Spectrum of Movement Disorders of Late-Onset Niemann-Pick Disease Type C.

Niemann-Pick disease type C (NPC), is a rare lysosomal storage disorder, which has a variable presentation based on the age of onset. We describe five adult/adolescent-onset NPC cases presenting with a range of movement disorders along with vertical supranuclear gaze palsy as part of the clinical presentation. A diagnostic delay of 4-17 years from the symptom onset was found in this case series. A high index of clinical suspicion in adult/adolescent patients presenting with vertical supranuclear gaze palsy along with various movement disorder phenomenology can help in the early diagnosis of NPC.

Cerebral venous thrombosis: an unanticipated consequence of unilateral internal jugular vein ligation.

Retrograde cerebral venous thrombosis (CVT) is a rare complication following internal jugular vein (IJV) ligation. The patient described in this report is a male in his 30s with locally advanced carcinoma tongue. He underwent near-total glossectomy and bilateral neck dissection. Due to heavy nodal burden, his right IJV had to be sacrificed. The patient presented with features of raised intracranial pressure (ICP) postoperatively. Magnetic resonance venogram of the brain revealed CVT involving sigmoid and transverse sinus. This case report describes a perplexing case of right-sided IJV ligation giving rise to CVT, resulting in raised ICP. Although the contralateral cerebral venous system was found to be normal, it failed to compensate for the obstructed outflow on the affected side. In this case report, we have elucidated the possible mechanism for the development of raised ICP and described the management in the light of existing evidence.

Exercise for improving bone health in patients with AIRDs: Understanding underlying biology and physiology.

Exercise has numerous health benefits in patients with autoimmune inflammatory rheumatic diseases (AIRDs). Regular physical activity can help maintain/improve bone health. The aim of the present article was to review current knowledge on the effects of exercise on bone health in patients with AIRDs, particularly in those experiencing a high corticosteroid burden. The article also aimed to discuss potential mechanisms underlying the benefits of physical activity/exercise on bone tissue. Potential explanations regarding the role of exercise on bone health in AIRDs include anti-inflammatory effects, mechanical loading, improvement in muscle strength, hormonal changes, improvement in balance, and effects on telomere erosion, deoxyribonucleic acid methylation, and gene expression. Current evidence regarding the outcomes of exercise on bone health in patients with AIRDs is predominantly derived from studies focused on rheumatoid arthritis. Expanding research to include other rheumatic conditions would enhance the overall understanding of this topic.

Emerging Trends in Stroke Epidemiology in Indian Women Over the Last Decade.

Background and Objective: Temporal trends in clinico-epidemiological parameters of stroke among Indian women have not been studied. We aimed to study the changes in these parameters over the last decade. Material and Methods: 417 strokes (ischemic/hemorrhagic) were prospectively recruited in two timelines. In total, 267 strokes were recruited in 2005 while 150 strokes were recruited in 2016-17. Patients underwent stepwise evaluation via a structured proforma. Demographic factors, stroke subtypes, and risk factors were analyzed. Results: Female strokes had a higher mean age in 2017 compared to 2005 (60.90 ± 16.9 vs. 53.21 ± 16.75 years, P = 0.002). Hemorrhagic strokes among females increased over the last decade. Female strokes with dyslipidemia were significantly lower in 2017 compared to 2005 (P = 0.002). Proportion of hypertensive and diabetic strokes were not significantly different between these two periods. Conclusions: Over the past decade, the mean age of stroke onset has increased while the prevalence of dyslipidemia has reduced significantly among Indian female stroke patients.

Vanishing White Matter Disease Presenting as Dementia and Infertility: A Case Report.

Objectives: Vanishing white matter (VWM), an inherited leukoencephalopathy affecting the brain and the spinal cord, is most often a childhood-onset progressive disorder, generally presenting with ataxia. The adult-onset VWM is relatively rare with slowly progressive cognitive dysfunction dominating the clinical presentation. We report a case of adult-onset VWM from the Indian subcontinent. Methods: Exome sequencing. Results: A 58-year-old woman with young-onset diabetes and hypertension presented with gradually progressive cognitive decline beginning at age 40 years. She had early and predominant executive dysfunction and emotional lability and late involvement of memory and navigation. In addition to cognitive dysfunction, the patient experienced bladder and bowel incontinence along with a spastic gait. She also had primary infertility and menopause at age 40 years. Two of the patient's sisters had primary infertility; one of them had urine and stool incontinence along with gait disturbance. An MRI examination of the brain showed diffuse, symmetrical T2/fluid-attenuated inversion recovery white matter hyperintensities. On genetic testing, the patient was found to be homozygous for c.687T>G variation in the EIF2B3 gene. Discussion: Adult-onset VWM is rare. Infertility in an adult patient with progressive cognitive decline should raise a suspicion of VWM.

The Impact of COVID-19 Pandemic on Disease Severity and Quality of Life in Parkinson's Disease.

BACKGROUND: The challenges being faced during the lockdown period may worsen motor or non-motor symptoms in Parkinson's disease (PD). OBJECTIVE: This study was undertaken to investigate the impact of lockdown on the disease activity, caregiver perceptions and the quality of life of patients with PD. MATERIALS AND METHODS: This cross-sectional study was conducted from June till September 2020. Sixty-four patients with PD and caregivers were interviewed telephonically after obtaining consent. The responses were recorded by means of a structured questionnaire. Non-motor symptoms scale (NMSS) and the Parkinson Disease Questinnaire-8 (PDQ-8) were applied. PDQ-8 severity index (PDQ-8 SI) scores were expressed as percentage of the raw PDQ-8 score of the total score. Data were analsyed by using SPSS version 20.0. RESULTS: Of 64 patients, 39 (60.9%) were men and 25 (39.1%) were women. The overall median age of the patients was 65 (55.25-69.75) years. The median duration was 48 (30-84) months. Twenty-six (40.6%) patients reported symptomatic worsening during the lockdown period. Slowness in activities of daily living and walking worsened in 15 (57.7%) and 14 (53.8%) patients, respectively, while tremors increased in 12 (46.2%) patients. Mood and sleep disturbances were the most common non-motor symptoms to worsen. Increase in non-motor symptoms and the NMSS total score were independent predictors of PDQ-8 scores. Increase in non-motor symptoms during the lockdown was an independent predictor of the highest quartile of PDQ-8 SI scores. CONCLUSIONS: Motor and non-motor symptoms have worsened in patients with PD during the lockdown. The increase in non-motor symptoms was independently associated with poorer quality of life among patients with PD during the lockdown.

Teleneurorehabilitation Among Person with Parkinson's Disease in India: The Initial Experience and Barriers to Implementation.

OBJECTIVE: We aimed to assess the feasibility of teleneurorehabilitation (TNR) among persons with Parkinson's disease (PD), considering difficulties imposed by the COVID-19 pandemic in access to healthcare, particularly in low-resource settings. The feasibility of TNR in India has not been formally assessed so far. METHODS: We conducted a single-center, prospective cohort study at a tertiary center in India. Persons with PD with Hoehn & Yahr (H&Y) stages 1-2.5, who were not enrolled into any formal exercise program, were offered TNR as per a predesigned program for 12 weeks. Baseline and post-intervention assessment included Movement Disorders Society-Unified Parkinson's Disease Rating Scale (MDS-UPDRS), part II and III, Parkinson's Disease Questionnaire (PDQ)-8 and Non-Motor Symptoms Scale (NMSS). We assessed adherence to TNR and problems expressed by patients/caregivers by means of open-ended surveys addressing barriers to rehabilitation. RESULTS: We recruited 22 for TNR. Median age (interquartile range [IQR]) was 66.0 (44.0-71.0) years; 66.7% were H&Y stage 2.0. One patient died of COVID-19-related complications. Of the remaining 21, 14 (66.7%) had adherence of ≥75%; 16/21 (76.2%) patients had problems with attending TNR sessions as the family shared a single phone. Slow Internet speed was an issue among 13/21 (61.9%) of the patients. Other issues included lack of rapport, migration to distant hometowns and motor-hand impairment. CONCLUSION: Multiple challenges were faced in implementing a telerehabilitation program among persons with PD, exacerbated by the COVID-19 pandemic. These barriers were present at various levels: recruitment, adherence issues and maintenance. Future TNR programs must address these concerns.

Does an additional virtual interactive session increase the impact of digital educational material given to epilepsy patients? A randomized controlled trial.

PURPOSE: To study if an additional virtual interactive epilepsy education session improves post-test epilepsy knowledge scores more than providing digital educational material alone in persons with epilepsy (PWE) and caregivers. METHODS: In a single centre, open labelled, randomised controlled trial, PWE and caregivers were randomised to receive digital epilepsy educational material alone or an additional virtual interactive epilepsy session along with the digital educational material. Pre-test knowledge scores were compared with post-test knowledge scores. A difference between the post-test scores in the two arms was the primary outcome. This was assessed one week after the epilepsy education had been received. Secondary outcomes were the difference between the two arms in quality of life and breakthrough seizure frequencies at the end of one month. RESULTS: A total of 130 participants (PWE+caregivers) were randomised of which 66 were in the control arm and 64 in the intervention arm. Baseline demographic and epilepsy characteristics were comparable in both arms except for the higher age of PWE in the intervention arm. Post-test knowledge scores improved significantly from the pre-test knowledge scores in both control and intervention arms (p<0.001). Post-test knowledge scores in the intervention arm were significantly better both for patients (p = 0.003) as well as for caregivers (p = 0.007) compared to controls. There was no difference in the quality of life and frequency of breakthrough seizures between the two arms. CONCLUSION: Digital educational material is effective in improving post-test epilepsy knowledge scores in PWE and caregivers. Knowledge scores can be further improved by an additional virtual interactive session.

Seizures and Epilepsy in Times of Corona Virus Disease 2019 Pandemic.

The end of the year 2019 was marked by novel coronavirus (severe acute respiratory syndrome coronavirus-2, SARS-CoV-2) outbreak in China that rapidly spread to the rest of the world. While the involvement of the lower respiratory system causing pneumonia is identified as the primary target of the virus, extra-pulmonary manifestations, especially of the central nervous system, are also being increasingly reported. Previous research on Middle East respiratory syndrome coronavirus and SARS-CoV have shown neurological involvement in human coronavirus infections. While several cases of seizures have been reported in patients with coronavirus disease 2019 (COVID-19) patients, there is no specific data to suggest an association of COVID-19 with epilepsy. Epilepsy patients on immunosuppressive medications may have a higher risk of contracting the viral infection. There can be an indirect relation of COVID-19 to epilepsy as the viral infection is associated with fever in most COVID-19 cases, which can lower seizure threshold. Additionally, inadequate sleep and stress due to ongoing pandemic of coronavirus can be another trigger for seizure precipitation in epilepsy patients. Drug compliance, availability of antiepileptic drugs, and drug interactions with COVID-19 experimental drugs are major concerns in epilepsy patients. Adopting telemedicine services and the use of epilepsy helplines may be important in assisting epilepsy patients and ensuring that treatment continues uninterrupted.

Role of Neuromodulation for Treatment of Drug-Resistant Epilepsy.

The choice of neuromodulation techniques has greatly increased over the past two decades. While vagal nerve stimulation (VNS) has become established, newer variations of VNS have been introduced. Following the SANTE's trial, deep brain stimulation (DBS) is now approved for clinical use. In addition, responsive neurostimulation (RNS) has provided exciting new opportunities for treatment of drug-resistant epilepsy. While neuromodulation mostly offers only a 'palliative' measure, it still provides a significant reduction of frequency and intensity of epilepsy. We provide an overview of all the techniques of neuromodulation which are available, along with long-term outcomes. Further research is required to delineate the exact mechanism of action, the indications and the stimulation parameters to extract the maximum clinical benefit from these techniques.

Seizure-related injuries in inadequately treated epilepsy patients: A case-control study.

PURPOSE: To compare epilepsy-related injuries in untreated or inadequately treated patients and patients on adequate treatment. METHODS: In a cross-sectional case-control study, seizure-related injuries in patients who were either on no treatment or inadequate treatment were compared with another group of patients receiving appropriate evidence-based epilepsy treatment. The inadequately treated patients or 'cases' were drawn from an outreach epilepsy clinic while the adequately treated patients or 'controls' were recruited from a tertiary care facility providing comprehensive epilepsy management. RESULTS: The odds of injury were eight times higher in inadequately treated patients or cases compared to the adequately treated patients or controls. After adjusting for gender, epilepsy duration, seizure frequency, current medication, and number of AEDs, the odds of injury were 15. 8 times higher in the cases. Major injuries such as burns, fractures, and tooth injuries were also higher in the cases. CONCLUSION: Untreated or inadequately treated epilepsy patients have a significantly higher risk of injuries. With adequate treatment, some of the risks of injury can be mitigated.