Achal Kumar Srivastava

• MD, DM
• Professor (Full) at All India Institute of Medical Sciences

Human immunodeficiency virus (HIV) associated motor neuron disease (MND) is very rare. HIV infection can cause an MND-like syndrome due to central nervous system (CNS) involvement de novo or during antiretroviral therapy (ART) due to CNS escape. We present two cases: one with a classic amyotrophic lateral sclerosis (ALS) phenotype, which was the ma...

The aim of the study was to assess whether SMS reminders to patients on Vit K antagonists(VKA) improved adherence to INR testing as compared to clinic based follow up. The study was a parallel group randomized open label single center study carried out at a tertiary care hospital in North India from Oct 2018 to Nov 2019. The interventional arm rece...

Background Genomic variations associated with dystonia in Asian Indians remain largely unknown. Objectives To identify genomic alterations associated with dystonia in the Asian Indian population using next generation sequencing approaches. Methods From September 2018 to December 2023, we enrolled 745 individuals including probands with dystonia a...

Autonomic function is an integral part of the assessment of neurological disorders. However, pragmatically, it is often the most neglected part of neurological examination and is often limited to testing for orthostatic hypotension. Testing the autonomic nervous system may aid in the early diagnosis of neurodegenerative disorders, thereby enabling...

A 50-year-old male patient presented with a 10-year history of progressive cerebellar ataxia, multifocal dystonia with dystonic tremors, and oculomotor abnormalities including bilateral ptosis, slow saccades, and reduced range of ocular movements. There were no signs of cognitive impairment, parkinsonism, autonomic dysfunction, or muscle weakness,...

Gerstmann-Sträussler-Scheinker disease (GSSD) is a hereditary prion disease characterized by rapidly progressive dementia with cerebellar ataxia.1 GSSD is caused by a prion protein (PRPN) gene mutation on chromosome 20 causing deposition of PrP-immunoreactive amyloid in the cerebral and cerebellar cortices and basal ganglia.2 It is the rarest of th...

The field of movement disorders (MDs) has seen remarkable advancements driven by genetic research, leading to significant improvement in both diagnostics and therapeutics. These advancements are primarily due to the development and implementation of high-throughput genetic technologies and a deeper understanding of the genetic basis of these disord...

Autoimmune autonomic disorders encompass a spectrum of disorders mediated by immune responses directed against the autonomic nervous system, including the peripheral and central autonomic pathways. While centrally mediated autoimmune autonomic disorders primarily can cause autonomic hyperactivity, peripherally mediated disorders are more common and...

Background:Kernicterus is the long-term manifestation of acute bilirubin encephalopathy, and it includes a tetrad of clinical characteristics that appear after one year of age. This tetrad includes abnormal motor control, hearing loss, impairment of upward vertical gaze and dental enamel dysplasia. Kernicterus results in a subtype of cerebral palsy...

Restless legs syndrome (RLS), also called Willis–Ekbom disease (WED), affects approximately 3% of the global population, with higher incidence in Caucasians and women. This review explores the latest advancements in the diagnosis, pathophysiology, and management of RLS, and it highlights the recent changes in diagnostic criteria that improve specif...

Paraneoplastic neurologic syndromes are cancer‑associated, immune‑mediated neurologic manifestations that may involve any part of the nervous system. They usually present with characteristic neurologic features and should be considered in high‑risk phenotypes such as limbic encephalitis, encephalomyelitis, rapidly progressive cerebellar syndrome, o...

Background The ethnic diversity of India provides a unique opportunity to study the history of the origin of mutations of genetic disorders. Spinocerebellar ataxia type 27B (SCA27B), a recently identified dominantly inherited cerebellar disorder is caused by GAA-repeat expansions in intron 1 of Fibroblast Growth Factor 14 (FGF14). Predominantly rep...

Juvenile Parkinsonism and Cognitive Impairment in a Patient with Compound Heterozygous Variants in the BTD Gene- an Unusual Presentation of Biotinidase Deficiency

Spinocerebellar ataxia type 12 is a hereditary and neurodegenerative illness commonly found in India. However, there is no established noninvasive automatic diagnostic system for its diagnosis and identification of imaging biomarkers. This work proposes a novel four-phase machine learning–based diagnostic framework to find spinocerebellar ataxia ty...

Auditory and visual cues have been efficacious in laboratory-based freezing of gait (FoG) mitigation in Parkinson's disease (PD). However, real-life applications of these cues are restricted due to inconvenience to the users. Closed-loop vibrotactile cues based on temporal gait events have overcome the shortcomings of auditory and visual cueing. Ho...

Background: Neuropsychological Rehabilitation (NR) helps manage cognitive deficits in epilepsy. As interna- tionally developed programs have limited applicability to resource-limited countries, we developed a program to bridge this gap. This 6-week caregiver-assisted, culturally suitable program has components of (1) psycho- education, (2) compensa...

DRPLA is a rare genetic disorder with its greater frequency observed in Japan and other Asian and European countries. Adults: cerebellar ataxia, choreoathetosis, and dementia Juvenile-onset cases: myoclonic epilepsy, cerebellar ataxia, and variable degree of mental retardation First generation of Indian family with DRPLA which is an extremely rare...

Episodic ataxias (EAs) are a group of autosomal dominant disorders characterized by paroxysmal attacks of ataxia. EA type 2 usually has an adolescent onset with interictal nystagmus. Whereas, inter-ictal myokymia is usually a feature of EA type 1. Here we present a rare case of genetically proven EA type 2 with late age of onset and interictal orom...

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Stroke is the second leading cause of death and a major cause of disability worldwide. Stroke severity scales serve as reliable means to track a patient’s neurological deficit, predict outcome, and guide treatment decisions in clinical practice. The National Institute of Health Stroke Scale (NIHSS) was introduced over 30 years ago, marking a signif...

Introduction: Corticosteroids are used as adjunctive treatment in tuberculous meningitis (TBM). However, there is no universally accepted regimen, type, duration, or route of steroid administration. Methodology: In a randomized open labelled pilot study, TBM patients were divided into overlap oral dexamethasone (OOD) and direct oral dexamethasone (...

1) Sensory ataxia should be identified, look for signs of pseudo-athetosis 2) Evaluation of sensory ataxia should also include screen for paraneoplastic syndrome particularly in elderly male 3) Sensory ataxia + cerebellar ataxia + neuropathy (motor) should prompt for paraneoplastic clinical phenotype 4) PNS care score may be useful for PN syndro...

Introduction Symptoms of obstructive sleep apnea (OSA) and poor sleep quality affect around one in ten people in India. We aimed to determine if OSA symptoms and poor sleep quality are independently associated with cognition in middle-aged and elderly urban Indian populations. Methods We studied the cross-sectional association between OSA symptoms...

Background and aims Complications of Tuberculous Meningitis (TBM) include hydrocephalus, vasculitis infarcts, arachnoiditis (optico-chiasmatic and spinal), and increase in size/number of tuberculomas. We aimed to study the association of these complications with morbidity and mortality trend over their follow up period of nine months. Methods The...

Background and aims Despite advances in anti-tubercular treatment (ATT), the mortality of central nervous system tuberculosis (CNSTB) is upto 20%. The determinants of poor outcome and mortality have been studied in small single center studies. We aimed to study a multicentric cohort of CNS tubercular mass lesions in an ambispective cohort design to...

Wilson's disease (WD) is an autosomal recessive disease caused by mutations in the ATP7B gene on chromosome 13q. The clinical manifestations of WD are varied and occur due to copper accumulation in organs such as the liver and brain. Although there are various laboratory findings and radiological signs suggestive of WD, they are non-specific and ca...

Background The merits of classifying the heterogeneous group of essential tremors into essential tremor (ET) and essential tremor plus (ETP) is 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 patient...

Background Seizure freedom without deficits is the primary goal for epilepsy surgery. However, patients with medically refractory epilepsy commonly suffer from many co-morbidities related to mood, cognition, and sleep as well as social problems and resultant stigma. While epilepsy surgery literature does describe quality of life (QOL) and neuropsyc...

An intronic bi-allelic pentanucleotide repeat expansion mutation, (AAGGG)400–2000, at AAAAG repeat locus in RFC1 gene, is known as underlying genetic cause in cases with cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) and late-onset sporadic ataxia. Biallelic positive cases carry a common recessive risk haplotype, “AAGA,”...

Spinocerebellar ataxia type 12 (SCA12) is a neurogenetic disease, marked with prominent action tremors in the upper limbs. Neuroimaging techniques like magnetic resonance imaging (MRI) are used by doctors to find the affected areas of SCA12 disease. In literature, most of the research work have used 2D-feature extraction methods, which do not consi...

Background COVID-19 infection is associated with neurological manifestations, including various types of movement disorders (MD). A thorough review of individual patients with COVID-19-induced MD would help in better understanding the clinical profile and outcome of these patients and in prognostication. Objective We conducted an individual patien...

Neurological involvement in sarcoidosis is termed as neurosarcoidosis. It usually leads to cranial neuropathies, although it can involve any part of the neuroaxis. Although sarcoidosis is a proinflammatory state, there is an associated anergic state demonstrable by a feeble tuberculin response. Lymphocytic sequestration in granulomas can be associa...

Objective: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder. Prognostication remains sub-optimally defined. We aimed to assess clinical determinants of disease progression rates in Indian patients with ALS and to assess the role of vascular endothelial growth factor (VEGF) in disease progression. Methods: In this cross-section...

Background and aims: Early neurological deterioration (END) in acute ischemic stroke (AIS), patients is defined as clinical worsening or recurrence during first 72 h after onset of AIS. We have conducted this study to determine the association between END and functional outcome at 3 months of onset of AIS along with associated risk factors of END...

Objective: To report a case of TARDBP mutation presenting as major neurocognitive disorder associated with visual hallucinations, myoclonus, visuospatial disorientation and poorly L-dopa responsive Parkinsonism. Background: A 51-year-old lady presented with asymmetric tremor and rigidity involving the right upper and lower limbs associated with br...

Background and aims: To describe three interesting cases of delayed Perihematomal edema (PHE) in patients with spontaneous intracerebral haemorrhage (sICH) a rare complication of sICH. Published literature shows that delayed PHE can occur up to 4 weeks after sICH. No evidence of delayed PHE after 6weeks of onset of sICH as described in one of the c...

Most drugs used in the treatment of Tuberculous Meningitis have limited CNS penetration thereby limiting efficacy. CSF penetration of linezolid is 80-100%.The study was a prospective, randomized, open label with blinded outcome assessment pilot trial carried out in patients with TBM. Patients were randomized in a 1:1 ratio into two treatment groups...

Background and Objectives: An intronic bi-allelic pentanucleotide repeat expansion mutation, (AAGGG)400-2000 at AAAAG repeat locus in RFC1 gene is known as underlying genetic cause in cases with cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) and late onset sporadic ataxia. Biallelic positive cases carry a common recessive...

Background Neuropathic Tremor (NT) is a postural/kinetic tremor of the upper extremity, often encountered in patients with chronic neuropathies such as paraprotein‐associated and hereditary neuropathies. Objectives To describe the clinical and electrophysiological features of NT in a previously underrecognized setting‐ during recovery from Guillai...

The study assessed changes in brain tissue microstructures in SCA type 1, 2 and 12 patients using diffusion tensor imaging. Our findings exhibited widespread reduced fractional anisotropy (FA), increased radial (RD) and axial diffusivity (AD) in SCA with respect to that in healthy subjects. FA was decreased in SCA1 and SCA2 in the superior and infe...

Background and Aims: An early prediction of functional outcome in stroke is critical to improve patient care. We aimed to determine prognostic biomarkers to predict 90-day and 180-day poor outcome and mortality after ischemic stroke (IS) and intracerebral hemorrhage (ICH). Methods: We collected serum samples from stroke patients within 24 hours of...

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 t...