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Background: The merits of classifying the heterogeneous group of essential tremors into essential tremor (ET) and essential tremor plus (ETP) are debated. Objectives: We studied the electrophysiological and spiral characteristics of tremor in ET and ETP. Methods: We reviewed standardized videos from a tremor database and clinically classified patients into ET, ETP, or dystonic tremor (DT). The following variables were derived from combined tri‐axial accelerometry–surface electromyography (EMG)—peak frequency, total power, peak power, full width half maximum, tremor stability index and EMG‐coherence. We analyzed hand‐drawn spirals to derive mean deviation, tremor variability, inter‐, and intra‐loop widths. We compared these variables among the groups. Results: We recruited 72 participants (81.9% male) with mean age 47.7 ± 16.1 years and Fahn‐Tolosa‐Marin Tremor Rating Scale total score 31.1 ± 14.1. Patients with ET were younger (P = 0.014) and had less severe tremor (P = 0.020) compared to ETP and DT. In ETP group, 48.6% had subtle dystonia. Peak frequency was greater in ETP (7.3 ± 0.3 Hz) compared to DT (6.1 ± 0.4 Hz; P = 0.024). Peak power was greater in ETP and DT for postural tremor. Rest tremor was recordable on accelerometry in 26.7% of ET. Other variables were similar among the groups. Conclusion: Electrophysiological evaluation revealed postural tremor of frequency 6 to 7 Hz in ET, ETP, and DT with subtle differences more severe tremor in ETP and DT, and higher frequency in ETP compared to DT. Our findings suggest a similar tremor oscillator in these conditions, supporting the view that these entities are part of a spectrum of tremor disorders, rather than distinct etiological entities. [ABSTRACT FROM AUTHOR]

Primary coenzyme Q10 (CoQ10) deficiency is a rare genetic disorder that affects mitochondrial respiration and can lead to various symptoms such as cerebellar ataxia, intellectual disability, seizures, and more. The most common form of this disorder is primary CoQ10 deficiency-4 (COQ10D4), which is caused by a variant in the CoQ8A gene. This article presents a case study of a young male with slowly progressive cerebellar ataxia and dystonia caused by primary CoQ10 deficiency-4. Early supplementation of CoQ10 may result in favorable outcomes, so a timely diagnosis is essential. [Extracted from the article]

Tuberculosis involving the spinal cord is associated with high mortality and disabling long-term sequelae. Although tuberculous radiculomyelitis is the most frequent complication, pleomorphic clinical manifestations exist. Diagnosis can be challenging among patients with isolated spinal cord tuberculosis due to diverse clinical and radiological presentations. The principles of management of tuberculosis of the spinal cord are primarily derived from, and dependent upon, trials on tuberculous meningitis (TBM). Although facilitating mycobacterial killing and controlling host inflammatory response within the nervous system remain the primary objectives, several unique features require attention. The paradoxical worsening is more frequent, often with devastating outcomes. The role of anti-inflammatory agents such as steroids in adhesive tuberculous radiculomyelitis remains unclear. Surgical interventions may benefit a small proportion of patients with spinal cord tuberculosis. Currently, the evidence base in the management of spinal cord tuberculosis is limited to uncontrolled small-scale data. Despite the gargantuan burden of tuberculosis, particularly in lower and middle-income countries, large-scale cohesive data are surprisingly sparse. In this review, we highlight the varied clinical and radiological presentations, performance of various diagnostic modalities, summarize data on the efficacy of treatment options, and propose a way forward to improve outcomes in these patients. [ABSTRACT FROM AUTHOR]

Stem cells have proved to be the “wonder treatment” for various genetic diseases and holds great potential for the treatment of numerous, but presently incurable maladies. However, stem cells may not be the answer for all such diseases. With the rampant growth of clinics offering stem cell therapy for almost every incurable disease, it is prudent that the indications, ethical considerations, and potential side effects of this treatment are known to the physicians and patients. In this article, we have summarized the available evidence on stem cell therapy in spinocerebellar ataxias. [ABSTRACT FROM AUTHOR]

OBJECTIVE: To develop an automated algorithm to detect, quantify, and differentiate between tremor using pen-on-paper spirals. METHODS: Patients with essential tremor (n = 25), dystonic tremor (n = 25), Parkinson’s disease (n = 25), and healthy volunteers (HV, n = 25) drew free-hand spirals. The algorithm derived the mean deviation (MD) and tremor variability from scanned images. MD and tremor variability were compared with 1) the Bain and Findley scale, 2) the Fahn–Tolosa–Marin tremor rating scale (FTM–TRS), and 3) the peak power and total power of the accelerometer spectra. Inter and intra loop widths were computed to differentiate between the tremor. RESULTS: MD was higher in the tremor group (48.9±26.3) than in HV (26.4±5.3; p < 0.001). The cut-off value of 30.3 had 80.9% sensitivity and 76.0% specificity for the detection of the tremor [area under the curve: 0.83; 95% confidence index (CI): 0.75, 0.91, p < 0.001]. MD correlated with the Bain and Findley ratings (rho = 0.491, p = 0 < 0.001), FTM–TRS part B (rho = 0.260, p = 0.032) and accelerometric measures of postural tremor (total power, rho = 0.366, p < 0.001; peak power, rho = 0.402, p < 0.001). Minimum Detectable Change was 19.9%. Inter loop width distinguished Parkinson’s disease spirals from dystonic tremor (p < 0.001, 95% CI: 54.6, 211.1), essential tremor (p = 0.003, 95% CI: 28.5, 184.9), or HV (p = 0.036, 95% CI: -160.4, -3.9). CONCLUSION: The automated analysis of pen-on-paper spirals generated robust variables to quantify the tremor and putative variables to distinguish them from each other. SIGNIFICANCE: This technique maybe useful for epidemiological surveys and follow-up studies on tremor. [ABSTRACT FROM AUTHOR]

PSP-Like Phenotype in Genetically Confirmed SCA12 Keywords: SCA12; PSP; atypical parkinsonism; DaTSCAN EN SCA12 PSP atypical parkinsonism DaTSCAN 326 328 3 02/23/23 20230201 NES 230201 Spinocerebellar ataxia type 12 (SCA12) is an autosomal dominant cerebellar ataxia caused by CAG repeat expansions in the protein phosphatase 2 regulatory subunit B beta (PPP2R2B) gene in chromosome 5q.[1] The prevalence of SCA12 is high in Northern parts of India because of the common founder effect, and most of the affected families belong to the Agrawal community.[2] The commonest presenting symptom of SCA12 is the action tremors of upper limbs, which may precede the ataxia by many years.[[3]] Phenotypic spectrum of SCA12 also includes various non-ataxic manifestations, such as dystonia, parkinsonism, and cognitive impairment.[[1], [3]] Rarely, SCA12 can present as an "atypical atypical parkinsonism" and pose a diagnostic challenge.[5] A 61-year-old man from Punjab, India, presented with a history of progressive difficulty in walking, which worsened over the past 3 years with episodes of frequent falls. One should consider SCA12 in the differential diagnosis of atypical atypical parkinsonism with a PSP-like phenotype in a patient of ethnic origin where SCA12 is prevalent, even in the absence of family history. [Extracted from the article]

Objective: Neurological emergencies saw a paradigm shift in approach during the coronavirus disease-2019 (COVID-19) pandemic with the challenge to manage patients with and without COVID-19. We aimed to compare the various neurological disorders and 3 months outcome in patients with and without SARS-CoV-2 infection. Methods: In an ambispective cohort study design, we enrolled patients with and without SARS CoV-2 infection coming to a medical emergency with neurological disorders between April 2020 and September 2020. Demographic, clinical, biochemical, and treatment details of these patients were collected and compared. Their outcomes, both in-hospital and at 3 months were assessed by the modified Rankin Scale (mRS). Results: Two thirty-five patients (235) were enrolled from emergency services with neurological disorders. Of them, 81 (34.5%) were COVID-19 positive. The mean (SD) age was 49.5 (17.3) years, and the majority of the patients were male (63.0%). The commonest neurological diagnosis was acute ischemic stroke (AIS) (43.0%). The in-hospital mortality was higher in the patients who were COVID-19 positive (COVID-19 positive: 29 (35.8%) versus COVID-19 negative: 12 (7.8%), P value: <0.001). The 3 months telephonic follow-up could be completed in 73.2% of the patients (142/194). Four (12.1%) deaths occurred on follow-up in the COVID-19 positive versus fifteen (13.8%) in the COVID-19 negative patients (P value: 1.00). The 3-month mRS was worse in the COVID-19 positive group (P value <0.001). However, this was driven by higher in-hospital morbidity and mortality in COVID-19 positive patients. Conclusion: Patients with neurological disorders presenting with COVID-19 infection had worse outcomes, including in-hospital and 3 months disability. [ABSTRACT FROM AUTHOR]

Background: Early evidence suggests good response to pallidal deep brain stimulation (DBS) in DYT‐KMT2B. Objectives: We aimed to conduct a systematic review and meta‐analysis to assess outcomes and identify predictors of good outcome following GPi‐DBS in DYT‐KMT2B. Methods: We searched MEDLINE, Cochrane and MDS‐abstracts databases using the MeSH terms "KMT2B and DYT28". We included studies that reported objective outcomes following GPi‐DBS in DYT‐KMT2B. The BFMDRS‐M (Burke‐Fahn‐Marsden Dystonia Rating Scale‐ Movement) total scores pre‐ and post‐surgery were used to quantify outcomes. We calculated pooled effects using a random effects meta‐analysis and used meta‐regression to identify potential effect modifiers. Multiple linear regression using individual patient data was used to identify predictors of good outcome (>50% improvement from baseline on BFMDRS‐M). Results: Initial searches screened 132 abstracts of which 34 full‐text articles were identified to be of potential interest. Ten studies reporting 42 individual patients, met the inclusion/exclusion criteria and were included in the final review. The mean age at onset was 6.4 ± 5.7 years and 40% were male. The median follow‐up was 12 months (range: 1–264 months). GPi‐DBS resulted in median BFMDRS‐M improvement of 42.7% (range: −103.5% to 95.9%) postoperatively. Pooled proportion of patients experiencing clinical improvement >50% on BFMDRS‐M was 41% (95% CI: 27%–57%). Male gender [β: 22.6, 95% CI: 8.0–37.3, P = 0.004), and higher pre‐operative BFMDRS‐M score [β: 0.62, 95% CI: 0.36–0.87, P < 0.001) were independently associated with better outcome. Conclusion: KMT2B‐associated dystonia responds effectively to pallidal stimulation. The outcome is better in males and those with more severe dystonia at baseline. [ABSTRACT FROM AUTHOR]

Dystonia and Myelopathy in a Case of Stress-Induced Childhood-Onset Neurodegeneration with Ataxia and Seizures (CONDSIAS) Keywords: CONDSIAS, LETM, ADPRHL2, quadriparesis, ataxia EN CONDSIAS, LETM, ADPRHL2, quadriparesis, ataxia 156 158 3 01/06/21 20210101 NES 210101 Stress-induced childhood-onset neurodegeneration with ataxia and seizures (CONDSIAS) is an extremely rare, autosomal recessive, neuro-degenerative disorder caused by inactivating mutations in Adenosine di-phosphate ribosylhydrolase 2 ( I ADPRHL2 i ) gene. She was being evaluated for childhood onset episodic ataxia and generalized dystonia syndromes when during her hospital stay, she developed acute onset symmetric quadriparesis with bulbar dysfunction, bladder and bowel involvement (onset to peak: 5 days). [Extracted from the article]

We report a rare case of a 45 year old female with 15 year history of progressive left facial thinning with frequent episodes of involuntary jaw closure and almost continuous rippling movements over her left sided masticatory muscles. There was localized scleroderma, left facial hemi atrophy and left hemi masticatory spasm. Localized scleroderma was proven histopathologically. Electrophysiological studies revealed normal blink reflex on both sides. Her masseter inhibitory reflex was absent bilaterally and surface electromyogram showed spontaneous bursts of high frequency activity over bilateral masseter and left temporalis muscles. The patient responded remarkably with bilateral botulinum toxin injection. This case highlights presence of rare bilateral involvement of HMS especially on EMG and excellent response to botulinum toxin. [ABSTRACT FROM AUTHOR]

Parkinson's disease is a common movement disorder seen in neurological practice, but the diagnosis and management is challenging. The diagnosis is clinical and sometimes difficult, considering a large number of motor and non-motor symptoms in PD patients. The medical management of PD patients is difficult, as choices of drugs are limited and levodopa is the mainstay of treatment. However, levodopa-induced dyskinesia (LID) is commonly seen in Parkinson's disease patients treated with levodopa. This side effect is usually encountered after a long duration of treatment, but occasionally, this may be seen even after a few days or months of treatment. Different types of surgical approaches, including unilateral pallidotomy and deep brain stimulation, have given very good results in PD patients, who cannot be managed by medications alone. [ABSTRACT FROM AUTHOR]

Objective: To study the clinical profile of movement disorders associated with SARS-Co-V2 infection and their outcomes through a systematic review of literature. BACKGROUND: Neurological manifestations in Severe Acute Respiratory Syndrome Corona Virus2 (SARS-Co-V2) infection have been well established. Despite a small proportion of them presenting with movement disorders, they are frequently encountered in the neurology clinic due to the high prevalence of SARSCo- V2 infection itself. Many of the movement disorders have a delayed onset, by when the coronavirus disease (COVID)- related symptoms would have subsided. A systematic review of the clinical profile and outcomes of such patients would help in better diagnosis as well as prognostication of such patients. Materials and Methods: A systematic literature search of PubMed, MEDLINE, and EMBASE databases was conducted, and case reports and case series on movement disorders in coronavirus disease 2019 (COVID-19) infection, published between December 2019 and February 2022 were included. Logistic regression analysis was used to study the association between categorical and continuous variables. Results: A total of 118 patients from 73 articles were studied. Mean (SD) age was 55 (18) years. Seventy-eight percent of the patients were males. A mixed movement disorder type was most commonly seen (39.8%), in which a combination of myoclonus and ataxia was the most common (72.3%). Myoclonus significantly correlated with age (odds ratio [OR]: 1.04, P-value 0.03). Tremor had the longest mean (SD) latency period of 41.5 (32.7) days for development after the infection, whereas dystonia and chorea developed within a short latency period (mean [SD]: 0.4 [0.71] and 2.33 [5.2], respectively). Comorbidities did not influence the type of movement disorder. Myoclonus showed a significant correlation with improvement at the time of discharge (OR: 13, P-value 0.02), whereas parkinsonism and tremor negatively correlated with improvement (OR [P-value]: 0.05 [<0.001] and 0.13 [0.014], respectively]. Ataxia and opsoclonus were associated with ventilator requirement and intensive care unit (ICU) stay (ventilator requirement: ataxia OR [P-value]: 0.403 [<0.001], opsoclonus OR [P-value]: 0.213 [0.013]; ICU stay: ataxia OR [P-value]: 0.403 [<0.001], opsoclonus OR [P-value]: 0.121 [0.020]). No correlation was seen between the type of movement disorder and survival. Conclusion: Myoclonus-ataxia syndrome should prompt testing for Severe Acute Respiratory Syndrome Corona Virus2 (SARS-Co-V2) infection. There was a positive correlation between development of myoclonus and age. Chorea, dystonia, and ataxia develop within a short latency period, whereas tremor, myoclonus, and parkinsonism can develop weeks after infection. The type of movement disorder does not influence the outcome in the form of survival. [ABSTRACT FROM AUTHOR]