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Journal of Clinical Movement Disorders

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
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
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
Pichet Termsarasab, Thananan Thammongkolchai, Steven J Frucht
[This corrects the article DOI: 10.1186/s40734-015-0028-1.].
2016: Journal of Clinical Movement Disorders
Diana A Olszewska, Conor Fearon, Tim Lynch
Mutations in six genes are known to cause Parkinson's disease (PD) (autosomal dominant: alpha-synuclein, LRRK2, VPS35 and autosomal recessive: Parkin, PINK1 and DJ1) and number of other genes are implicated. In a recent article Deng and colleagues studied a large four generation American family of European descent and linked mutations in a novel gene, transmembrane-protein 230 gene (TMEM230) with lewy body confirmed PD. The authors demonstrated that pathogenic TMEM230 variants in primary mouse neurons affected movement of synaptic vesicles suggesting that TMEM230 may slow vesicular transport...
2016: Journal of Clinical Movement Disorders
A Kuiper, M E van Egmond, M P M Harms, M D Oosterhoff, B van Harten, D A Sival, T J de Koning, M A J Tijssen
BACKGROUND: Compulsive movements, complex tics and stereotypies are frequent, especially among patients with autism or psychomotor retardation. These movements can be difficult to characterize and can mimic other conditions like epileptic seizures or paroxysmal dystonia, particularly when abnormal breathing and cerebral hypoxia are induced. CASE PRESENTATION: We describe an 18-year-old patient with Asperger syndrome who presented with attacks of tonic posturing of the trunk and neck...
2016: Journal of Clinical Movement Disorders
Onanong Jitkritsadakul, Roongroj Bhidayasiri
BACKGROUND: Physicians are usually at the forefront when the issue of driving ability is raised by Parkinson's disease (PD) patients or their family members, even though few have been formally trained in this area. OBJECTIVES AND METHODS: To identify relevant literature on driving assessment tools in patients with PD by performing a systematic review on this subject in order to provide background information for physicians on what types of driving assessment are available, and to delineate the role of physicians in providing fitness to drive recommendations...
2016: Journal of Clinical Movement Disorders
Halil Onder
Here, I discuss the report by Dale et al. and present some relevant comments, hoping that it will allow a better understanding of the patient's situation as well as freezing of gait phenomenon. I will also discuss other disorders for differential diagnosis those should be kept in mind.
2016: Journal of Clinical Movement Disorders
Elan D Louis, Stephanie Cosentino, Edward D Huey
BACKGROUND: Embarrassment can be a considerable problem for patients with essential tremor (ET) and is a major motivator for treatment. Depression is also a common feature of ET; as many as 35 % of patients report moderate to severe depressive symptoms. Our goal was to assess the associations between these motor and psychosocial factors (tremor, depression, embarrassment) in ET, with a particular interest in more fully assessing the possible association between depression and embarrassment...
2016: Journal of Clinical Movement Disorders
Ruth H Walker
A 45-year-old woman reported automatic behaviors and communication whilst she was being treated with pramipexole. These episodes vanished after the medication was tapered and she was started on levodopa/carbidopa. I hypothesize that the episodes were related to disordered awareness due to sleep disruption related to this medication.
2016: Journal of Clinical Movement Disorders
Steven J Frucht
BACKGROUND: Embouchure dystonia is an unusual focal task-specific dystonia affecting the muscles that control the flow of air into the mouthpiece of a brass or woodwind instrument. The complexity of the embouchure and the relative rarity of the condition pose barriers for recognition and management of the disorder. METHODS: Case review and video survey. RESULTS: This paper presents four video compilations that illustrate the rich phenomenology of embouchure dystonia, in order to enhance recognition and diagnosis...
2016: Journal of Clinical Movement Disorders
Leonard L Sokol, Michael J Young, Alberto J Espay, Ronald B Postuma
Most Parkinson's disease (PD) patients present without known family history and without a diagnosed prodromal phase, underscoring the difficulty of employing primary (neuroprevention) and secondary (neuroprotection) preventions. In cases of monogenic forms, however, potential gene-carrying family members of a proband could engage in neuroprevention, such as exercise or diet modifications, to attenuate the risk of, or delay, disease development. However, a historical lack of recognized disease-modifying interventions has limited clinicians' ability to recommend reliable preventive measures in caring for at-risk populations...
2016: Journal of Clinical Movement Disorders
Tuhin Virmani, Sirinan Tazan, Pietro Mazzoni, Blair Ford, Paul E Greene
BACKGROUND: The modulation of levodopa transport across the blood brain barrier by large neutral amino acids is well documented. Protein limitation and protein redistribution diets may improve motor fluctuations in patients with Parkinson's disease but the pharmacokinetics and pharmacodynamics of levodopa and amino acids are highly variable. METHODS: Clinical records of 1037 Parkinson's disease patients were analyzed to determine the proportion of patients with motor fluctuations related to protein interaction with levodopa...
2016: Journal of Clinical Movement Disorders
Ruth H Walker
A patient with right-side-predominant Parkinson's disease presented visual artwork which improved in resemblance to the model which he was copying with increasing doses of levodopa. I propose that increased dopaminergic replacement resulted in improved attention to detail, mediated by circuitry in the left hemisphere.
2016: Journal of Clinical Movement Disorders
Clara Warden, Jaclyn Hwang, Anisa Marshall, Michelle Fenesy, Kathleen L Poston
BACKGROUND: Parkinson's disease patients are at an elevated risk of developing cognitive impairment. Although cognitive impairment is one of the strongest predictors of quality of life, dopaminergic anti-parkinsonian medications are designed to target motor symptoms. However, there is substantial evidence that dopamine also impacts cognition, in particular working memory. It is therefore critical for movement disorders physicians to understand the potential dopaminergic effects on working memory when prescribing these medications...
2016: Journal of Clinical Movement Disorders
Hatice N Eken, Elan D Louis
BACKGROUND: Lack of awareness of involuntary movements is a curious phenomenon in patients with certain movement disorders. An interesting anecdotal observation is that patients with essential tremor (ET) often seem unaware of their own head tremor. In the current study, we asked ET patients whether they were aware of head tremor while it was occurring on examination, thereby allowing us to gauge real-time awareness of their involuntary movement. METHODS: ET cases enrolled in an ongoing clinical research study at the Columbia University Medical Center (2009-2014)...
2016: Journal of Clinical Movement Disorders
Leonard L Sokol, Alberto J Espay
Clinical signs are critical in ascertaining the functional nature of a gait disorder. Four signs of gait impairment have been documented in the course of examining patients with clinically definite functional (psychogenic) movement disorders: "huffing and puffing" during standing and walking, manipulation-resistance dorsiflexion of the first toe, fixed plantar flexion and inversion, and marked discrepancy between ambulation with and without swivel chair assistance. While large studies are needed to ascertain their prevalence, sensitivity, and specificity, the identification of these signs may help elevate the diagnostic certainty of functional gait disorders...
2016: Journal of Clinical Movement Disorders
Marian L Dale, Martina Mancini, Carolin Curtze, Fay B Horak, Brett W Fling
Freezing of gait (FoG) is a debilitating feature of Parkinson's disease and other parkinsonian disorders. This case demonstrates a variant of freezing of gait in a non-parkinsonian patient with a lesion of the anterior corpus callosum. The freezing improved with increased upper extremity sensory input, suggesting that compensatory circuits for use of somatosensory inputs from the arms to postural and locomotor centers were intact.
2016: Journal of Clinical Movement Disorders
Fumihito Yoshii, Yusuke Moriya, Tomohide Ohnuki, Masafuchi Ryo, Wakoh Takahashi
BACKGROUND: Various postural deformities appear during progression of Parkinson's disease (PD), but the underlying pathophysiology of these deformities is not well understood. The angle abnormalities seen in individual patients may not be due to distinct causes, but rather they may have occurred in an interrelated manner to maintain a balanced posture. METHODS: We measured the neck flexion (NF), fore-bent (FB), knee-bent (KB) and lateral-bent (LB) angles in 120 PD patients, and examined their mutual relationships, and correlations with clinical predictors such as sex, age, disease duration, Hoehn and Yahr (H&Y) stage, medication dose (levodopa equivalent dose, LED; total dose of dopamine agonists, DDA)...
2016: Journal of Clinical Movement Disorders
Pichet Termsarasab, Thananan Thammongkolchai, Steven J Frucht
Spinal-generated movement disorders (SGMDs) include spinal segmental myoclonus, propriospinal myoclonus, orthostatic tremor, secondary paroxysmal dyskinesias, stiff person syndrome and its variants, movements in brain death, and painful legs-moving toes syndrome. In this paper, we review the relevant anatomy and physiology of SGMDs, characterize and demonstrate their clinical features, and present a practical approach to the diagnosis and management of these unusual disorders.
2015: Journal of Clinical Movement Disorders
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