Annals of Indian Academy of Neurology最新文献

Progressive supranuclear palsy (PSP) has emerged as a key area of interest among researchers worldwide, including those in India, who have actively studied the disorder over the past several decades. This review meticulously explores the extensive range of Indian research on PSP up to the present and offers insights into both current initiatives and potential future directions for managing PSP within the region. Historical research contributions have spanned 80 publications from 1974 to 2023, encompassing diverse themes from clinical phenotyping and historical analysis to isolated investigative studies and therapeutic trials. Traditionally, these studies have been conducted in single centers or specific departments, involving a broad range of recruitment numbers. The most frequently encountered phenotype among these studies is PSP-Richardson's syndrome, with patients typically presenting at an average age of 64 years, alongside various other subtypes. Recently, there has been a significant shift toward more collaborative research models, moving from isolated, center-based studies to expansive, multicentric, and pan India projects. A prime example of this new approach is the PAn India Registry for PSP (PAIR-PSP) project, which represents a comprehensive effort to uniformly examine the demographic, clinical, and genetic facets of PSP across India. Looking ahead, there is a critical need for focused research on unraveling genetic insights, identifying risk factors, and developing effective treatment interventions and preventive models. Given its vast population, India's role in advancing our understanding of PSP and other tauopathies could be pivotal, and this work reflects the work on PSP in India till now.

Background and objectives: Although the motor symptoms of Wilson's disease have received particular attention from researchers and medical professionals, non-motor symptoms might become increasingly prevalent with the advancement of the disease and can even appear before the onset of motor symptoms. However, clinicopathological correlations for most of these non-motor features are still poorly understood. The correlations between non-motor and motor symptoms have been examined in this study.

Methods: Fifty patients with Wilson's disease participated in this study. Each subject was administered the Global Assessment Scale and the Non-Motor Symptom Questionnaire (NMS Quest) for the assessment of motor and non-motor symptoms, respectively. Cognitive functions were evaluated with Addenbrooke's Cognitive Examination III (Bengali version) and the Digit Span Test. Sleep-related problems were assessed with Pittsburgh Sleep Quality Index.

Results: Of the patients who participated in this study, 82%, 56%, 90%, 18%, 82%, 8%, 60%, 56%, and 66% had digestive, urinary, apathy-attention-memory, hallucinations/delusions, depression/anxiety, sexual function, cardiovascular, sleep disorder, and miscellaneous (pain, weight, swelling, sweating, and diplopia) symptoms, respectively. NMS-Digestion ( P ≤ 0.001), NMS-Urinary ( P = 0.007), NMS-Miscellany ( P = 0.001), NMS-Memory (0.011), and NMS-Sleep Disorder ( P = 0.031) significantly predicted parkinsonism. NMS-Digestion was a significant predictor of dystonia ( P < 0.001).

Conclusion: Awareness regarding non-motor symptoms and their associations with motor symptoms might help physicians develop more efficient treatment regimens that can alleviate non-motor symptoms which can be equally troublesome and disabling for these patients. Management of non-motor symptoms is crucial for the overall well-being of these patients.

Background and objectives: Reversible cerebral vasoconstriction syndrome (RCVS) is a rare cause of stroke characterized by headache, seizures, focal deficits, or encephalopathy. Very little is known about this rare condition from the Indian subcontinent. Here, we present the clinical and imaging characteristics and short-term outcomes of RCVS patients from South India.

Methods: A single-center retrospective study of all consecutive subjects with a clinical-radiological diagnosis of RCVS from January 2014 to December 2023 with a 3-month completed follow-up was conducted. The clinical features, vascular imaging patterns, and outcomes of patients with ischemic and hemorrhagic forms of RCVS were compared.

Results: Of the 22 patients who fulfilled Calabrese et al.'s criteria for RCVS, the majority were women with a mean age of 47.59 (±13.55) years. While headache was the most common presenting symptom in our cohort (18/22, 81.81%), 14/22 (63.6%) developed focal neurologic deficits during the course of illness. Four of 22 patients (18%) did not report headaches during the course of illness. The most common imaging finding at presentation was cortical subarachnoid hemorrhage (SAH) in 9/22 (40.9%), followed by infarcts in 6/22, (27.2%), while 12/22 (54.5%) patients developed new ischemic lesions on repeat imaging. Ischemic and hemorrhagic presentations of RCVS did not differ in terms of clinical presentation or outcome. All patients with ischemic lesions showed diffuse vasospasm on imaging, while those with SAH had both diffuse and focal vascular abnormalities.

Conclusions: We present the largest single series of RCVS from India, with a favorable short-term outcome. Although the most common vascular abnormality is diffuse vasospasm, it can remain focal in a quarter of patients.

Paroxysmal sympathetic hyperactivity (PSH) is a less-known neurologic emergency that can be life-threatening. It is a form of extreme autonomic dysregulation leading to multiple episodes of sympathetic hyperactivity. The pathogenesis of this interesting entity is yet to be fully understood. It presents as unexplained tachycardia, hypertension, and sometimes hyperthermia. Poor awareness of this fact leads to unnecessary workup to look for the cause of fever and interventions such as change of antibiotics. If it is not treated adequately, it can even cause complications like arrhythmias that can be fatal at times. PSH secondary to acquired brain injury is better known in adults, but there are scarce reports in children. We describe six cases of PSH in children with acquired brain injury - four secondary to traumatic brain injury and two secondary to neurologic infection (one with bacterial meningitis and the other one with viral meningoencephalitis). PSH can be seen in non-traumatic brain injury cases like meningitis. Due to a lack of awareness about this common but under-recognized entity, it is seldom diagnosed and treated. Early detection and treatment can be life-saving and improve patient outcomes. Earlier onset may be associated with poorer outcomes and mortality.

Spastic ataxic syndrome is a combination of cerebellar ataxia with spasticity and other pyramidal features. Common causes of spastic ataxic syndrome include spinocerebellar ataxia (SCA) 1, SCA2, autosomal recessive ataxia of Charlevoix-Saguenay, Friedreich ataxia, and hereditary spastic paraplegia type-7. We report a 32-year-old female who presented with unsteadiness of gait, incoordination, and tremulousness of both hands for 10 years with microphthalmia, microdontia, dental caries, and syndactyly. Magnetic resonance imaging of the brain showed T2 fluid-attenuated inversion recovery hyper intensities in periventricular and lobar white matter and internal capsule. Thus, we report a genetically confirmed oculodentodigital dysplasia (ODDD), an autosomal dominant disorder, in an Indian patient who presented with spastic ataxic syndrome, a rarity that has not been reported so far.

Background and objectives: There is paucity of studies on long-term remission of autoimmune generalized myasthenia gravis (MG) from Southeast Asia. We report the outcome predictors of generalized MG and also evaluate the influence of high- versus low-dose prednisolone and prednisolone with or without azathioprine (AZA).

Methods: Fifty-seven patients with generalized MG were included, who completed 2 years of follow-up. Demographic information, comorbidities, Myasthenia Gravis Foundation of America (MGFA) class at baseline and follow-up, acetylcholine receptor (AChR) and muscle-specific kinase antibodies, decremental response, thymectomy, and treatments were recorded. Maximum doses of prednisolone, AZA, and acetylcholinesterase inhibitors were noted. The predictors of MGFA 0 at 3 and 6 months and minimal manifestation (MM) status at 2 years were evaluated.

Results: MGFA 0 was achieved by 27 (47.4%) patients at 3 months, 35 (61.4%) patients at 6 months, and 46 (80.7%) patients at 12 months. At 2 years, 48 (84.2%) patients achieved the MM status and none achieved complete stable or pharmacologic remission. On multivariate analysis, AChR antibody titer (adjusted odds ratio [AOR] 1.08, 95% confidence interval [CI] 1.006-1.167; P = 0.03) and MG activity of daily living (MGADL) at 6 months (AOR 1.28, 95% CI 1.066-1.558; P = 0.01) predicted the MM status. Maximum dose of prednisolone and adjunctive AZA did not predict the MM status.

Conclusions: About 84.2% of patients with generalized MG, especially those with a low AChR antibody titer and MGADL < 4 at 6 months, achieved the MM status at 2 years.

Symptomatic carotid disease, characterized by atherosclerotic or non-atherosclerotic internal carotid artery disease with ipsilateral stroke symptoms, represents a critical condition in stroke neurology. This "hot carotid" state carries a high risk of stroke recurrence, with almost one-fourth of the patients experiencing recurrent ischemic events within 2 weeks of initial presentation. The global prevalence of significant carotid stenosis (conventionally defined as ≥50% narrowing) is estimated at around 1.8% in men and 1.2% in women and increases with age. Management of symptomatic carotid disease remains challenging, requiring a balance between urgent medical and surgical interventions and their associated risks. Current treatment approaches combine medical management, focusing on optimal antithrombotic therapy, with revascularization procedures such as carotid endarterectomy or carotid artery stenting. However, decision making has evolved beyond considering stenosis degree alone, now incorporating advanced imaging data on plaque composition and intraluminal characteristics. Even though there are numerous randomized trials, uncertainties persist regarding optimal management, particularly in light of improved medical therapies and emerging concepts like symptomatic non-stenotic carotid disease. Future research directions include exploring newer antithrombotic regimens, refining patient selection criteria for revascularization, and evaluating novel techniques like transcarotid artery revascularization.

Kikuchi-Fujimoto disease (KFD) is a rare benign condition associated with fever and lymphadenopathy and was first described by Kikuchi and Fujimoto independently in 1972 as histiocytic necrotizing lymphadenitis. The diagnosis is made by histopathology with immunohistochemistry. Limbic encephalitis is an extremely rare presentation of this uncommon disease, which has been described mainly in children. Available evidence is sparse in the form of case reports and case series in the form of 10 cases published till date. We report a case of an adult female with KFD with autoimmune limbic encephalitis, who had complete clinical and radiologic recovery with treatment, and a literature review of all the cases published till date.