Joseph Jankovic

Joseph Jankovic
Baylor College of Medicine | BCM · Department of Neurology

MD

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1,105
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Publications

Publications (1,105)
Article
BACKGROUND AND OBJECTIVES: Corticobasal syndrome (CBS) is a complex of symptoms and signs comprising limb rigidity, bradykinesia, dystonia, myoclonus, apraxia, cortical sensory loss, and a variety of cognitive and language impairments. CBS is commonly seen in tauopathies. Striking asymmetry in clinical and imaging findings in CBS raises questions a...
Conference Paper
OBJECTIVE: To determine the prevalence of apraxia of eyelid opening (AOELO) in patients with movement disorders evaluated at the Parkinson’s Disease Center and Movement Disorders Clinic, Baylor College of Medicine, Houston, TX, and to explore its demographic and clinical correlates. BACKGROUND: AOELO is the inability to voluntarily open the eyes i...
Article
INTRODUCTION Tourette syndrome (TS) is a childhood-onset neurobehavioral disorder characterized by tics. Pharmacotherapy is advised for patients whose symptoms affect their quality of life. AREAS COVERED The authors review the tic phenomenology and TS diagnostic criteria. The bulk of this article focuses on pharmacotherapeutic options for treating...
Article
The term “extrapyramidal system/symptoms/signs” and the acronym “EPS” have been abundantly used in neurology and psychiatry literature for more than a century. However, EPS has been increasingly criticized, especially by movement disorder neurologists, for its lack of clinical, anatomical, and physiologic definition. Contrary to traditional assumpt...
Article
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BACKGROUND: Peripherally-induced movement disorders (PIMD) should be considered when involuntary or abnormal movements emerge shortly after an injury to a body part. A close topographic and temporal association between peripheral injury and onset of the movement disorders is crucial to diagnosing PIMD. PIMD is under-recognized and often misdiagnose...
Article
Introduction: Although there has been substantial progress in research and innovations in symptomatic treatments, similar success has not been achieved in disease-modifying therapy (DMT) for Parkinson’s disease (PD). Considering the enormous motor, psychosocial and financial burden associated with PD, safe and effective DMT is of paramount importan...
Chapter
Tourette syndrome (TS) is a childhood-onset complex neurobehavioral disorder. The defining feature of TS is the presence of tics, which are described as sudden-onset, recurrent, brief-lasting, irregular, involuntary movements (motor tics) or sounds (phonic tics). Most patients with TS also have a variety of comorbid behavioral disorders, particular...
Article
We have recently mapped the in vitro proliferative responses of T cells from botulinum neurotoxin type A (BoNT/A)-treated cervical dystonia (CD) patients with overlapping peptides encompassing BoNT/A heavy chain (residues 449–1296). In the present study, we determined the recognition profiles, by peripheral blood lymphocytes (PBL) from the same set...
Article
Transient ptosis is a known complication of botulinum toxin (BoNT) injection due to inadvertent migration of toxin into the levator palpebrae superioris muscle. Currently there is no treatment available for BoNT induced ptosis. Apraclonidine hydrochloride is a topical ophthalmic solution with selective alpha-2 and weak alpha-1 receptor agonist acti...
Chapter
Stereotypies are defined as coordinated, patterned, repetitive, rhythmic, and seemingly purposeless movements that can occur involuntarily or in response to or induced by inner sensory stimulus or unwanted feeling (involuntary). Stereotypies are classically described in children with autism or autism spectrum disorders but stereotypies are also see...
Article
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Hemifacial spasm (HFS) is one of the most common presentations in patients with cranial psychogenic (functional) movement disorders (PMD). Medical records and videos of patients with PMD and HFS were reviewed to identify those with psychogenic HFS and to compare the phenomenology of psychogenic HFS with organic HFS. We identified 18 (9.8%) patients...
Article
IMPORTANCE: Although levodopa remains the most effective oral pharmacotherapy for Parkinson disease (PD), its use is often limited by wearing off effect and dyskinesias. Management of such complications continues to be a significant challenge. OBJECTIVE: To investigate the efficacy and safety of safinamide (an oral aminoamide derivative with dopami...
Article
Objective: To describe improvement in blepharospasm with apraclonidine. Background: Blepharospasm is a focal dystonia involving chiefly the orbicularis oculi and periocular muscles resulting in involuntary sustained eyelid closure. Botulinum toxin injection is the mainstay of treatment with meaningful improvement in over 85% of patients, but the ef...
Article
Sensory tricks, defined as ‘episodic and specific manoeuvres that temporarily improve dystonia in a manner that is not easily physiologically perceived as necessary to counteract the involuntary movement’, are well-recognised features of organic dystonia.1 The term ‘alleviating manoeuvres’ (AlM) has been proposed as a more appropriate term because...
Article
Full-text available
Importance: Although levodopa remains the most effective oral pharmacotherapy for Parkinson disease (PD), its use is often limited by wearing off effect and dyskinesias. Management of such complications continues to be a significant challenge. Objective: To investigate the efficacy and safety of safinamide (an oral aminoamide derivative with dop...
Article
Full-text available
Objective: To test the hypothesis that chronic treatment of early-stage Huntington disease (HD) with high-dose coenzyme Q10 (CoQ) will slow the progressive functional decline of HD. Methods: We performed a multicenter randomized, double-blind, placebo-controlled trial. Patients with early-stage HD (n = 609) were enrolled at 48 sites in the Unite...
Article
Full-text available
Background Deutetrabenazine, an inhibitor of vesicular monoamine transporter type 2 (VMAT2) depletes presynaptic dopamine and is useful in the treatment of hyperkinetic movement disorders. This study explored the safety, tolerability, and preliminary efficacy of deutetrabenazine in adolescents with moderate-to-severe tics associated with Tourette s...
Article
Objective To describe improvement in blepharospasm with apraclonidine. Background Blepharospasm is a focal dystonia involving chiefly the orbicularis oculi and periocular muscles resulting in involuntary sustained eyelid closure. Botulinum toxin injection is the mainstay of treatment with meaningful improvement in over 85% of patients, but the effe...
Article
Full-text available
View largeDownload slide Essential tremor has a high heritability, but its molecular genetic determinants remain unknown. Müller et al. conduct a genome-wide association study in more than 2800 patients with essential tremor and more than 6800 controls of European descent, and identify three new loci associated with the disease. View largeDownloa...
Article
Full-text available
Objective The aim of this study was to evaluate the neurobehavioral safety of constant‐current subthalamic deep brain stimulation and to compare the neuropsychological effects of stimulation versus electrode placement alone. Methods A total of 136 patients with Parkinson's disease underwent bilateral subthalamic device implantation in this randomi...
Article
We have recently reported the submolecular T-cell recognition profile of the C-terminal half (HC, residues 855–1296) of the heavy (H) chain of botulinum neurotoxin type A (BoNT/A) with peripheral blood lymphocytes (PBL) from 25 BoNT-treated cervical dystonia (CD) patients. In the current study, we describe the mapping of the T-cell responses of the...
Article
Importance: Deutetrabenazine is a novel molecule containing deuterium, which attenuates CYP2D6 metabolism and increases active metabolite half-lives and may therefore lead to stable systemic exposure while preserving key pharmacological activity. Objective: To evaluate efficacy and safety of deutetrabenazine treatment to control chorea associate...
Conference Paper
Full-text available
Objective: To describe the improvement in ptosis with apraclonidine in patients with botulinum toxin (BoNT) induced ptosis. Background: Ptosis is a manifestation of a variety of neurological and medical conditions. Transient ptosis is also a known complication of BoNT injection due to inadvertent migration of toxin into the levator palprebrae musc...
Conference Paper
Full-text available
Objective: To describe improvement in blepharospasm with apraclonidine. Background: Blepharospasm is a focal dystonia involving chiefly the orbicularis oculi muscle resulting in involuntary sustained eyelid closure. Often preceded by an increase in blink rate and photosensitivity, blepharospasm may lead to social embarrassment, functional blindness...
Article
Objective: To update the 2008 American Academy of Neurology (AAN) guidelines regarding botulinum neurotoxin for blepharospasm, cervical dystonia (CD), headache, and adult spasticity. Methods: We searched the literature for relevant articles and classified them using 2004 AAN criteria. Results and recommendations: Blepharospasm: Onabotulinumtox...
Article
Full-text available
Objective: To characterize the clinical and genetic features of cervical dystonia (CD). Methods: Participants enrolled in the Dystonia Coalition biorepository (NCT01373424) with initial manifestation as CD were included in this study (n = 1,000). Data intake included demographics, family history, and the Global Dystonia Rating Scale. Participant...
Article
Full-text available
Movement disorders such as Parkinson's disease (PD) and dystonia are associated with alterations of basal ganglia motor circuits and abnormal neuronal activity in the output nucleus, the globus pallidus internus (GPi). This study aims to compare the electrophysiological hallmarks for PD and dystonia in the linear and non-linear time stamp domains i...
Article
Introduction: The aim of this study was to test the clinimetric properties of the Comprehensive Cervical Dystonia Rating Scale. This is a modular scale with modifications of the Toronto Western Spasmodic Torticollis Rating Scale (composed of three subscales assessing motor severity, disability, and pain) now referred to as the revised Toronto West...
Article
Frontotemporal dementia (FTD) refers to a group of clinically and genetically heterogeneous neurodegenerative disorders that are a common cause of adult-onset behavioural and cognitive impairment. FTD often presents in combination with various hyperkinetic or hypokinetic movement disorders, and evidence suggests that various genetic mutations under...
Article
Full-text available
Tourette syndrome (TS) is a neurologic and behavioral disorder consisting of motor and phonic tics with onset in childhood or adolescence. The severity of tics can range from barely perceptible to severely impairing due to social embarrassment, discomfort, self-injury, and interference with daily functioning and school or work performance. In addit...
Article
In this study, the authors retrospectively identified 11 patients with psychogenic ophthalmologic movement disorders (POMDs) (6%) among 182 patients with psychogenic movement disorders (PMDs), using medical charts and video reviews. The phenomenology included oculogyric crises (N=7), opsoclonus (N=5), and ocular flutter (N=1). No statistically sign...
Article
We determined the T-cell proliferative responses of the peripheral blood lymphocytes (PBL) from 25 botulinum neurotoxin (BoNT)-treated patients to 31 overlapping synthetic peptides encompassing the C-terminal half (residues 855-1296) of BoNT/A heavy chain. Responses of PBL to HC peptides varied among patients. Samples from 14 patients treated solel...
Article
Full-text available
Background Cervical dystonia is thought to result in high disease burden, but limited information exists on its impact on employment and work productivity. We utilized data from the Cervical Dystonia Patient Registry for the Observation of OnabotulinumtoxinA Efficacy (ClinicalTrials.gov identifier: NCT00836017) to assess the impact of cervical dyst...
Article
Full-text available
Importance Identifying measures that are associated with the cytosine-adenine-guanine (CAG) expansion in individuals before diagnosis of Huntington disease (HD) has implications for designing clinical trials.Objective To identify the earliest features associated with the motor diagnosis of HD in the Prospective Huntington at Risk Observational St...
Article
This clinical-neuropathologic study, based on brains collected by the Arizona Study of Aging and Neurodegenerative Disorders, quantified the number and volume of nigral pigmented neurons in the brains of patients with autopsy confirmed Parkinson's disease (PD), incidental Lewy Body disease (ILBD) and controls (total 18 subjects). There was signific...
Article
Full-text available
Background Multiple system atrophy is a rare, fatal neurodegenerative disorder with symptoms of autonomic failure plus parkinsonism, cerebellar ataxia, or both. We report results of the fi rst prospective natural history study of multiple system atrophy in the USA, and the eff ects of phenotype and autonomic failure on prognosis.
Article
Nausea and vomiting are a frequent accompaniment of migraine and anti-nausea medications are frequently used in its management. The majority of anti-nausea medications that are used in migraine are dopamine receptor blocking agents and therefore have the potential to cause drug-induced movement disorders. This article explores the risk of such drug...
Data
Video 2: This is a 22-year-old woman, with psychogenic stuttering, hand fidgeting and brief dystonic postures
Data
Video 1: This is a 50-year-old man with recent history of severe generalized tremor presents severe psychogenic stuttering while reading the “Rainbow passage”
Article
Essential tremor (ET) and Parkinson's disease (PD) are the two most common tremor disorders encountered in a movement disorders clinic. Although distinct clinical-pathological entities, both disorders may share overlapping features in addition to rest and postural tremor, such as bradykinesia, rigidity, gait and balance impairment and some non-moto...
Article
This study reports the baseline characteristics of diffusion tensor imaging data in Parkinson's disease (PD) patients and healthy control subjects from the Parkinson's Progression Markers Initiative. The main goals were to replicate previous findings of abnormal diffusion imaging values from the substantia nigra. in a large multicenter cohort and d...
Article
Full-text available
The natural history of NMDA receptor (NMDAR) antibody encephalitis in adults and children is altered by treatment with immunosuppressive therapy or tumor removal.¹ In adult cohorts, early initiation of immunotherapy appears to be beneficial.1,2 In the largest series to date, Titulaer et al.¹ demonstrated that earlier treatment was associated with a...
Article
We sought to evaluate the safety and efficacy of tetrabenazine (TBZ) in patients with moderate to severe Tourette syndrome (TS). TBZ, a monoamine-depleting drug, has been previously reported to be effective in the treatment of hyperkinetic movement disorders such as Huntington disease and tardive dyskinesia. TBZ has the distinct advantage over neur...
Article
Full-text available
Psychogenic speech and voice disorders (PSVDs) may occur in isolation but more typically are encountered in the setting of other psychogenic disorders. We aimed to characterize the phenomenology, frequency, and correlates of PSVDs in a cohort of patients with psychogenic movement disorders (PMDs). We studied 182 consecutive patients with PMDs, 30 o...
Article
Mild parkinsonian features can be observed in patients with essential tremor (ET). Although dopamine transporter (DAT) imaging is usually normal in ET, some studies found mild dopaminergic deficit in ET patients compared to healthy controls (HC). We analyzed clinical and DAT imaging data in ET patients with and without parkinsonian features. Thirty...
Article
Full-text available
Dopa-responsive dystonia (DRD) encompasses a group of clinically and genetically heterogeneous disorders that typically manifest as limb-onset, diurnally fluctuating dystonia and exhibit a robust and sustained response to levodopa treatment. Autosomal dominant GTP cyclohydrolase 1 deficiency, also known as Segawa disease, is the most common and bes...
Article
A 12-month double-blind sham-surgery-controlled trial assessing adeno-associated virus type 2 (AAV2)-neurturin injected into the putamen bilaterally failed to meet its primary endpoint, but showed positive results for the primary endpoint in the subgroup of subjects followed for 18 months and for several secondary endpoints. Analysis of postmortem...
Article
Full-text available
Anxiety and depression often remain unrecognized or inadequately treated in patients with Parkinson disease (PD). Cognitive-behavioral therapy (CBT) is effective, but limited evidence supports its use for anxiety and depression in patients with PD. Sixteen patients with PD having significant anxiety and/or depressive symptoms were assigned to CBT o...
Article
Full-text available
Multiple system atrophy is a rare, fatal neurodegenerative disorder with symptoms of autonomic failure plus parkinsonism, cerebellar ataxia, or both. We report results of the first prospective natural history study of multiple system atrophy in the USA, and the effects of phenotype and autonomic failure on prognosis. We recruited participants with...
Article
The protein deacetylase SIRT1 has been recognized to exert its protective effect by directly deacetylasing histone and many other transcriptional factors including p53. However, the effect of SIRT1 on p53 expression at the transcriptional level still remains to be elucidated. In the current study, we found that rotenone treatment decreased cell via...
Conference Paper
Full-text available
Objective: To report the outcome of a patient with medication refractory short-lasting unilateral neuralgiform headache attacks with conjuctival injection and tearing (SUNCT) to botulinum toxin. Background: SUNCT is a rare form of headache characterized by very frequent, unilateral attacks of pain in the ocular and periocular region accompanied by...
Article
Full-text available
Background: IncobotulinumtoxinA (Xeomin(®)) is a purified botulinum neurotoxin type A formulation, free from complexing proteins, with proven efficacy and good tolerability for the treatment of neurological conditions such as blepharospasm, cervical dystonia (CD), and post-stroke spasticity of the upper limb. This article provides a comprehensive...
Article
Background: The aim of this study was to describe a case of hereditary spastic paraplegia (HSP) resulting from SPG11 mutations, presenting with a complex phenotype of dopa-responsive dystonia (DRD), diagnosed using whole exome sequencing (WES). HSP resulting from SPG11 typically presents with spasticity, cognitive impairment, and radiological evid...
Article
Variants in the EIF4G1 gene have been recently identified to be responsible for autosomal dominant PD (PARK18), but its role in the PD-related neurodegeneration is unclear. Several EIF4G1 mutation/variants were found to be associated with PD, and functional studies have suggested that these variants may impair the ability of cells to rapidly and dy...
Article
Gait disorders are frequently accompanied by loss of balance and falls, and are a common cause of disability, particularly among the elderly. In many cases the cause is multifactorial, involving both neurologic and nonneurologic systems. Physical therapy and training, coupled with pharmacologic and surgical therapy, can usually provide some improve...
Article
Myorhythmia is defined as repetitive, rhythmic, slow (1-4 Hz) movement affecting chiefly cranial and limb muscles. When occurring in the limbs it may be oscillatory and jerky, whereas oculo-masticatory myorhythmia, typically associated with Whipple's disease, is a slow, repetitive, often asymmetrical, facial and ocular movement. Thus, myorhythmia o...
Article
There is growing interest in the therapeutic potential of marijuana (cannabis) and cannabinoid-based chemicals within the medical community and, particularly, for neurological conditions. This interest is driven both by changes in the legal status of cannabis in many areas and increasing research into the roles of endocannabinoids within the centra...
Article
Background Spinocerebellar ataxias (SCA) are a group of rare hereditary neurodegenerative disorders. Rare cases of two SCA mutations in the same individual have been reported in the literature, however, family descriptions are lacking.AimsTo characterize a family with combined SCA2 and SCA10 mutations.Materials & Methods Analysis of the clinical fe...
Article
Full-text available
The Cervical Dystonia Patient Registry for Observation of OnabotulinumtoxinA Efficacy (CD PROBE; NCT00836017) is a prospective, observational, multicenter, real-world registry designed to assess the safety, effectiveness, and treatment utilization following multiple treatments of onabotulinumtoxinA. Subjects were naïve to botulinum toxin, new to pr...
Article
Parkinson's disease (PD) is the second most common age-related neurodegenerative disease, but its pathogenesis is not fully understood. The selective neuronal cell death in PD has been considered to result from a complex interaction between genetic and environmental factors, but the nature of the relationship between the two chief modifiers remains...
Article
Full-text available
Stiff-person syndrome (SPS) is characterised by progressive rigidity and muscle spasms affecting the axial and limb muscles. Since its initial description in 1956, marked progress has been made in the clinical characterisation, understanding of pathogenesis and therapy of this disorder. SPS can be classified according to the clinical presentation i...
Article
Psychogenic movement disorders (PMDs) can present with varied phenomenology that may resemble organic movement disorders. The diagnosis is based on clinical evaluation with a supporting history and classic features on neurologic examination. Ancillary testing, such as imaging and neurophysiologic studies, can provide supplementary information but i...
Article
Paroxysmal dyskinesias represent a group of episodic abnormal involuntary movements manifested by recurrent attacks of dystonia, chorea, athetosis, or a combination of these disorders. Paroxysmal kinesigenic dyskinesia, paroxysmal nonkinesigenic dyskinesia, paroxysmal exertion-induced dyskinesia, and paroxysmal hypnogenic dyskinesia are distinguish...
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To provide a systematic description of component movements of upper facial chorea in Huntington disease, consecutive videos of 25 active patients with confirmed diagnosis were scored on eye opening, eye closing, and procerus/corrugator contractions. Of the 25 patients evaluated, 76% exhibited intermittently widened palpebral fissures associated wit...
Article
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Catatonia is a complex neuropsychiatric syndrome characterised by a broad range of motor, speech and behavioural abnormalities. 'Waxy flexibility', 'posturing' and 'catalepsy' are among the well-recognised motor abnormalities seen in catatonia. However, there are many other motor abnormalities associated with catatonia. Recognition of the full spec...
Article
Importance Genetic diseases often cluster in different ethnic groups and may present with recognizable unique clinical manifestations.Objective To summarize current knowledge about movement disorders overrepresented among patients of Jewish ancestry.Evidence Review We searched PubMed and the OMIM and Israeli National Genetic Databases for articl...
Article
Full-text available
Tourette syndrome (TS) is a heritable neuropsychiatric disorder commonly complicated by obsessions and compulsions, but defined by frequent unwanted movements (motor tics) and vocalizations (phonic tics) that develop in childhood or adolescence. In recent years, research on TS has progressed rapidly on several fronts. Inspired by the Fifth Internat...
Article
Background The greatest contribution to inequalities in health both within and between countries is attributable to the socioeconomic determinants of health. The lower the socioeconomic status, the higher the probability of reporting a poor self-perceived health and the higher the prevalence of health problems and chronic conditions. The aim of t...

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