Head Tremor Research Articles

Cognitive Impairment in a Complex Family With AAGGG and ACAGG Repeat Expansions in RFC1 Detected by ExpansionHunter Denovo.

We investigated the genetic basis and brain metabolism and blood flow of a Japanese family with spinocerebellar degeneration (SCD), with multiple affected members for 3 generations. After excluding DNA repeat expansion (RE) of common SCD genes by fragment analysis, we performed whole-exome sequencing (WES) and whole-genome sequencing (WGS). Homozygosity mapping was performed using these data. REs were investigated with WGS data using ExpansionHunter Denovo and Expansion Hunter. WES and WGS were unable to identify likely pathogenic variants, and homozygosity mapping failed to narrow down the locus. However, ExpansionHunter Denovo detected REs in intron 2 of the RFC1 gene and led us to the diagnosis of RFC1-related disorders. Subsequent repeat-primed PCR and Southern blot hybridization analyses revealed that 3 of 6 patients and 1 suspected individual had expansions of AAGGG ((AAGGG)exp) and (ACAGG)exp repeats in a compound heterozygous state and 3 had a homozygous (ACAGG)exp. The patients showed a variety of clinical features, including adult-onset ataxia, sensorimotor neuropathy, head tremor, parkinsonism, dystonia, and cognitive impairment. A comparison of previous reports with those of the family in study suggested that motor neuropathy could be a feature of compound heterozygous patients and biallelic (ACAGG)exp patients. Cognitive function tests showed cognitive impairment with a predominance of frontal lobe dysfunction. Examination of MRI, SPECT, and 18F-fluorodeoxyglucose-PET showed clear cortical damage with frontal lobe predominance in 1 case, but no cerebral damage was evident in the other 2 cases. Our report shows the usefulness of WGS and RE detection tools for SCD of unknown cause. The studied family with RFC1-related disorders included patients with (ACAGG)exp and (AAGGG)exp in a compound heterozygous state and was characterized by motor neuropathy. Based on the results of cognitive function tests and imaging studies, 1 patient presented with cognitive impairment due to frontal lobe metabolic changes, but there were also patients who presented with cognitive impairment without apparent cerebral metabolic or blood flow, suggesting that other factors are also associated with cognitive impairment.

Somatosensory temporal discrimination threshold does not discriminate between patients with essential and dystonic head tremor

Somatosensory temporal discrimination threshold does not discriminate between patients with essential and dystonic head tremor

Quantification of Head Tremors in Medical Conditions: A Comparison of Analyses Using a 2D Video Camera and a 3D Wireless Inertial Motion Unit

This study compares two methods to quantify the amplitude and frequency of head movements in patients with head tremor: one based on video-based motion analysis, and the other using a miniature wireless inertial magnetic motion unit (IMMU). Concomitant with the clinical assessment of head tremor severity, head linear displacements in the frontal plane and head angular displacements in three dimensions were obtained simultaneously in forty-nine patients using one video camera and an IMMU in three experimental conditions while sitting (at rest, counting backward, and with arms extended). Head tremor amplitude was quantified along/around each axis, and head tremor frequency was analyzed in the frequency and time-frequency domains. Correlation analysis investigated the association between the clinical severity of head tremor and head linear and angular displacements. Our results showed better sensitivity of the IMMU compared to a 2D video camera to detect changes of tremor amplitude according to examination conditions, and better agreement with clinical measures. The frequency of head tremor calculated from video data in the frequency domain was higher than that obtained using time-frequency analysis and those calculated from the IMMU data. This study provides strong experimental evidence in favor of using an IMMU to quantify the amplitude and time-frequency oscillatory features of head tremor, especially in medical conditions.

Botulinum Toxin for Essential Tremor and Hands Tremor in the Neurological Diseases: A Meta-Analysis of Randomized Controlled Trials

Tremor is a common movement disorder. Essential tremor (ET) is the most common etiology of tremor, while hands tremor is the most disabling type of tremor. This study aimed to explore the effects of Botulinum toxin (BoNT) on tremor within 6 weeks of treatment, and the muscular weakness adverse effect within 6 weeks specifically in randomized controlled trials. PubMed, Embase, and Cochrane Library databases were searched. Tremor severity and grip strength after BoNT treatment were investigated. BoNT significantly attenuated hand tremor severity in patients with either essential tremor (ET), Parkinson’s disease or multiple sclerosis (Standardized mean difference [SMD] = −0.59, 95% confidence interval [CI], −0.95 to −0.24, p = 0.001, I2 = 46%). Regarding people with ET, BoNT significantly reduced their tremor severity, including hands tremor and head tremor within 6 weeks of treatment (SMD = −0.58, 95% CI, −0.28 to −0.88, p = 0.002, I2 = 0%). Electromyography (EMG) but not anatomical guidance BoNT injection provided significant benefit on the relief of tremor in both conditions. The principal adverse event was weakness, but it did not worse within 6 weeks of BoNT treatment (SMD = −0.35, 95% CI, −0.83 to 0.12, p = 0.07, I2 = 57%), as assessed by the subjective grip strength. In conclusion, BoNT was an effective treatment for the hand tremor and ET, and EMG guidance injection was preferred. In addition, the muscular weakness adverse effect was not significant.

Connotation of Baimai disease and analysis of compatibility and usage of Baimai Ointment: based on Tibetan medicine theory

Baimai is a complex of structure and function with the characteristics of wide distribution, complex structure, and multi-dimensional functions. Baimai, consisting of the channels in brain, the internal hidden channels connecting the viscera, and the external channels linking the limbs, governs the sensory, motor, and information transmission functions of human. According to Tibetan medicine, Baimai functions via "Long"(Qi) which moves in Baimai. "Long" is rough, light, cold, tiny, hard, and dynamic. The dysfunction of Baimai is manifested as numbness, swelling and pain, stiffness, atrophy, contracture, disability, hyperactivity, etc. The clinical manifestations of Baimai disease are facial paralysis, limb numbness, hemiplegia, contracture and rigidity, pain, opistho-tonos, paralysis, unconsciousness, head tremor, aphasia and tongue stiffness, and other abnormalities in facial consciousness, limb movement, and tactile sensation. Baimai Ointment for external use is used for the treatment of Baimai disease. It is mainly composed of medicinals which are spicy and bitter, warm, soft, mild, heavy, moist, and stable, and thus it is effective for the rough, light, cold, tiny, hard, and dynamic "Long" of Baimai disease. In clinical practice, it is mainly used for musculoskeletal diseases, such as osteoarthritis, scapulohumeral periarthritis, cervical spondylosis, low back pain, myofascitis, and tenosynovitis, nervous system diseases, such as paralysis and shoulder-hand syndrome, and limb stiffness caused by stroke, spastic cerebral palsy, trigeminal neuralgia, and facial neuritis, and limb motor and sensory dysfunction caused by trauma. According to the main symptoms of Baimai disease such as stiffness, rigidity, contraction, numbness, sensory disturbance and pain, clinicians should apply the Baimai Ointment via the inunction treatment of Tibetan medicine and in combination with Huo'ermai therapy and physiotherapy.

Stage C neuro-HIV revealed by head tremor: a case study with review of the literature

The neurological manifestations of HIV infection are very numerous and varied. In 2018, in Morocco, 30% of seropositive subjects are unaware of their infection. Our patient was one of them. Observation: Authors report the case of a 28-year-old woman, widowed at the age of 20 after a traffic accident. In 2009, she moved to Senegal with the onset of chronic consumption of tobacco and alcohol and unprotected sexual relations with multiple partners. The patient was admitted to our training for an insidious symptomatology going back a year, marked by tremor of the head, improved by the alcohol intake, in a context of weight loss not quantified. The examination objectified a statokinetic cerebellar syndrome. Brain magnetic resonance imaging (MRI) did not show any atrophy or cerebellar damage. The main diagnoses discussed were: sequelae of viral cerebellitis, neurological complications of alcohol intoxication and essential tremor. The complete blood count demonstrated lymphopenia at 660 µL. The HIV and CMV serologies came back positive. Universal meningeal PCR returned VZV. The diagnosis of cerebellar VZV on AIDS was retained. The patient was initially put on Ganciclovir with marked regression of the tremors then on triple therapy after announcement of the diagnosis. Conclusion: The VZV is the 2nd cause of viral cerebrellitis after the West Nile virus. It can be seen in both the immunocompetent and the immunocompromised. The absence of a concomitant rash is not an exclusion criterion. However, its presence makes diagnostic suspicion easier.
 Keywords: head tremor, cerebellitis, HIV, VZV, alcohol, essential tremor.

Head tremor in cervical dystonia: Quantifying severity with computer vision

BackgroundHead tremor (HT) is a common feature of cervical dystonia (CD), usually quantified by subjective observation. Technological developments offer alternatives for measuring HT severity that are objective and amenable to automation. ObjectivesOur objectives were to develop CMOR (Computational Motor Objective Rater; a computer vision-based software system) to quantify oscillatory and directional aspects of HT from video recordings during a clinical examination and to test its convergent validity with clinical rating scales. MethodsFor 93 participants with isolated CD and HT enrolled by the Dystonia Coalition, we analyzed video recordings from an examination segment in which participants were instructed to let their head drift to its most comfortable dystonic position. We evaluated peak power, frequency, and directional dominance, and used Spearman's correlation to measure the agreement between CMOR and clinical ratings. ResultsPower averaged 0.90 (SD 1.80) deg2/Hz, and peak frequency 1.95 (SD 0.94) Hz. The dominant HT axis was pitch (antero/retrocollis) for 50%, roll (laterocollis) for 6%, and yaw (torticollis) for 44% of participants. One-sided t-tests showed substantial contributions from the secondary (t = 18.17, p < 0.0001) and tertiary (t = 12.89, p < 0.0001) HT axes. CMOR's HT severity measure positively correlated with the HT item on the Toronto Western Spasmodic Torticollis Rating Scale-2 (Spearman's rho = 0.54, p < 0.001). ConclusionsWe demonstrate a new objective method to measure HT severity that requires only conventional video recordings, quantifies the complexities of HT in CD, and exhibits convergent validity with clinical severity ratings.

Focused Ultrasound Thalamotomy in Tremor Dominant Parkinson's Disease: Long-Term Results.

Background:MRI-guided focused ultrasound (FUS) has established short-term efficacy in tremor relief.Objective:We report our long-term experience of treating tremor with unilateral FUS unilateral VIM-thalamotomy in tremor dominant Parkinson’s disease (TDPD) patients.Methods:We report outcome of FUS thalamotomy in TDPD patients with 1–5 years of follow-up. Outcomes: tremor reduction assessed with Clinical Rating Scale for Tremor (CRST) and Unified Parkinson’s Disease Rating Scale (UPDRS part III) overall and in the treated hemibody and safety.Results:Twenty-six TDPD patients completed 1–5 years of follow-up (median follow-up 36 months, range 12–60 months). Median age was 60 years (range 46–79), with median disease duration of 6 years (range 2–16). Immediately, treatment resulted in 100%improvement in tremor in the treated arm in 23 patients and 90%improvement in 3 patients. In 15 patients with leg tremor, 2 patients with chin tremor and 1 patient with head tremor, tremor was significantly improved. Up to 5 years, median CRST score, median UPDRS score, overall and in treated hemibody, decreased significantly as compared with baseline (p < 0.0001). In 2 patients tremor returned completely and in 8 patients there was partial return of tremor. Adverse events were mild and resolved within 3 months. At baseline 4 patients were not receiving any medication vs. 3 at last follow-up and 15 were not taking levodopa vs.9 at last follow-up.Conclusion:Unilateral FUS VIM-thalamotomy in TDPD patients was effective and safe and provided long-term tremor relief in most patients. FUS thalamotomy for tremor may delay initiation of levodopa treatment.

Globoid cell leukodystrophy in two dachshund siblings

AbstractAn 11‐week‐old male dachshund and its 13‐week‐old female sibling presented with slowly progressive gait abnormalities, cerebellar ataxia and intention head tremor. In the pedigree of their parents, there were no signs of these neurological abnormalities. The magnetic resonance imaging scan results, cerebrospinal fluid and complete blood analysis obtained in the male dog were not consistent with metabolic, infectious or anomalous conditions, leaving a degenerative disorder as the most likely differential diagnosis. Both puppies were euthanased (male after 3 weeks and female after 6 weeks) due to diffuse central nervous system abnormalities. Histopathology findings were consistent with globoid cell leukodystrophy. To the authors’ knowledge, this is the first confirmed case of this lysosomal storage disease in a dachshund.

Involvement of Hippocampal Astrocytic Connexin-43 in Morphine dependence

Repeated exposure to drugs of abuse can lead to dysregulation of chemical synapses by altering the release and uptake of neurotransmitters. Such alterations in neurotransmission modify synaptic plasticity which causes addictive-like behaviors. Our previous study shed light on the involvement of glial cells in morphine-induced behavioral responses. It has been shown that glial cells play an indispensable role in synaptic transmission through the release of gliotransmitter into and uptake of neurotransmitters from the synaptic cleft. Connexin-43 (Cx43), the dominant Cx protein in astrocytes, is the main component of astrocytic gap junctions and hemichannels. It has a critical role in synaptic efficacy through setting the amount of presynaptic gliotransmitter release in physiological conditions. It is probable that addictive substances affecting gliotransmitters release through the alteration of Cx43 function. In this study, we examined the role of the hippocampal-specific astrocytic connexin (Cx43) in morphine-induced behavioral responses. Male rats received subcutaneous (s.c.) morphine sulfate (10 mg/kg) at an interval of 12 h for 9 days. The animals received microinjection of TAT-Gap19 (inhibitor of Cx43) into the CA1 region before each morning morphine administration. The animals were assessed for morphine dependence by monitoring naloxone hydrochloride precipitated withdrawal somatic signs. Results showed that animals receiving TAT-Gap19 before morphine injection demonstrated a significant reduction in several signs of morphine withdrawal such as Activity, Freezing, Chewing, Ptosis, Defecation, Teeth chattering, Writhing, Penis- licking, Head tremor, Scratching, Sniffing, Rearing, and Diarrhea (One way ANOVA, P < 0.001; P < 0.01; P < 0.05). Our findings suggest that hippocampal Cx43 may be involved in morphine-induced behavioral responses. Therefore, gliotransmitter release by astrocytes seems to be a mechanism which is engaged in addictive-like behaviors.

Is essential tremor a family of diseases or a syndrome? A family of diseases.

It is now well-established that essential tremor (ET) can manifest with different clinical presentations and progressions (i.e., upper limb tremor, head tremor, voice tremor, lower limb tremor, task- or position-specific tremor, or a combination of those). Common traits and overlaps are identifiable across these different subtypes of ET, including a slow rate of progression, a response to alcohol and a positive family history. At the same time, each of these manifestations are associated with specific demographic, clinical and treatment-response characteristics suggesting a family of diseases rather than a spectrum of a syndrome. Here we summarize the most important clinical, demographic, neuropathological and imagingfeatures of ET and of its subtypes to support ET as a family of identifiable conditions. This classification has relevance for counseling of patients with regard to disease progression and treatment response, as well as for the design of therapeutic clinical trials.

Age and Sex Affect Essential Tremor (ET) Plus: Clinical Heterogeneity in ET Based on the National Survey in China.

The new term essential tremor (ET) plus was proposed in the 2018 tremor consensus criteria. The National Survey of Essential Tremor Plus in China, a large multicenter registry study, aimed to evaluate the clinical features of pure ET and ET plus and explore possible factors related to ET plus. All patients with ET underwent neurological examination and neuropsychological assessment at 17 clinical sites. The diagnosis was made according to the 2018 consensus criteria. Clinicodemographic characteristics were analyzed. A total of 1160 patients were included, including 546 patients with pure ET and 614 patients with ET plus. The proportion of females was significantly higher in the ET plus than that in the pure ET (P = 0.001). The age at onset (AAO) of pure ET showed a bimodal distribution, with peaks in the 2nd and 5th decades. However, the AAO of the ET plus group demonstrated a skewed distribution, with a single peak in the 6th decade. Female sex (OR=1.645, P<0.001), older age (OR=1.023, P<0.001), lower educational level (OR=0.934, P<0.001), head tremor (OR=1.457, P<0.001), and higher the Tremor Research Group Essential Tremor Rating Assessment Scale (TETRAS)-II scores (OR=1.134, P<0.001) were significantly associated with ET plus. Old age and female sex may contribute to ET plus development. Pure ET showed a bimodal distribution for AAO, whereas ET plus showed a unimodal distribution. It remains unclear whether pure ET and ET plus are merely different stages of a single disease or represent distinct disease entities.

A Case Report of Acupotomy and Herbal Medicine Treatment for Patient with Head Tremor

A Case Report of Acupotomy and Herbal Medicine Treatment for Patient with Head Tremor

Longitudinal evaluation of patients with isolated head tremor

IntroductionIsolated head tremor, a pathological condition characterized by head tremor without dystonic postures or tremor in other body parts, has recently been suggested to be a form of dystonia. It is however still unclear whether isolated head tremor precedes dystonia or remains unmodified overtime. MethodsWe enrolled 20 patients with isolated head tremor. For each patient, we assessed videos recorded at enrollment and after 5 years. The videotapes were reviewed by two independent experienced movement disorder specialists who evaluated and scored tremor and CD severity using the Fahn-Tolosa-Marin Clinical Rating Scale for Tremor and the revised Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS), respectively. ResultsUpon enrollment, all 20 patients showed isolated head tremor. Mean tremor severity was 2.7 ± 0.9 as measured using the Fahn-Tolosa-Marin Clinical Rating Scale for Tremor total score. At the 5-year follow-up examination, 15 (75%) of the 20 patients with isolated head tremor showed dystonic postures in the neck, while the remaining 5 patients (25%) had only isolated head tremor. Mean severity of dystonia as measured using the TWSTRS-2 total score was 11.8 ± 3.6. Head tremor severity was unchanged between baseline and the 5-year follow-up examination (p > 0.05). At the follow-up examination, no patients had tremor or dystonia in a body part other than the neck, nor did they develop bradykinesia or other parkinsonian signs. ConclusionsOur longitudinal study demonstrated that patients with isolated head tremor may develop cervical dystonia over time.

Correlation between head tremble and the severity of Parkinson's disease.

IntroductionParkinson's (PD) is a common degenerative disease of the central nervous system. It affects more than 6 million individuals worldwide. The typical clinical manifestations include static tremor, slow movement, and unstable posture. However, the correlation between head tremor and the severity of PD remains unclear.MethodsIn the current study, 18 patients and 18 healthy subjects were recruited to undergo a phonation test. Noldus facereader 7.0 software was used to analyze the range of head trembling between the two groups.ResultsThe data revealed that patients with PD had significant differences in the x‐, y‐, and z‐axis of head movement with respect to the specific pronunciation syllables compared with the normal group. Moreover, the head movement of the patients with PD was positively correlated with the severity of the disease in the single, double, and multiple syllable tests. In the phonetic test, the head displacement of patients with PD was significantly greater than that of healthy individuals, and the displacement range was positively correlated with the severity of the disease.ConclusionThese pieces of evidence suggested that the measurement of head displacement assists the early diagnosis and severity of the disease.

The role of hippocampal glial glutamate transporter (GLT-1) in morphine-induced behavioral responses.

Opioid abuse modifies synaptic plasticity, which leads to behavioral changes, such as morphine dependence, but the mechanism remains poorly understood. Glial cells play an important role in the modulation of synaptic plasticity and are involved in addictive‐like behaviors. The indisputable role of glutamate in opiate addiction has been shown. Astrocytes, a type of glial cells, which are integral functional elements of synapses, modulate the concentration of glutamate in the synaptic space. One of the most important mechanisms for glutamate concentration regulation is its uptake from the synaptic cleft. In this study, we evaluated the role of hippocampal glial glutamate transporter (GLT‐1) in morphine dependence. Male rats received subcutaneous (s.c.) morphine sulfate (10 mg/kg) at an interval of 12 h for 9 days. In order to activate GLT‐1, animals received an intrahippocampal injection of ceftriaxone (0.5 mmol/0.5 μl) in the CA1 region of the hippocampus, 30 min before each morphine administration. Rats were assessed for morphine dependence by monitoring naloxone hydrochloride‐induced morphine withdrawal. Our results showed that hippocampal microinjection of ceftriaxone, as an activator of GLT‐1, reduced some signs of morphine withdrawal, such as activity, diarrhea, head tremor, freezing, and ptosis. It seems that hippocampal GLT‐1 can be affected by chronic morphine administration and involved in morphine dependence. Therefore, its activation may reduce morphine side effects by reducing hippocampal glutamate.

Serotonin Syndrome Triggered by Increasing the Dose of Quetiapine.

Case presentationAn 85-year-old woman with a history of depression treated with polypharmacy including selective serotonin reuptake inhibitor presented to the emergency department with head, and upper and lower limb tremors four hours after increasing the dose of quetiapine from 12.5 milligrams (mg) per day to 25 mg/day. She was diagnosed with serotonin syndrome (SS), and all medications except clotiazepam were discontinued. The symptoms subsided within 48 hours.DiscussionThe use of atypical antipsychotics alone seldom increases the risk of SS. However, combining atypical antipsychotics with serotonergic agents increases the risk of SS because the activity of serotonin receptor subtype 1A is relatively enhanced. This report suggests that physicians should be aware that even a small increase in quetiapine could pose a risk of developing SS.

Does Raising the Arms Modify Head Tremor Severity in Cervical Dystonia?

Background:A defining characteristic of dystonia is its position-dependence. In cervical dystonia (CD), sensory tricks ameliorate head tremor (HT). But it remains unknown whether raising the arms alone has the same impact.Methods:We analyzed data collected from patients enrolled by the Dystonia Coalition. For 120 patients with HT, we assessed how raising their arms without touching their head changed their HT severity.Results:Forty-eight out of 120 patients exhibited changes in HT severity when raising their arms. These patients were more likely to exhibit decreases in HT severity (N = 35) than increases (N = 13, χ2 (1, N = 48) = 10.1, p = 0.002). Demographic factors and sensory trick efficacy were not significant predictors of whether HT severity changed when raising their arms.Discussion:Raising the arms without touching the head is a posture that can reduce HT severity in some CD patients. Our results extend the concept of position-dependent motor symptoms in CD to include the position of the arms.HighlightsHead tremor (HT) is a prevalent symptom of cervical dystonia (CD) that can often be disabling. This study demonstrates that raising the arms without touching the head is a posture that can reduce HT severity in some CD patients. Our findings also identify a novel form of position-dependence in CD.

Can Isolated Head Tremors Be an Extrapyramidal Symptom Associated with Lurasidone?-A Case Series.

Can Isolated Head Tremors Be an Extrapyramidal Symptom Associated with Lurasidone?-A Case Series.

Teaching Video NeuroImage: New STUB1 Variant Causes Chorea, Tremor, Dystonia, Myoclonus, Ataxia, Depression, Cognitive Impairment, Epilepsy, and Superficial Siderosis.

We present a family with a wide range of movement disorders carrying a new heterozygous splice variant in STUB1 (NM\_005861:c.787-2\_787del), probably causing skipping of exon 7, as relevant differential diagnosis to Huntington disease.1,2 The grandmother and mother (improved with olanzapine) presented with chorea, dystonia (also platysma), head tremor, orofacial dyskinesias (prior to neuroleptics), saccadic eye movements, ataxia with cerebellar atrophy (Figure), depression, cachexia, and cognitive impairment. The grandmother had epilepsy and the mother had superficial siderosis (Figure). The son presented with depression, left-sided myoclonus and ataxia, and tremor resembling essential tremor, which began in childhood, without alcohol sensitivity. STUB1 mutation in this family caused chorea, tremor, dystonia, myoclonus, ataxia, depression, cognitive impairment, epilepsy, and superficial siderosis (Video 1).