Background As the health systems around the world struggled to meet the challenges of COVID-19 pandemic, care of many non-COVID emergencies was affected. Aims The present study examined differences in the diagnosis, evaluation and management of stroke patients during a defined period in the ongoing pandemic in 2020 when compared to a similar epoch in year 2019. Methods The COVID stroke study group (CSSG) India, included 18 stroke centres spread across the country. Data was collected prospectively between February and July 2020 and retrospectively for the same period in 2019. Details of demographics, stroke evaluation, treatment, in-hospital and three months outcomes were collected and compared between these two time points. Results A total of 2549 patients were seen in both study periods; 1237 patients (48.53%) in 2019 and 1312 (51.47%) in 2020. Although the overall number of stroke patients and rates of thrombolysis were comparable, a significant decline was observed in the month of April 2020, during the initial period of the pandemic and lockdown. Endovascular treatment reduced significantly and longer door to needle and CT to needle times were observed in 2020. Although mortality was higher in 2020, proportion of patients with good outcome were similar in both the study periods. Conclusions Although stroke admissions and rates of thrombolysis were comparable, some work flow metrics were delayed, endovascular stroke treatment rates declined and mortality was higher during the pandemic study period. Reorganization of stroke treatment pathways during the pandemic has likely improved the stroke care delivery across the globe.

Cerebrotendinous xanthomatosis is an autosomal recessive inborn error of metabolism that is an often missed but treatable cause of hereditary ataxia. We report a case of cerebrotendinous xanthomatosis (CTX) that was diagnosed only after the development of cognitive decline and adult onset ataxia in a 35-year-old man. He had poor scholastic performance in childhood followed by gradually progressive cognitive decline. He presented to us with severe cerebellar ataxia and oculomotor apraxia. The key features that led to the diagnosis of CTX were the history of cataracts in childhood and Achilles tendon xanthoma. His brain magnetic resonance imaging showed characteristic features of CTX, and the diagnosis was confirmed by demonstrating the mutation in exon 2 of the CYP27A1 gene. The recognition of CTX earlier could have prevented his significant disabilities. The definitive treatment is oral chenodeoxycholic acid, which will prevent the accumulation of the cholestanol, which is thought to be responsible for the neurotoxicity.

Background and Purpose: Occurrence of stroke has been reported among patients with COVID-19. The present study compares clinical features and outcomes of stroke patients with and without COVID-19. Methods: The COVID-19 Stroke Study Group (CSSG) is a multicentric study in 18 sites across India to observe and compare the clinical characteristics of patients with stroke admitted during the current pandemic period and a similar epoch in 2019. The present study reports patients of stroke with and without COVID-19 (CoVS and non-CoVS, respectively) seen between February 2020 and July 2020. Demographic, clinical, treatment, and outcome details of patients were collected. Results: The mean age and gender were comparable between the two groups. CoVS patients had higher stroke severity and extent of cerebral involvement on imaging. In-hospital complications and death were higher among CoVS patients (53.06% vs. 17.51%; P < 0.001) and (42.31% vs. 7.6%; P < 0.001), respectively. At 3 months, higher mortality was observed among CoVS patients (67.65% vs. 13.43%; P < 0.001) and good outcome (modified Rankin score [mRS]: 0–2) was seen more often in non-CoVS patients (68.86% vs. 33.33%; P < 0.001). The presence of COVID-19 and baseline stroke severity were independent predictors of mortality. Conclusions: CoVS is associated with higher severity, poor outcome, and increased mortality. Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection and baseline stroke severity are independent predictors of mortality.

Introduction:The unprecedented challenges during the COVID pandemic and the subsequent lockdown had resulted in a delay in treatment metrics for acute stroke. There is a rising concern that COVID-19 co-infection can adversely affect stroke outcome. We aim to investigate the impact of COVID-19 in the management of stroke patients. We also compared the differences in stroke manifestations, etiological pattern, treatment course, and outcome of acute stroke patients in COVID-19 confirmed cases.Methodology:A single-center retrospective study was done at the Stroke Unit, Government Medical College, Thiruvananthapuram. Consecutive patients of acute stroke confirmed by imaging, presenting within 24 hours of the onset of symptoms in May to July 2020 and May to July 2019, were included. The primary data variables included baseline demographics, risk factors, admission NIHSS, stroke timings, thrombolysis rate, TOAST etiology, mRS at discharge, and in-hospital mortality.Results:Strokes with higher NIHSS, arrival blood sugar and blood pressure, and delays in door-to-CT and door-to-needle time were more during the pandemic. Intravenous thrombolysis was less and mortality was higher in COVID-19 strokes during the pandemic. COVID-19-positive stroke patients had more hemorrhagic strokes, more severe strokes with low CT ASPECTS, more hemorrhagic transformation, high in-hospital mortality, and poor functional outcome at discharge and 3 months.Conclusion:Our study was a hypothesis-generating study with a limited number of patients. This study has reconfirmed the higher severity of the stroke, with a higher mRS score and mortality during the pandemic, especially among COVID-19-positive stroke patients.

Results 82 dopa decarboxylase (DDC) variants causing AADC deficiency were identified for all 123 known patients. Biochemical and bioinformatics studies provided insight into the impact of many mutations. c.714+4ANT, p.S250F, p.R347Q, and p.G102S are the most frequent variants (cumulative allele frequency=57%), and c.[714 +4ANT];[714+4ANT], p.[S250F];[S250F], and p.[G102S];[G102S] are the most frequent genotypes (cumulative genotype fre-quency=40%). Known or predicted molecular effect was defined for 79/82 variants. Based on genomic DNA sequence databases and abnormal CSF profiles in US patients, estimated prevalence of AADC deficiency is 1/42,000 newborns. Most patients experience an unrelenting disease course with poor or no response to dopamine agonists, monoamine oxidase inhibitors, and pyridoxine derivatives. Gene therapy is a promising new treatment. Clinical studies of intraputaminal infusion of engineered adeno-associated virus type 2 vectors have demonstrated acceptable safety and tolerability and improved motor milestones and cognitive symptoms. Conclusions Success of gene therapy in AADC deficiency will depend on timely diagnosis to facilitate treatment before onset of irreversible neurologic damage. Screening for the 3-O-methyl-dopa biomarker in dried blood spots may enable early diagnosis.