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Journal of Clinical Movement Disorders

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https://www.readbyqxmd.com/read/29225908/an-unusual-presentation-of-tyrosine-hydroxylase-deficiency
#1
Linn E Katus, Steven J Frucht
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...
2017: Journal of Clinical Movement Disorders
https://www.readbyqxmd.com/read/29201386/meta-research-metrics-matter-letter-regarding-article-indirect-tolerability-comparison-of-deutetrabenazine-and-tetrabenazine-for-huntington-disease
#2
Filipe B Rodrigues, Gonçalo S Duarte, João Costa, Joaquim J Ferreira, Edward J Wild
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...
2017: Journal of Clinical Movement Disorders
https://www.readbyqxmd.com/read/29051824/pure-akinesia-with-gait-freezing-a-clinicopathologic-study
#3
Ahmad Elkouzi, Esther N Bit-Ivan, Rodger J Elble
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...
2017: Journal of Clinical Movement Disorders
https://www.readbyqxmd.com/read/28879018/are-we-missing-non-motor-seizures-in-parkinson-s-disease-two-case-reports
#4
Andre Y Son, Alberto Cucca, Shashank Agarwal, Anli Liu, Alessandro Di Rocco, Milton C Biagioni
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...
2017: Journal of Clinical Movement Disorders
https://www.readbyqxmd.com/read/28852567/a-computerized-cognitive-behavioral-therapy-randomized-controlled-pilot-trial-for-insomnia-in-parkinson-disease-accord-pd
#5
Shnehal Patel, Oluwadamilola Ojo, Gencer Genc, Srivadee Oravivattanakul, Yang Huo, Tanaporn Rasameesoraj, Lu Wang, James Bena, Michelle Drerup, Nancy Foldvary-Schaefer, Anwar Ahmed, Hubert H Fernandez
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...
2017: Journal of Clinical Movement Disorders
https://www.readbyqxmd.com/read/28794890/pathophysiology-of-writer-s-cramp-an-exploratory-study-on-task-specificity-and-non-motor-symptoms-using-an-extended-fine-motor-testing-battery
#6
Ali Amouzandeh, Michael Grossbach, Joachim Hermsdörfer, Eckart Altenmüller
BACKGROUND: Writer's cramp (WC) is a task-specific focal dystonia which manifests itself as abnormal postures interfering with motor performance. As the spread of motor symptoms remains controversial and non-motor symptoms are widely discussed, in this exploratory study, we explore the pathophysiology of WC, focusing on task-specificity and the psychological profiles of WC patients. METHODS: In 14 right-handed WC patients and matched controls, we assessed motor control by applying motor performance tests (Vienna Test Series), as well as using writing analysis and grip-force measurements...
2017: Journal of Clinical Movement Disorders
https://www.readbyqxmd.com/read/28770096/italian-validation-of-the-belastungsfragebogen-parkinson-kurzversion-bela-p-k-a-disease-specific-questionnaire-for-evaluation-of-the-subjective-perception-of-quality-of-life-in-parkinson-s-disease
#7
Paola Ortelli, Roberto Maestri, Marianna Zarucchi, Veronica Cian, Elisa Urso, Francesca Giacomello, Davide Ferrazzoli, Giuseppe Frazzitta
BACKGROUND: Quality of life (QoL) is the sense of well-being perceived by people. The improvement of parkinsonian patient's QoL is a crucial goal for clinicians involved in rehabilitative care. In order to provide an appropriate endpoint for the assessment of the effectiveness of rehabilitation treatments on QoL of patients with Parkinson's Disease (PD), in this study we have first translated and then validated the Belastungsfragebogen Parkinson kurzversion (BELA-P-k). This tool allows evaluating separately two crucial aspects: i) the loss of personal autonomy in activities of daily life and ii) the psychological and psychosocial impact of the disease...
2017: Journal of Clinical Movement Disorders
https://www.readbyqxmd.com/read/28649394/functional-neuroimaging-and-chorea-a-systematic-review
#8
REVIEW
Debra J Ehrlich, Ruth H Walker
Chorea is a hyperkinetic movement disorder consisting of involuntary irregular, flowing movements of the trunk, neck or face. Although Huntington's disease is the most common cause of chorea in adults, chorea can also result from many other neurodegenerative, metabolic, and autoimmune conditions. While the pathophysiology of these different conditions is quite variable, recent advances in functional imaging have enabled the development of new methods for analysis of brain activity and neuronal dysfunction. In this paper we review the growing body of functional imaging data that has been performed in chorea syndromes and identify particular trends, which can be used to better understand the underlying network changes within the basal ganglia...
2017: Journal of Clinical Movement Disorders
https://www.readbyqxmd.com/read/28593050/rimabotulinumtoxinb-in-sialorrhea-systematic-review-of-clinical-trials
#9
REVIEW
Khashayar Dashtipour, Roongroj Bhidayasiri, Jack J Chen, Bahman Jabbari, Mark Lew, Diego Torres-Russotto
OBJECTIVE: The aim of this study was to examine the efficacy, safety and dosing practices of rimabotulinumtoxinB (BoNT-B) for the treatment of patients with sialorrhea based on a systematic review of clinical trials. METHODS: A systematic literature review was performed to identify randomized controlled trials and other comparative clinical studies of BoNT-B for the treatment of sialorrhea published in English between January 1999 and December 2015. Medical literature databases (PubMed, Cochrane Library, and EMBASE) were searched and a total of 41 records were identified...
2017: Journal of Clinical Movement Disorders
https://www.readbyqxmd.com/read/28546865/parkinson-disease-in-gaucher-disease
#10
Federico Rodriguez-Porcel, Alberto J Espay, Miryam Carecchio
BACKGROUND: Gaucher disease (GD) is an inborn error of metabolism caused by mutations in the gene (GBA) coding for glucocerebrosidase (GCase), inherited in an autosomal recessive pattern. GD patients have up to 9% risk of developing PD. CASE PRESENTATION: We report two patients with GD that developed PD at different disease stages. CONCLUSION: We reviewed the literature on the coexistence of PD and GD and speculate that the severity of symptoms may be related to the type of GBA mutation inherited...
2017: Journal of Clinical Movement Disorders
https://www.readbyqxmd.com/read/28496986/a-case-of-stiff-dog-syndrome-associated-with-anti-glutamic-acid-decarboxylase-antibodies
#11
Theresa E Pancotto, John H Rossmeisl
BACKGROUND: The stiff person syndrome (SPS) is a rare and debilitating autoimmune disorder with an unknown pathogenesis and variable clinical presentation that can present a diagnostic challenge. Although entities that clinically mimic stiff-person spectrum disorders (SPSD) have manifested in horses, they have not been reported in dogs. CASE PRESENTATION: We describe a 2-year-old beagle dog presented for progressive attacks of muscular rigidity and lordosis with superimposed spasms of the appendicular muscles triggered by tactile stimulation which resulted in marked gait impairment...
2017: Journal of Clinical Movement Disorders
https://www.readbyqxmd.com/read/28465830/economics-of-botulinum-toxin-therapy-influence-of-the-abobotulinumtoxina-package-size-on-the-costs-of-botulinum-toxin-therapy
#12
Dirk Dressler, Fereshte Adib Saberi
BACKGROUND: AbobotulinumtoxinA (Dysport®) was distributed for many years in vials containing 500MU (D500). Recently a new 300MU vial (D300) was additionally introduced (introduction). We wanted to explore whether more differentiated package sizes allow for more economic use of Dysport® in a large neurological botulinum toxin (BT) outpatient clinic. METHODS: The study followed a retrospective chart review design based on our digital BT therapy data bank. All patients receiving Dysport® exclusively in a constant dose during the observation period (introduction ± 7 months) were included...
2017: Journal of Clinical Movement Disorders
https://www.readbyqxmd.com/read/28461905/dystonic-storm-a-practical-clinical-and-video-review
#13
REVIEW
Pichet Termsarasab, Steven J Frucht
Dystonic storm is a frightening hyperkinetic movement disorder emergency. Marked, rapid exacerbation of dystonia requires prompt intervention and admission to the intensive care unit. Clinical features of dystonic storm include fever, tachycardia, tachypnea, hypertension, sweating and autonomic instability, often progressing to bulbar dysfunction with dysarthria, dysphagia and respiratory failure. It is critical to recognize early and differentiate dystonic storm from other hyperkinetic movement disorder emergencies...
2017: Journal of Clinical Movement Disorders
https://www.readbyqxmd.com/read/28413688/presentation-and-care-of-a-family-with-huntington-disease-in-a-resource-limited-community
#14
Jarmal Charles, Lindyann Lessey, Jennifer Rooney, Ingmar Prokop, Katherine Yearwood, Hazel Da Breo, Patrick Rooney, Ruth H Walker, Andrew K Sobering
BACKGROUND: In high-income countries patients with Huntington disease (HD) typically present to healthcare providers after developing involuntary movements, or for pre-symptomatic genetic testing if at familial risk. A positive family history is a major guide when considering the decision to perform genetic testing for HD, both in affected and unaffected patients. Management of HD is focused upon control of symptoms, whether motor, cognitive, or psychiatric. There is no clear evidence to date of any disease-modifying agents...
2017: Journal of Clinical Movement Disorders
https://www.readbyqxmd.com/read/28265459/indirect-tolerability-comparison-of-deutetrabenazine-and-tetrabenazine-for-huntington-disease
#15
Daniel O Claassen, Benjamin Carroll, Lisa M De Boer, Eric Wu, Rajeev Ayyagari, Sanjay Gandhi, David Stamler
BACKGROUND: Vesicular monoamine transporter 2 (VMAT2) inhibitors can improve hyperkinetic movements, and are effective treatment options for chorea of Huntington disease (HD). Tetrabenazine was assessed for treating chorea in the TETRA-HD trial, and while efficacious, there are tolerability concerns possibly due to its pharmacokinetic properties. Deutetrabenazine is a novel VMAT2 inhibitor that contains deuterium, which extends active metabolite half-lives and minimizes drug concentration fluctuations...
2017: Journal of Clinical Movement Disorders
https://www.readbyqxmd.com/read/28265458/diagnosing-the-frontal-variant-of-alzheimer-s-disease-a-clinician-s-yellow-brick-road
#16
REVIEW
Russell P Sawyer, Federico Rodriguez-Porcel, Matthew Hagen, Rhonna Shatz, Alberto J Espay
BACKGROUND: Disruption of the frontal lobes and its associated networks are a common consequence of neurodegenerative disorders. Given the wide range of cognitive, behavioral and motor processes in which the frontal lobes are involved, there can be a great variety of manifestations depending on the pathology distribution. The most common are the behavioral variant of frontotemporal dementia (bvFTD) and the frontal variant of Alzheimer's disease (fvAD), which are particularly challenging to disentangle...
2017: Journal of Clinical Movement Disorders
https://www.readbyqxmd.com/read/28101372/lessons-i-have-learned-from-my-patients-everyday-life-with-primary-orthostatic-tremor
#17
Marie Vidailhet, Emmanuel Roze, Lucie Maugest, Cécile Gallea
BACKGROUND: Primary orthostatic tremor is a rare disorder that is still under-diagnosed or misdiagnosed. Motor symptoms are fairly characteristics but the real impact on the patient's every day life and quality of life is under-estimated. The "how my patients taught me" format describes the impact on the patients' every day life with their own words, which is rarely done. CASE PRESENTATION: A 46 year old lady was diagnosed primary orthostatic tremor (POT) based on the cardinal symptoms: feelings of instability, leg tremor and fear of falling in the standing position, improvement with walking and disappearance while sitting, frequency of Tremor in the 13-18Hz range, normal neurological examination...
2017: Journal of Clinical Movement Disorders
https://www.readbyqxmd.com/read/28035288/loss-of-visual-feedback-revealing-motor-impairment-an-early-symptom-of-parkinson-s-disease-in-two-irish-farmers
#18
Diana A Olszewska, Conor Fearon, Tim Lynch
BACKGROUND: In the absence of visual feedback, humans depend upon proprioceptive information for reaching movements and coordination. Use of sensory information in order to assist movement is impaired in patients with early Parkinson's disease (PD). It has been postulated that patients with PD compensate for this kinaesthetic deficit by relying on visual information. CASE PRESENTATION: We report two farmers who first noticed symptoms of PD when working on the farm in situations requiring processing of the proprioceptive/kinaesthetic information in order to execute motor output in the absence of visual cues...
2016: Journal of Clinical Movement Disorders
https://www.readbyqxmd.com/read/28031858/medical-treatment-of-dystonia
#19
REVIEW
Pichet Termsarasab, Thananan Thammongkolchai, Steven J Frucht
Therapeutic strategies in dystonia have evolved considerably in the past few decades. Three major treatment modalities include oral medications, botulinum toxin injections and surgical therapies, particularly deep brain stimulation. Although there has been a tremendous interest in the later two modalities, there are relatively few recent reviews of oral treatment. We review the medical treatment of dystonia, focusing on three major neurotransmitter systems: cholinergic, GABAergic and dopaminergic. We also provide a practical guide to medication selection, therapeutic strategy and unmet needs...
2016: Journal of Clinical Movement Disorders
https://www.readbyqxmd.com/read/27895931/erratum-publisher-s-erratum-spinal-generated-movement-disorders-a-clinical-review
#20
Pichet Termsarasab, Thananan Thammongkolchai, Steven J Frucht
[This corrects the article DOI: 10.1186/s40734-015-0028-1.].
2016: Journal of Clinical Movement Disorders
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