagnosis of SPS during a 2014 hospitalization. After exclusions, 703 patients remained, 9.4% of which were readmitted within 30 days. Frequent reasons for index hospitalization were SPS (27.8%) and diabetes with complications (5.1%). Similarly, readmissions were predominantly for diabetes complications (24.2%) and SPS. Most readmissions attributed to diabetes complications (87.5%) were to different hospitals. Female sex (OR, 3.29; CI: 1.22–8.87) and routine discharge (OR, 0.26; CI: 0.10–0.64) were associated with readmission, while routine discharge (OR, 0.18; CI: 0.04–0.89) and care at for-profit hospitals (OR, 10.87; CI: 2.03–58.25) were associated with readmission to a different hospital. Conclusions Readmissions in SPS may result from disease complications or comorbid conditions. Readmissions to different hospitals may reflect specialty care, gaps in discharge planning, or medical emergencies. Studies are required to determine if readmissions in SPS are preventable.
      PubDate: 2018-08-06
       
  • Spectrum of practice in the routine management of cervical dystonia with
           abobotulinumtoxinA: findings from three prospective open-label
           observational studies

    • Abstract: Background Cervical dystonia is a heterogeneous disorder with several possible presentations, for which first-line therapy is often botulinum toxin (BoNT). In routine clinical practice the success of each BoNT injection is dependent on several variables, including individual presentation and injection technique. Large multicenter, observational studies provide important information on individualized administration strategies that cannot be otherwise ascertained from controlled clinical trials. In this meta-analysis of patient level data, we aimed to evaluate the clinical characteristics of patients with cervical dystonia undergoing routine treatment with botulinum toxin, specifically abobotulinumtoxinA. We also aimed to characterize current abobotulinumtoxinA injection techniques and parameters and to explore international differences in patient presentation and treatment. Methods This was a meta-analysis of baseline data from three prospective, international, multicenter, observational studies (NCT01314365, NCT00833196 and NCT01753349) of botulinum toxin treatment for the routine management of adult cervical dystonia. Results Data presented illustrate the significant heterogeneity of CD presentation in routine practice. Most subjects presented with a complex pattern of dystonic movements and the majority had additional components of shoulder elevation, tremor and/or jerk. Dosing was generally in accordance with that recommended in the abobotulinumtoxinA prescribing information, although the range of dosing also indicates that injections are tailored to individual presentation. Sub-group analyses at the country level revealed distinct differences in injection practice. Conclusions This meta-analysis is based on the largest dataset of subjects with cervical dystonia studied to date. The heterogeneity revealed in our baseline findings support the need to develop consistent, practical and comprehensive best practice guidelines.
      PubDate: 2018-07-09
       
  • Crossing barriers: a multidisciplinary approach to children and adults
           with young-onset movement disorders

    • Abstract: Background Diagnosis of less common young-onset movement disorders is often challenging, requiring a broad spectrum of skills of clinicians regarding phenotyping, normal and abnormal development and the wide range of possible acquired and genetic etiologies. This complexity often leads to considerable diagnostic delays, paralleled by uncertainty for patients and their families. Therefore, we hypothesized that these patients might benefit from a multidisciplinary approach. We report on the first 100 young-onset movement disorders patients who visited our multidisciplinary outpatient clinic. Methods Clinical data were obtained from the medical records of patients with disease-onset before age 18 years. We investigated whether the multidisciplinary team, consisting of a movement disorder specialist, pediatric neurologist, pediatrician for inborn errors of metabolism and clinical geneticist, revised the movement disorder classification, etiological diagnosis, and/or treatment. Results The 100 referred patients (56 males) had a mean age of 12.5 ± 6.3 years and mean disease duration of 9.2 ± 6.3 years. Movement disorder classification was revised in 58/100 patients. Particularly dystonia and myoclonus were recognized frequently and supported by neurophysiological testing in 24/29 patients. Etiological diagnoses were made in 24/71 (34%) formerly undiagnosed patients, predominantly in the genetic domain. Treatment strategy was adjusted in 60 patients, of whom 43 (72%) reported a subjective positive effect. Conclusions This exploratory study demonstrates that a dedicated tertiary multidisciplinary approach to complex young-onset movement disorders may facilitate phenotyping and improve recognition of rare disorders, with a high diagnostic yield and minimal diagnostic delay. Future studies are needed to investigate the cost-benefit ratio of a multidisciplinary approach in comparison to regular subspecialty care.
      PubDate: 2018-04-06
       
  • Atrophy of the putamen at time of clinical motor onset in Huntington’s
           disease: a 6-year follow-up study

    • Abstract: Background Striatal atrophy is detectable many years before the predicted onset of motor symptoms in premanifest Huntington’s disease (HD). However, the extent of these neurodegenerative changes at the actual time of conversion from premanifest to a motor manifest disease stage is not known. With this study, we aimed to assess differences in degree and rate of atrophy between converters, i.e. premanifest individuals who develop clinically manifest HD over the course of the study, and non-converters. Methods Structural T1-weighted Magnetic Resonance Imaging (MRI) scans were used to measure volumes of seven subcortical structures. Images were acquired yearly over a maximum follow-up period of 6 years (mean 4.8 ± 1.8 years) in 57 participants (healthy controls n = 28, premanifest HD gene carriers n = 29). Of the premanifest HD gene carriers, 20 individuals clinically developed manifest HD over the course of the study, i.e. converters, whereas 9 individuals did not show any clinical signs. Differences between controls, converters and non-converters in volumetric decline over time were assessed using a one-way ANCOVA with age, gender and intracranial volume as covariates. All data were adjusted for multiple comparisons using Bonferonni correction. Results The putamen showed a significant difference in volume at the time of conversion in the converters group compared to the non-converters group (adjusted p = 0.04). Although, volumes of all other subcortical structures were smaller at time of conversion compared to non-converters and controls, these differences were not statistically significant. Over time, rate of volumetric decline in all subcortical structures in converters did not significantly differ from non-converters. Conclusions Putamen volume is smaller at the time of manifestation of motor symptoms compared with premanifest HD that not showed any clinical disease progression during the course of this 6-year follow-up study.
      PubDate: 2018-03-23
       
  • Cognitive fluctuations in Parkinson’s disease dementia: blood pressure
           lability as an underlying mechanism

    • Abstract: Background Cognitive fluctuations refer to alterations in cognition, attention, or arousal occurring over minutes to hours, most commonly in patients with dementias associated with advanced Lewy body pathology. Their pathophysiologic underpinning remains undetermined. Case presentation We documented serial blood pressure (BP) measurements in an 86-year-old man with Parkinson’s disease dementia experiencing cognitive fluctuations during an office visit. This patient’s associated dysautonomia included labile BP with orthostatic hypotension and nocturnal hypertension. A spontaneous episode of unresponsiveness occurred while his BP was 72/48. His mental status began to recover immediately as his BP increased to 84/56 when he was placed in a recumbent position; it fully returned to baseline when it reached 124/66 within 1 min. His heart rate remained in the mid-to-high 60s throughout. Subsequent treatment with midodrine markedly reduced the frequency of cognitive fluctuations. Conclusions Paroxysmal hypotension may represent an explanatory mechanism for cognitive fluctuations, a common clinical feature in patients with Parkinson’s disease dementia and dementia with Lewy bodies.
      PubDate: 2018-02-13
       
  • Adductor focal laryngeal Dystonia: correlation between clinicians’
           ratings and subjects’ perception of Dysphonia

    • Abstract: Background Although considerable research has focused on the etiology and symptomology of adductor focal laryngeal dystonia (AD-FLD), little is known about the correlation between clinicians’ ratings and patients’ perception of this voice disturbance. This study has five objectives: first, to determine if there is a relationship between subjects’ symptom-severity and its impact on their quality of life; to compare clinicians’ ratings with subjects’ perception of the individual characteristics and severity of AD-FLD; to document the subjects’ perception of changes in dysphonia since diagnosis; to record the frequency of voice arrest during connected speech; and, finally, to calculate inter-clinician reliability based on results from the Unified Spasmodic Dysphonia Rating Scale (USDRS) (Stewart et al, J Voice 1195-10, 1997). Methods Sixty subjects with AD-FLD who were receiving ongoing injections of BoNT participated in this study. Subjects’ mean age was 60.78 years and their mean duration of symptoms was 16.1 years. Subjects completed the Disease Symptom Questionnaire (DSQ) (specifically designed for this study) and the Voice Handicap Index-10 (VHI-10) (Jacobson et al, Am J Speech Lang Pathol 6:66–70, 1997) to measure the symptoms of their dysphonia and the impact of the disease on their quality of life. Two speech-language pathologists and two laryngologists used the Voice Arrest Measure (VAM) (specifically designed for this study) and the USDRS to independently rate voice recordings of 56/60 subjects. Results The mean VHI-10 score was 21.3 which is clinically significant. The results of the DSQ and the USDRS were highly correlated. The most severe symptoms identified by both subjects and clinicians were roughness, strain-strangled voice quality, and increased expiratory effort. Voice arrest, aphonia, and tremor were uncommon. Subjects rated their current voice quality at the time of reinjection (i.e., at the time of the study) as significantly better than at the time of their initial AD-FLD diagnosis (p < 0.0001). Inter-clinician reliability on the USDRS was significant at the 0.001 level. Conclusions The findings from the VHI-10 suggest that AD-FLD has a profound impact on quality of life. The results of the DSQ and the USDRS suggest that there is a strong correlation between subjects’ perception and clinicians’ assessment of the individual symptoms and the severity of the dysphonia. The findings from the VAM suggest that voice arrests are infrequent in subjects with AD-FLD who are receiving ongoing BoNT injections. The strong inter-clinician reliability on the USDRS suggests that it is an appropriate measure for identifying symptoms and severity of AD-FLD.
      PubDate: 2017-12-13
       
  • An unusual presentation of tyrosine hydroxylase deficiency

    • Abstract: Background Dopa-responsive dystonia (DRD) has largely been associated with autosomal dominant mutations in the GCH1 gene leading to GTP cyclohydrolase 1 deficiency. More recently, a deficiency in tyrosine hydroxylase (TH) has been recognized to cause DRD. This is a rare disorder resulting from genetic mutations in the TH gene on chromosome 11. The phenotype ranges from DRD with complete resolution on levodopa to infantile parkinsonism and encephalopathy only partially responsive to levodopa. Here we discuss an adult with TH deficiency with a history of possible parkinsonism and dystonia responsive to levodopa, notable for a residual dynamic segmental dystonia. Case presentation Our patient grew up in rural Myanmar with limited medical care. Childhood was normal except for episodic illness with difficulty moving and speaking. At 18 years he developed difficulty writing. At 21 years he could not speak, walk, or write and was taken to a city hospital. Multiple medications were tried without benefit until he received carbidopa/levodopa, to which he had a miraculous response. Since then he has attempted to come off medication, however after several weeks his symptoms returned. On presentation to us at 31 years he was taking 450 mg levodopa/day and 4 mg trihexyphenidyl/day. He had a dynamic dystonia in his neck and trunk, subtle at rest and prominent with walking. He exhibited a sensory trick when touching his hand to his chin; improvement occurred to a lesser degree when he imagined touching his chin, and to an even lesser degree when the examiner touched his chin. He had no parkinsonism. He underwent genetic testing which revealed a homozygous variant mutation in the TH gene (p.Thr494Met) leading to a diagnosis of autosomal recessive tyrosine hydroxylase deficiency. Conclusions TH deficiency can cause a broad range of clinical symptoms and severity. As more cases are discovered, the phenotype expands. Here we describe a unique case of DRD and possible parkinsonism due to TH deficiency with residual symptoms of dystonia that was task dependent and responded to a sensory trick. In addition, while the history is limited, it is possible he may have had episodes similar to “lethargy-irritability crises” seen in more severe cases. In large part he fits within the milder form of TH hydroxylase deficiency.
      PubDate: 2017-12-05
       
  • Meta-research metrics matter: letter regarding article “indirect
           tolerability comparison of Deutetrabenazine and Tetrabenazine for
           Huntington disease”

    • Abstract: Here we discuss the report by Claassen and colleagues describing an indirect treatment comparison between tetrabenazine and deutetrabenazine for chorea in Huntington’s disease using individual patient data. We note the potential for discrepancies in apparently statistically significant findings, due to the rank reversal phenomenon. We provide some cautionary observations and suggestions concerning the limitations of indirect comparisons and the low likelihood that good quality evidence will become available to guide clinical decision comparing these two agents.
      PubDate: 2017-11-22
       
  • Primary progressive apraxia: an unusual ideomotor syndrome

    • Abstract: Background Primary progressive apraxia is a rare form of apraxia in the absence of dementia which develops insidiously and is slowly progressive. Most reports of patients with apraxia also describe coexisting aphasias or involve additional apraxias with affected speech, usually in the setting of neurodegenerative diseases such as corticobasal degeneration, Alzheimer’s disease or frontotemporal dementia. The aim of this report is to describe and demonstrate by video two cases of isolated primary progressive ideomotor apraxia seen in our clinic. Case presentation We describe two patients with 2–5 years of progressive difficulty using their hands, despite having intact cognition and lack of correlating lesions on imaging. Conclusion We report two cases of primary progressive apraxia that may be early presentations of taupathic disease in both patients. In both cases, there is isolated profound ideomotor apraxia of the hands, with preserved cognition, language skills, muscle power and tone, and gait. There are no correlating lesions on imaging.
      PubDate: 2017-11-14
       
  • Pure akinesia with gait freezing: a clinicopathologic study

    • Abstract: Background Pure akinesia with gait freezing is a rare syndrome with few autopsied cases. Severe freezing of gait occurs in the absence of bradykinesia and rigidity. Most autopsies have revealed progressive supranuclear palsy. We report the clinical and postmortem findings of two patients with pure akinesia with gait freezing, provide video recordings of these patients, and review the literature describing similar cases. We also discuss bradykinesia, hypokinesia and akinesia in the context of this clinical syndrome. Case presentation Two patients with the syndrome of pure akinesia with gait freezing were examined by the same movement disorder specialist at least annually for 9 and 18 years. Both patients initially exhibited freezing, tachyphemia, micrographia and festination without bradykinesia and rigidity. Both autopsies revealed characteristic tau pathology of progressive supranuclear palsy, with nearly total neuronal loss and gliosis in the subthalamus and severe neuronal loss and gliosis in the globus pallidus and substantia nigra. Previously published postmortem studies revealed that most patients with this syndrome had progressive supranuclear palsy or pallidonigroluysian atrophy. Conclusions Pallidonigroluysian degeneration produces freezing and festination in the absence of generalized slowing (bradykinesia). Freezing and festination are commonly regarded as features of akinesia. Akinesia literally means absence of movement, and akinesia is commonly viewed as an extreme of bradykinesia. The pure akinesia with gait freezing phenotype illustrates that bradykinesia and akinesia should be viewed as separate phenomena.
      PubDate: 2017-10-17
       
  • Are we missing non-motor seizures in Parkinson’s disease' Two
           case reports

    • Abstract: Background Parkinson’s disease (PD) is predominantly recognized for its motor symptoms, but patients struggle from a morbid and heterogeneous collection of non-motor symptoms (NMS-PD) that can affect their quality of life even more. NMS-PD is a rather generalized term and the heterogeneity and non-specific nature of many symptoms poses a clinical challenge when a PD patient presents with non-motor complaints that may not be NMS-PD. Case presentation We report two patients with idiopathic PD who presented with acute episodes of cognitive changes. Structural brain images, cardiovascular and laboratory assessment were unremarkable. Both patients experienced a considerable delay before receiving an epilepsy-evaluation, at which point electroencephalogram abnormalities supported the diagnosis of focal non-motor seizures with alteration of awareness. Antiepileptic therapy was implemented and was effective in both cases. Conclusions Diagnosing non-motor seizures can be challenging. However, PD patients pose an even greater challenge given their eclectic non-motor clinical manifestations and other disease-related complications that could confound and mislead adequate clinical interpretation. Our two cases provide examples of non-motor seizures that may mimic non-motor symptoms of PD. Treating physicians should always consider other possible causes of non-motor symptoms that may coexist in PD patients. Epilepsy work-up should be contemplated in the differential of acute changes in cognition, behavior, or alertness.
      PubDate: 2017-09-05
       
  • A C omputerized Co gnitive behavioral therapy R andomized, Controlle d ,
           pilot trial for insomnia in P arkinson D isease ( ACCORD-PD )

    • Abstract: Background Parkinson disease (PD) is associated with a high prevalence of insomnia, affecting up to 88% of patients. Pharmacotherapy studies in the literature addressing insomnia in PD reveal disappointing and inconsistent results. Cognitive behavioral therapy (CBT) is a novel treatment option with durable effects shown in primary insomnia. However, the lack of accessibility and expense can be limiting. For these reasons, computerized CBT for insomnia (CCBT-I) has been developed. The CCBT-I program is a 6-week web-based course consisting of daily “lessons” providing learnable skills and appropriate recommendations to help patients improve their sleep habits and patterns. Methods We conducted a single-center, pilot, randomized controlled trial comparing CCBT-I versus standardized sleep hygiene instructions to treat insomnia in PD. Twenty-eight subjects with PD experiencing insomnia, with a score > 11 on the Insomnia Severity Index (ISI) were recruited. Based on a 6-point improvement in ISI in treatment group when compared to controls and an alpha = 0.05 and beta of 0.1 (power = 90%) a sample size of 11 patients (on active treatment) were required to detect this treatment effect using a dependent sample t-test. Results In total, 8/14 (57%) subjects randomized to CCBT-I versus 13/14 (93%) subjects randomized to standard education completed the study. Among completers, the improvement in ISI scores was greater with CCBT-I as compared to standard education (−7.9 vs −3.5; p = 0.03). However, in an intention-to-treat analysis, where all enrolled subjects were included, the change in ISI between groups was not significant (−.4.5 vs −3.3; p = 0.48), likely due to the high dropout rate in the CCBT-I group (43%). Conclusion This pilot study suggests that CCBT-I can be an effective treatment option for PD patients with insomnia when the course is thoroughly completed. High drop-out rate in our study shows that although effective, it may not be a generalizable option; however, larger studies are needed for further evaluation.
      PubDate: 2017-08-21
       
 
 
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