Articles

Transcranial magnetic stimulation therapy for focal leg dystonia: a case report

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 integrat...

Authors: Kush Sharma, Alberto Cucca, Andrea Lee, Shashank Agarwal, Steven Joel Frucht and Milton Cesar Biagioni

Correction to: Medical treatment of dystonia

Following publication of the original article [1], the authors reported that the videos referred to in their article were not accessible to readers.

Authors: Pichet Termsarasab, Thananan Thammongkolchai and Steven J. Frucht

Characterization of vitamin D supplementation and clinical outcomes in a large cohort of early Parkinson’s disease

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 h...

Authors: Nijee S. Luthra, Soeun Kim, Yunxi Zhang and Chadwick W. Christine

SCA2 presenting as a focal dystonia

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 sa...

Authors: Nan Cheng, Heather M. Wied, James J. Gaul, Lauren E. Doyle and Stephen G. Reich

Inpatient care for stiff person syndrome in the United States: a nationwide readmission study

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 objective...

Authors: James A. G. Crispo, Dylan P. Thibault, Yannick Fortin and Allison W. Willis

Spectrum of practice in the routine management of cervical dystonia with abobotulinumtoxinA: findings from three prospective open-label observational studies

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 ...

Authors: Vijay P. Misra, Richard M. Trosch, Pascal Maisonobe and Savary Om

Crossing barriers: a multidisciplinary approach to children and adults with young-onset movement disorders

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 pos...

Authors: Martje E. van Egmond, Hendriekje Eggink, Anouk Kuiper, Deborah A. Sival, Corien C. Verschuuren-Bemelmans, Marina A. J. Tijssen and Tom J. de Koning

Atrophy of the putamen at time of clinical motor onset in Huntington’s disease: a 6-year follow-up study

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 con...

Authors: Emma M. Coppen, Jeroen van der Grond and Raymund A. C. Roos

Cognitive fluctuations in Parkinson’s disease dementia: blood pressure lability as an underlying mechanism

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 pat...

Authors: David E. Riley and Alberto J. Espay

Adductor focal laryngeal Dystonia: correlation between clinicians’ ratings and subjects’ perception of Dysphonia

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’ percep...

Authors: Celia Faye Stewart, Catherine F. Sinclair, Irene F. Kling, Beverly E. Diamond and Andrew Blitzer

An unusual presentation of tyrosine hydroxylase deficiency

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...

Authors: Linn E. Katus and Steven J. Frucht

Meta-research metrics matter: letter regarding article “indirect tolerability comparison of Deutetrabenazine and Tetrabenazine for Huntington disease”

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...

Authors: Filipe B. Rodrigues, Gonçalo S. Duarte, João Costa, Joaquim J. Ferreira and Edward J. Wild

Primary progressive apraxia: an unusual ideomotor syndrome

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...

Authors: Yeva M. Fernandez and Steven J. Frucht

Pure akinesia with gait freezing: a clinicopathologic study

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 p...

Authors: Ahmad Elkouzi, Esther N. Bit-Ivan and Rodger J. Elble

Are we missing non-motor seizures in Parkinson’s disease? Two case reports

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 lif...

Authors: Andre Y. Son, Alberto Cucca, Shashank Agarwal, Anli Liu, Alessandro Di Rocco and Milton C. Biagioni

A Computerized Cognitive behavioral therapy Randomized, Controlled, pilot trial for insomnia in Parkinson Disease (ACCORD-PD)

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 inconsiste...

Authors: Shnehal Patel, Oluwadamilola Ojo, Gencer Genc, Srivadee Oravivattanakul, Yang Huo, Tanaporn Rasameesoraj, Lu Wang, James Bena, Michelle Drerup, Nancy Foldvary-Schaefer, Anwar Ahmed and Hubert H. Fernandez

Pathophysiology of writer’s cramp: an exploratory study on task-specificity and non-motor symptoms using an extended fine-motor testing battery

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 symptom...

Authors: Ali Amouzandeh, Michael Grossbach, Joachim Hermsdörfer and Eckart Altenmüller

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

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 appr...

Authors: Paola Ortelli, Roberto Maestri, Marianna Zarucchi, Veronica Cian, Elisa Urso, Francesca Giacomello, Davide Ferrazzoli and Giuseppe Frazzitta

Effects of a sensory-motor orthotic on postural instability rehabilitation in Parkinson’s disease: a pilot study

Proprioceptive deficits have been largely documented in PD patients, thus external sensory signals (peripheral sensory feedback) are often used to compensate the abnormalities of proprioceptive integration.

Authors: Daniele Volpe, Elisa Pelosin, Leila Bakdounes, Stefano Masiero, Giannettore Bertagnoni, Chiara Sorbera and Maria Giulia Giantin

Functional neuroimaging and chorea: a systematic review

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 ...

Authors: Debra J. Ehrlich and Ruth H. Walker

RimabotulinumtoxinB in sialorrhea: systematic review of clinical trials

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.

Authors: Khashayar Dashtipour, Roongroj Bhidayasiri, Jack J. Chen, Bahman Jabbari, Mark Lew and Diego Torres-Russotto

Parkinson disease in Gaucher disease

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 de...

Authors: Federico Rodriguez-Porcel, Alberto J. Espay and Miryam Carecchio

A case of stiff dog syndrome associated with anti-glutamic acid decarboxylase antibodies

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 cl...

Authors: Theresa E. Pancotto and John H. Rossmeisl Jr

Dystonic storm: a practical clinical and video review

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 dyst...

Authors: Pichet Termsarasab and Steven J. Frucht

Economics of botulinum toxin therapy: influence of the abobotulinumtoxinA package size on the costs of botulinum toxin therapy

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 dif...

Authors: Dirk Dressler and Fereshte Adib Saberi

Presentation and care of a family with Huntington disease in a resource-limited community

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 po...

Authors: Jarmal Charles, Lindyann Lessey, Jennifer Rooney, Ingmar Prokop, Katherine Yearwood, Hazel Da Breo, Patrick Rooney, Ruth H. Walker and Andrew K. Sobering

Diagnosing the frontal variant of Alzheimer’s disease: a clinician’s yellow brick road

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...

Authors: Russell P. Sawyer, Federico Rodriguez-Porcel, Matthew Hagen, Rhonna Shatz and Alberto J. Espay

Indirect tolerability comparison of Deutetrabenazine and Tetrabenazine for Huntington disease

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 chore...

Authors: Daniel O. Claassen, Benjamin Carroll, Lisa M. De Boer, Eric Wu, Rajeev Ayyagari, Sanjay Gandhi and David Stamler

Lessons I have learned from my patients: everyday life with primary orthostatic tremor

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...

Authors: Marie Vidailhet, Emmanuel Roze, Lucie Maugest and Cécile Gallea

Medical treatment of dystonia

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 ...

Authors: Pichet Termsarasab, Thananan Thammongkolchai and Steven J. Frucht

Publisher’s Erratum: Spinal-generated movement disorders: a clinical review

Authors: Pichet Termsarasab, Thananan Thammongkolchai and Steven J. Frucht

Novel gene (TMEM230) linked to Parkinson’s disease

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. I...

Authors: Diana A. Olszewska, Conor Fearon and Tim Lynch

Clinical Pearls - how my patients taught me: The fainting lark symptom

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 conditio...

Authors: A. Kuiper, M.E. van Egmond, M.P.M. Harms, M.D. Oosterhoff, B. van Harten, D.A. Sival, T.J. de Koning and M.A.J. Tijssen

The phenomenology and treatment of idiopathic adult-onset truncal dystonia: a retrospective review

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...

Authors: Debra J. Ehrlich and Steven J. Frucht

Physicians’ role in the determination of fitness to drive in patients with Parkinson’s disease: systematic review of the assessment tools and a call for national guidelines

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.

Authors: Onanong Jitkritsadakul and Roongroj Bhidayasiri

Letter regarding article ‘Freezing of gait associated with a corpus callosum lesion’

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 dis...

Authors: Halil Onder

Loss of visual feedback revealing motor impairment – an early symptom of Parkinson’s disease in two Irish farmers

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 ear...

Authors: Diana A. Olszewska, Conor Fearon and Tim Lynch

Depressive symptoms can amplify embarrassment in essential tremor

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 moderat...

Authors: Elan D. Louis, Stephanie Cosentino and Edward D. Huey

Automatic behavior and communication due to pramipexole

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/carbid...

Authors: Ruth H. Walker

Embouchure dystonia: a video guide to diagnosis and evaluation

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...

Authors: Steven J Frucht

Cautionary optimism: caffeine and Parkinson’s disease risk

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 (neuroprote...

Authors: Leonard L. Sokol, Michael J. Young, Alberto J. Espay and Ronald B. Postuma

Motor fluctuations due to interaction between dietary protein and levodopa in Parkinson’s disease

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 patien...

Authors: Tuhin Virmani, Sirinan Tazan, Pietro Mazzoni, Blair Ford and Paul E. Greene

Evolution of visual art with dopaminergic therapy

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 do...

Authors: Ruth H. Walker

The effects of dopamine on digit span in Parkinson’s disease

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 medi...

Authors: Clara Warden, Jaclyn Hwang, Anisa Marshall, Michelle Fenesy and Kathleen L. Poston

Divergent oral cavity motor strategies between healthy elite and dystonic horn players

This paper describes the use of real-time magnetic resonance imaging in visualizing and quantifying oral cavity motor strategies employed by 6 healthy, elite horn players and 5 horn players with embouchure dys...

Authors: Peter W. Iltis, Jens Frahm, Dirk Voit, Arun Joseph, Erwin Schoonderwaldt and Eckart Altenmüller

Agnosia for head tremor in essential tremor: prevalence and clinical correlates

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 unawa...

Authors: Hatice N. Eken and Elan D. Louis

Clinical signs in functional (psychogenic) gait disorders: a brief survey

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 ...

Authors: Leonard L. Sokol and Alberto J. Espay

Freezing of gait associated with a corpus callosum lesion

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...

Authors: Marian L. Dale, Martina Mancini, Carolin Curtze, Fay B. Horak and Brett W. Fling

Postural deformities in Parkinson’s disease –Mutual relationships among neck flexion, fore-bent, knee-bent and lateral-bent angles and correlations with clinical predictors

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 pa...

Authors: Fumihito Yoshii, Yusuke Moriya, Tomohide Ohnuki, Masafuchi Ryo and Wakoh Takahashi

Spinal-generated movement disorders: a clinical review

Spinal-generated movement disorders (SGMDs) include spinal segmental myoclonus, propriospinal myoclonus, orthostatic tremor, secondary paroxysmal dyskinesias, stiff person syndrome and its variants, movements ...

Authors: Pichet Termsarasab, Thananan Thammongkolchai and Steven J. Frucht