Outcomes of Focused Ultrasound Thalamotomy in Tremor Syndromes.

BACKGROUND: The current literature comparing outcomes after a unilateral magnetic resonance image-guided focused ultrasound (MRgFUS) thalamotomy between tremor syndromes is limited and remains a possible preoperative factor that could help predict the long-term outcomes. OBJECTIVE: The aim was to report on the outcomes between different tremor syndromes after a unilateral MRgFUS thalamotomy. METHODS: A total of 66 patients underwent a unilateral MRgFUS thalamotomy for tremor between November 2018 and May 2020 at St Vincent's Hospital Sydney. Each patient's tremor syndrome was classified prior to treatment. Clinical assessments, including the hand tremor score (HTS) and Quality of Life in Essential Tremor Questionnaire (QUEST), were performed at baseline and predefined intervals to 36 months. RESULTS: A total of 63 patients, comprising 30 essential tremor (ET), 24 dystonic tremor (DT), and 9 Parkinson's disease tremor (PDT) patients, returned for at least one follow-up. In the ET patients, at 24 months there was a 61% improvement in HTS and 50% improvement in QUEST compared to baseline. This is in comparison to PDT patients, where an initial benefit in HTS and QUEST was observed, which waned at each follow-up, remaining significant only up until 12 months. In the DT patients, similar results were observed to the ET patients: at 24 months there was a 61% improvement in HTS and 43% improvement in QUEST compared to baseline. CONCLUSION: These results support the use of unilateral MRgFUS thalamotomy for the treatment of DT, which appears to have a similar expected outcome to patients diagnosed with ET. Patients with PDT should be warned that there is a risk of treatment failure. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Essential tremor plus rest tremor: current concepts and controversies.

Since the initial description of Essential Tremor (ET), the entity of ET with rest tremor has proven to be a controversial concept. Some authors argued it could be a late manifestation of ET, others suggested it could be a variant of ET, yet others suggested it could represent a transitional state between ET and Parkinson's disease. The novel tremor classification has proposed the construct of ET-plus to differentiate patients with rest tremor from pure ET. However, there is no clarity of what ET-plus rest tremor represents. With the aim of shedding light on this controversial entity, we have, therefore, systematically reviewed all clinical, electrophysiological, imaging and anatomopathological studies indexed in the Medline database published both before and after the new tremor classification and involving patients with ET-plus rest tremor. Forty-four studies involving 4028 patients were included in this review and analyzed in detail by means of descriptive statistics. The results of the current review suggest that ET-plus rest tremor is a heterogenous group of conditions: thus, rest tremor might represent a late feature of ET, might reflect a different disorder with higher age at onset and lower dependance on genetic susceptibility than ET, might suggest the development of Parkinson's disease or might indicate a misdiagnosis of ET. The reviewed lines of evidence refuse recent claims arguing against the construct of ET-plus, which should be viewed as a syndrome with different possible underpinnings, and highlights methodological issues to be solved in future research.

Comparative connectivity correlates of dystonic and essential tremor deep brain stimulation.

The pathophysiology of dystonic tremor and essential tremor remains partially understood. In patients with medication-refractory dystonic tremor or essential tremor, deep brain stimulation (DBS) targeting the thalamus or posterior subthalamic area has evolved into a promising treatment option. However, the optimal DBS targets for these disorders remains unknown. This retrospective study explored the optimal targets for DBS in essential tremor and dystonic tremor using a combination of volumes of tissue activated estimation and functional and structural connectivity analyses. We included 20 patients with dystonic tremor who underwent unilateral thalamic DBS, along with a matched cohort of 20 patients with essential tremor DBS. Tremor severity was assessed preoperatively and approximately 6 months after DBS implantation using the Fahn-Tolosa-Marin Tremor Rating Scale. The tremor-suppressing effects of DBS were estimated using the percentage improvement in the unilateral tremor-rating scale score contralateral to the side of implantation. The optimal stimulation region, based on the cluster centre of gravity for peak contralateral motor score improvement, for essential tremor was located in the ventral intermediate nucleus region and for dystonic tremor in the ventralis oralis posterior nucleus region along the ventral intermediate nucleus/ventralis oralis posterior nucleus border (4 mm anterior and 3 mm superior to that for essential tremor). Both disorders showed similar functional connectivity patterns: a positive correlation between tremor improvement and involvement of the primary sensorimotor, secondary motor and associative prefrontal regions. Tremor improvement, however, was tightly correlated with the primary sensorimotor regions in essential tremor, whereas in dystonic tremor, the correlation was tighter with the premotor and prefrontal regions. The dentato-rubro-thalamic tract, comprising the decussating and non-decussating fibres, significantly correlated with tremor improvement in both dystonic and essential tremor. In contrast, the pallidothalamic tracts, which primarily project to the ventralis oralis posterior nucleus region, significantly correlated with tremor improvement only in dystonic tremor. Our findings support the hypothesis that the pathophysiology underpinning dystonic tremor involves both the cerebello-thalamo-cortical network and the basal ganglia-thalamo-cortical network. Further our data suggest that the pathophysiology of essential tremor is primarily attributable to the abnormalities within the cerebello-thalamo-cortical network. We conclude that the ventral intermediate nucleus/ventralis oralis posterior nucleus border and ventral intermediate nucleus region may be a reasonable DBS target for patients with medication-refractory dystonic tremor and essential tremor, respectively. Uncovering the pathophysiology of these disorders may in the future aid in further improving DBS outcomes.

The Italian tremor Network (TITAN): rationale, design and preliminary findings.

INTRODUCTION: The recently released classification has revised the nosology of tremor, defining essential tremor (ET) as a syndrome and fueling an enlightened debate about some newly conceptualized entities such as ET-plus. As a result, precise information of demographics, clinical features, and about the natural history of these conditions are lacking. METHODS: The ITAlian tremor Network (TITAN) is a multicenter data collection platform, the aim of which is to prospectively assess, according to a standardized protocol, the phenomenology and natural history of tremor syndromes. RESULTS: In the first year of activity, 679 patients have been recruited. The frequency of tremor syndromes varied from 32% of ET and 41% of ET-plus to less than 3% of rare forms, including focal tremors (2.30%), task-specific tremors (1.38%), isolated rest tremor (0.61%), and orthostatic tremor (0.61%). Patients with ET-plus were older and had a higher age at onset than ET, but a shorter disease duration, which might suggest that ET-plus is not a disease stage of ET. Familial aggregation of tremor and movement disorders was present in up to 60% of ET cases and in about 40% of patients with tremor combined with dystonia. The body site of tremor onset was different between tremor syndromes, with head tremor being most commonly, but not uniquely, associated with dystonia. CONCLUSIONS: The TITAN study is anticipated to provide clinically relevant prospective information about the clinical correlates of different tremor syndromes and their specific outcomes and might serve as a basis for future etiological, pathophysiological, and therapeutic research.

The Pathophysiology of Dystonic Tremors and Comparison With Essential Tremor.

There are two types of dystonic tremor syndromes (DTS), dystonic tremor (DT) and tremor associated with dystonia (TAWD), and neither is understood. DTS likely share some mechanisms with nontremulous dystonia, and there may also be overlaps with essential tremor (ET). We studied 21 ET (8 females, 13 males) and 22 DTS human patients (10 females, 12 males), including 13 human patients with DT (writer's cramp with writing tremor) and 9 human patients with tremor associated with dystonia (TAWD; cervical dystonia with hand tremor). Tremors were analyzed using accelerometry and surface EMG of the antagonist pairs of arm muscles during posture, simple kinetic movement, and writing. Cerebellar inhibition was performed to assess cerebello-thalamo-cortical involvement. DT exhibited higher variability of peak frequency and greater instability of tremor burst intervals over time (higher tremor stability index) than ET or TAWD regardless of tasks. Intermuscular coherence magnitude between the antagonist pairs increased during the writing task in DT, but not ET or TAWD. ET and TAWD exhibited different phase relationships of the temporal fluctuations of voluntary movement and tremor in the kinetic condition. A linear discriminant classifier based on these tremor parameters was able to distinguish the three groups with a classification accuracy of 95.1%. Cerebellar inhibition was significantly reduced in DT, but not in TAWD, compared with ET and healthy controls. Our study shows that the two DTS are distinct entities with DT closer to nontremorous dystonia and TAWD closer to ET.SIGNIFICANCE STATEMENT This study provides novel findings about characteristics and pathophysiology of the two different types of dystonic tremor syndromes compared with essential tremor. Patients with DTS are classified into DT who have dystonia and tremor in the same area, and tremor associated with dystonia (TAWD) who have dystonia and tremor elsewhere. Our results showed that DT exhibits increased tremor variability, instability, and intermuscular coherence, and decreased cerebello-thalamo-cortical inhibition compared with TAWD. Our study shows that DT and TAWD are distinct phenotypes, and that the physiological characteristics of DT are more similar to nontremorous dystonia, and TAWD is closer to ET.

The Signature of Primary Writing Tremor Is Dystonic.

BACKGROUND: It has been debated for decades whether primary writing tremor is a form of dystonic tremor, a variant of essential tremor, or a separate entity. We wished to test the hypothesis that primary writing tremor and dystonia share a common pathophysiology. OBJECTIVES: The objective of the present study was to investigate the pathophysiological hallmarks of dystonia in patients affected by primary writing tremor. METHODS: Ten patients with idiopathic dystonic tremor syndrome, 7 with primary writing tremor, 10 with essential tremor, and 10 healthy subjects were recruited. They underwent eyeblink classic conditioning, blink recovery cycle, and transcranial magnetic stimulation assessment, including motor-evoked potentials and short- and long-interval intracortical inhibition at baseline. Transcranial magnetic stimulation measures were also recorded after paired-associative plasticity protocol. RESULTS: Primary writing tremor and dystonic tremor syndrome had a similar pattern of electrophysiological abnormalities, consisting of reduced eyeblink classic conditioning learning, reduced blink recovery cycle inhibition, and a lack of effect of paired-associative plasticity on long-interval intracortical inhibition. The latter 2 differ from those obtained in essential tremor and healthy subjects. Although not significant, slightly reduced short-interval intracortical inhibition and a larger effect of paired-associative plasticity in primary writing tremor and dystonic tremor syndrome, compared with essential tremor and healthy subjects, was observed. CONCLUSIONS: Our initial hypothesis of a common pathophysiology between dystonia and primary writing tremor has been confirmed. Primary writing tremor might be considered a form of dystonic tremor. © 2021 International Parkinson and Movement Disorder Society.

Long-Term Successful Outcome of Dystonic Head Tremor after Bilateral Deep Brain Stimulation of the Ventral Intermediate and Ventro-Oral Internus Nuclei: A Case Report and Literature Review of Dystonic Head Tremor.

Head tremor in patients with dystonia is referred to as dystonic tremor. During surgical treatment, numerous targets may be selected, including the internal segment of the globus pallidus and the ventral intermediate (Vim) nucleus; however, there is no consensus concerning the most effective treatment target. We report herein a case of dystonic head tremor in which improvement persisted for 5 years after deep brain stimulation (DBS) of the bilateral thalamic Vim and ventro-oral internus (Voi) nuclei. The patient, a 67-year-old woman, has a horizontal head tremor associated with cervical dystonia that had been resistant to drug treatment over 3 years. Immediately following surgery, dystonia and tremor symptoms had completely improved. Voice volume declined and dysarthria occurred but improved upon adjusting the stimulation conditions. Over 5 years, both head tremor and cervical dystonia have been completely controlled, and no other obvious complications have been observed. As the Voi nucleus receives pallidothalamic projections involved in dystonia and the Vim nucleus receives cerebellothalamic projections involved in tremors, stimulating these 2 nuclei with the same electrode appears reasonable in the treatment of dystonic tremor. This case suggests that Vim-Voi DBS may be effective for treating dystonic head tremor.

Temporal discrimination is altered in patients with isolated asymmetric and jerky upper limb tremor.

BACKGROUND: Unilateral or very asymmetric upper limb tremors with a jerky appearance are poorly investigated. Their clinical classification is an unsolved problem because their classification as essential tremor versus dystonic tremor is uncertain. To avoid misclassification as essential tremor or premature classification as dystonic tremor, the term indeterminate tremor was suggested. OBJECTIVES: The aim of this study was to characterize this tremor subgroup electrophysiologically and evaluate whether diagnostically meaningful electrophysiological differences exist compared to patients with essential tremor and dystonic tremor. METHODS: We enrolled 29 healthy subjects and 64 patients with tremor: 26 with dystonic tremor, 23 with essential tremor, and 15 patients with upper limb tremor resembling essential tremor but was unusually asymmetric and jerky (indeterminate tremor). We investigated the somatosensory temporal discrimination threshold, the short-interval intracortical inhibition, and the cortical plasticity by paired associative stimulation. RESULTS: Somatosensory temporal discrimination threshold was significantly increased in patients with dystonic tremor and indeterminate tremor, but it was normal in the essential tremor patients and healthy controls. Significant differences in short-interval intracortical inhibition and paired associative stimulation were not found among the three patient groups and controls. CONCLUSION: These results indicate that indeterminate tremor, as defined in this study, shares electrophysiological similarities with dystonic tremor rather than essential tremor. Therefore, we propose that indeterminate tremor should be considered as a separate clinical entity from essential tremor and that it might be dystonic in nature. Somatosensory temporal discrimination appears to be a useful tool in tremor classification. © 2019 International Parkinson and Movement Disorder Society.

Pallidal Activity in Cervical Dystonia with and Without Head Tremor.

The relationship between two common movement disorders, dystonia and tremor, is controversial. Both deficits have correlates in the network that includes connections between the cerebellum and the basal ganglia. In order to assess the physiological relationship between tremor and dystonia, we measured the activity of 727 pallidal single-neurons during deep brain stimulation surgery in patients with cervical dystonia without head oscillations, cervical dystonia plus jerky oscillations, and cervical dystonia with sinusoidal oscillations. Cluster analyses of spike-train recordings allowed classification of the pallidal activity into burst, pause, and tonic. Burst neurons were more common, and number of spikes within spike and inter-burst intervals was shorter in pure dystonia and jerky oscillation groups compared to the sinusoidal oscillation group. Pause neurons were more common and irregular in pure tremor group compared to pure dystonia and jerky oscillation groups. There was bihemispheric asymmetry in spontaneous firing discharge in pure dystonia and jerky oscillation groups, but not in sinusoidal oscillation group. These results demonstrate that the physiology of pallidal neurons in patients with pure cervical dystonia is similar to those who have cervical dystonia combined with jerky oscillations, but different from those who have cervical dystonia combined with sinusoidal oscillations. These results imply distinct mechanistic underpinnings for different types of head oscillations in cervical dystonia.

Rest tremor in dystonia: epidemiology, differential diagnosis, and pathophysiology.

BACKGROUND: The most common type of tremor reported in dystonia patients is postural and kinetic. There is uncertainty regarding the prevalence of rest tremor in dystonia. OBJECTIVE: This review focuses on the clinical and neurophysiological features of rest tremor in dystonia, its differential diagnosis, and methods to distinguish it from other rest tremor syndromes. METHODS: A PubMed search was done, and the available literature identified. Bibliography of the available literature was reviewed for relevant references. RESULTS: Rest tremor in dystonia has been reported with a variable frequency of 1.81-12.05%. The most common body distribution is arm, and it tends to be asymmetric. Most of the affected patients have multifocal and segmental dystonia. Rest tremor is a late-onset phenomenon associated with severe and spreading dystonia. Clinically, it is difficult to distinguish rest tremor in dystonia from other rest tremor syndromes based on tremor characteristics; however, other neurological signs can provide clues to differentiate these syndromes. Surface electromyography and other neurophysiological tests can help differentiate the various rest tremor syndromes. CONCLUSION: Rest tremor in dystonia can be differentiated from other rest tremor syndromes based on neurophysiological techniques. There is some evidence to suggest that SWEDDs could be a form of dystonic tremor, but further studies are required to clarify this diagnostic dilemma. Data regarding the treatment of rest tremor in dystonia are virtually nonexistent, and there is an urgent need for prospective studies focusing its medical management and to know the surgical targets.

Spasmodic dysphonia as a presenting symptom of spinocerebellar ataxia type 12.

Autosomal dominant spinocerebellar ataxia (SCA) type 12 is a rare SCA characterized by a heterogeneous phenotype. Action tremor of the upper limbs is the most common presenting sign and cerebellar signs can appear subsequently. In many cases, minor signs, like dystonia, can be predominant even at onset. Laryngeal dystonia (spasmodic dysphonia) has been observed only in one case of SCA12 and never reported at disease onset. We present a 61-year-old female who developed spasmodic dysphonia followed by dystonic tremor and subsequent ataxia diagnosed with SCA12. Thus, spasmodic dysphonia can be a presenting symptom of SCA12.

Tremor.

INTRODUCTION OR BACKGROUND: Tremor is one of the commonest movement disorders and can be disabling. There are many causes and treatment options include medications, adaptations, botulinum toxin injections and functional neurosurgery. SOURCES OF DATA: Pubmed.gov peer-reviewed journal articles and reviews. AREAS OF AGREEMENT: A new tremor classification has been published. Axis 1 of this classification highlights the clinical characteristics of tremor and axis 2 is dedicated to aetiology. The cerebello-thalamo-cortical network and connections to other brain areas is emerging as pivotal to many types of tremor. AREAS OF CONTROVERSY: There has been ongoing debate around the clinical entity of essential tremor and its pathophysiological basis. GROWING POINTS: Increasing understanding of the pathophysiology underpinning tremor is helping to improve classification and is pushing forward trials of new treatment options, particularly surgical options. AREAS TIMELY FOR DEVELOPING RESEARCH: With deeper phenotyping from the new classification, genetics of common forms of tremor are ripe for discovery. New pharmacological therapeutic options are needed to complement the better understanding of the basis of tremor.

Stimulating at the right time: phase-specific deep brain stimulation.

SEE MOLL AND ENGEL DOI101093/AWW308 FOR A SCIENTIFIC COMMENTARY ON THIS ARTICLE: Brain regions dynamically engage and disengage with one another to execute everyday actions from movement to decision making. Pathologies such as Parkinson's disease and tremor emerge when brain regions controlling movement cannot readily decouple, compromising motor function. Here, we propose a novel stimulation strategy that selectively regulates neural synchrony through phase-specific stimulation. We demonstrate for the first time the therapeutic potential of such a stimulation strategy for the treatment of patients with pathological tremor. Symptom suppression is achieved by delivering stimulation to the ventrolateral thalamus, timed according to the patient's tremor rhythm. Sustained locking of deep brain stimulation to a particular phase of tremor afforded clinically significant tremor relief (up to 87% tremor suppression) in selected patients with essential tremor despite delivering less than half the energy of conventional high frequency stimulation. Phase-specific stimulation efficacy depended on the resonant characteristics of the underlying tremor network. Selective regulation of neural synchrony through phase-locked stimulation has the potential to both increase the efficiency of therapy and to minimize stimulation-induced side effects.

[The new tremor classification of the International Parkinson and Movement Disorder Society : Update on frequent tremors]. / Die neue Tremorklassifikation der International Parkinson and Movement Disorder Society : Update zu häufigen Tremores.

Tremor is one of the most frequent movement disorders. The recently published new classification of the Movement Disorder Society separates the clinical description of tremor syndromes as so-called axis 1 symptom constellations from the etiologies of tremor (axis 2). The same tremor syndromes can therefore be combined with different causes and vice versa. The terminology used in this classification is precisely defined and thereby also the necessary language for medical communication. Frequent tremor syndromes, such as enhanced physiologic tremor, dystonic and parkinsonian tremor as well as focal tremors and task and position-specific tremors are discussed with respect to the phenomenology, and current therapy.

Physiology of midbrain head movement neurons in cervical dystonia.

BACKGROUND: Early theories for cervical dystonia, as promoted by Hassler, emphasized the role of the midbrain interstitial nucleus of Cajal. Focus then shifted to the basal ganglia, and it was further supported with the success of deep brain stimulation. Contemporary theories suggested the role of the cerebellum, but even more recent hypotheses renewed interest in the midbrain. Although the pretectum was visited on several occasions, we still do not know about the physiology of midbrain neurons in cervical dystonia. METHODS: We analyzed the unique database of pretectal neurons collected in the 1970s and 1980s during historic stereotactic surgeries aimed to treat cervical dystonia. This database is valuable because such recordings could otherwise never be obtained from humans. RESULTS: We found the following 3 types of eye or neck movement sensitivity: eye-only neurons responded to pure vertical eye movements, neck-only neurons were sensitive to pure neck movements, and the combined eye-neck neurons responded to eye and neck movements. There were the 2 neuronal subtypes: burst-tonic and tonic. The eye-neck or eye-only neurons sustained their activity during eccentric gaze holding. In contrast, the response of neck-only and eye-neck neurons exponentially decayed during neck movements. CONCLUSIONS: Modern quantitative analysis of a historic database of midbrain single units from patients with cervical dystonia might support novel hypotheses for normal and abnormal head movements. This data, collected almost 4 decades ago, must be carefully viewed, especially because it was acquired using a less sophisticated technology available at that time and the aim was not to address specific hypothesis, but to make an accurate lesion providing optimal relief from dystonia. © 2017 International Parkinson and Movement Disorder Society.

Patients with scans without evidence of dopaminergic deficit: a long-term follow-up study.

BACKGROUND: We previously reported on a cohort of dystonic tremor and patients with scans without evidence of dopaminergic deficit (SWEDDs). We aim to report the long-term clinical and imaging follow-up of these patients. PATIENTS AND METHODS: Patients with at least 5-year follow-up were included. These patients had an asymmetric arm tremor, a previous diagnosis of Parkinson's disease (PD), and a subsequent normal DaTscan. The imaging and clinical follow-up was done on the clinical basis. RESULTS: Sixteen patients were included. The mean gap between the first and subsequent scans was 5.4 years. Two patients (12.5%) had reduced nigrostriatal uptake on follow-up DaTscan, whereas 14 continued to have normal dopaminergic imaging. CONCLUSION: This is the longest follow up of patients with asymmetric rest tremor and normal DaT scans (SWEDDs) reported to date. We show here that only a minority of them show reduced striatonigral uptake over long term follow up.

Deep brain stimulation in the ventrolateral thalamus/subthalamic area in dystonia with head tremor.

BACKGROUND: Pallidal deep brain stimulation (GPi-DBS) effectively ameliorates idiopathic dystonia, although approximately 15% of patients respond insufficiently. Although various thalamic and subthalamic targets have been suggested for dystonic tremor, no systematic studies have been published on thalamic DBS in dystonic tremor. We assessed the effect of thalamic/subthalamic area DBS (Th-DBS) on dystonic head tremor and dystonia in a single-blind design. METHODS: Dystonic head tremor and dystonia before and 3 months after surgery were quantified via blinded video-ratings using the Fahn-Tolosa-Marin-Tremor-Scale and the Burke-Fahn-Marsden-Dystonia-Rating-Scale in seven patients with idiopathic cervical or segmental dystonia, dystonic head tremor, and bilateral Th-DBS. Pain, side effects, adverse events, and stimulation parameters were assessed. RESULTS: Th-DBS improved dystonic tremor and dystonia (P < 0.05; 57.1% and 70.4%, respectively). Head tremor amplitude and pain were also improved (P < 0.05; 77.5% and 90.0%, respectively). Side effects included dysarthria, gait disturbance, slowness of movement, and weight gain. CONCLUSION: Dystonic head tremor and dystonia can be improved with Th-DBS.

The phenotypic spectrum of DYT24 due to ANO3 mutations.

Genes causing primary dystonia are rare. Recently, pathogenic mutations in the anoctamin 3 gene (ANO3) have been identified to cause autosomal dominant craniocervical dystonia and have been assigned to the dystonia locus dystonia-24 (DYT24). Here, we expand on the phenotypic spectrum of DYT24 and provide demonstrative videos. Moreover, tremor recordings were performed, and back-averaged electroencephalography, sensory evoked potentials, and C-reflex studies were carried out in two individuals who carried two different mutations in ANO3. Ten patients from three families are described. The age at onset ranged from early childhood to the forties. Cervical dystonia was the most common site of onset followed by laryngeal dystonia. The characteristic feature in all affected individuals was the presence of tremor, which contrasts DYT24 from the typical DYT6 phenotype. Tremor was the sole initial manifestation in some individuals with ANO3 mutations, leading to misdiagnosis as essential tremor. Electrophysiology in two patients with two different mutations showed co-contraction of antagonist muscles, confirming dystonia, and a 6-Hz arm tremor at rest, which increased in amplitude during action. In one of the studied patients, clinically superimposed myoclonus was observed. The duration of the myoclonus was in the range of 250 msec at about 3 Hz, which is more consistent with subcortical myoclonus. In summary, ANO3 causes a varied phenotype of young-onset or adult-onset craniocervical dystonia with tremor and/or myoclonic jerks. Patients with familial cervical dystonia who also have myoclonus-dystonia as well as patients with prominent tremor and mild dystonia should be tested for ANO3 mutations.

A clinical study of non-parkinsonian tremor in Moroccan patients.

OBJECTIVE: To report the characteristics of the most frequent tremors in a population of Moroccan patients. BACKGROUND: Tremor is the most common movement disorder. It implies a wide variety of disorders with Parkinson's disease and essential tremor being the most frequent. METHODS: A retrospective study of 148 patients with tremor referred to our movement disorders outpatient clinic was performed. Clinical features and treatment regimens were analyzed. Patients with parkinsonian tremor were excluded. RESULTS: We included 62 patients with non-parkinsonian tremor. The etiologies were as follows: essential tremor (54.8%), dystonic tremor (19.4%), tremor associated with dystonia (14.5%), enhanced physiological tremor (3.2%), cerebellar tremor (3.2%), psychogenic tremor (3.2%) and Holmes' tremor (1.6%). The characteristics of essential tremor patients were analyzed. Female patients accounted for 67.6% of patients. Mean age at the onset of tremor was 52.2 ± 16.4 years. Family history of tremor was reported in 17.6% of cases. Tremor affected the arms (94.1%), head (52.9%), voice (35.3%) and legs (8.8%). Tremor was bilateral in 87.5% but was asymmetrical in 50% of patients. Patients had postural tremor (76.5%), kinetic tremor (79.4%) and rest tremor (associated in 11.8%). Treatment relied on propranolol (88.3%), primidone (14.7%), gabapentin (14.7%), clonazepam (14.7%), alprazolam (11.8%), topiramate (5.9%) and, in one patient, radiosurgery. CONCLUSIONS: Essential tremor was the predominant diagnosis, confirming its high prevalence. There was a predominance of female patients and a peak of age at onset in the fifth and sixth decades. Asymmetry of the disease was noted in half of patients.

A Case Series of Isolated Smiling Tremor: What Is the Phenomenology?

BACKGROUND: Five cases of tremor only upon smiling have been reported where no facial tremor is present at rest, when talking, or with full smile. CASES: This report highlights four cases of tremor upon partial smiling, discusses the phenomenology of smiling tremor, and reviews the current literature. Four subjects with lower facial tremor present only upon smiling underwent movement disorders evaluation with video. Tremor frequencies were determined by parsing the video clips into 1-second intervals and averaging the number of oscillations per interval and were determined to be high-frequency 8 to 10 Hz irregular facial tremors with harmonic variations upon moderate effort in all cases. Slight or full-effort smiling did not elicit facial muscle oscillations. Subjects had no other signs of tremor, dystonia, or parkinsonism on examination or in family history. CONCLUSIONS: Tremor upon smiling only, or isolated smiling tremor, is a unique task- and position-specific tremor of the facial musculature.