Journal of Clinical Movement Disorders

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...

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...

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...

BACKGROUND: Focal dystonia is the most common type of adult-onset dystonia; however, it infrequently affects truncal musculature. Although commonly attributed to secondary etiologies such as a neurodegenerative illness or tardive syndromes, the entity of idiopathic adult-onset truncal dystonia has only been previously described in a few case reports and small case series. Here we characterize seven cases of adult-onset primary truncal dystonia and present them within the scope of the existing literature...

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...

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...

[This corrects the article DOI: 10.1186/s40734-015-0028-1.].

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...

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...

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...

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.

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...

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.

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...

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...

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...

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.

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...

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)...

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...