American Board of Psychiatry and Neurology (Neurology)
Professional History
Dr. Sharma is a clinician scientist specializing in movement disorders, with a special expertise in dystonia. Dr. Sharma provides diagnostic evaluation and treatment for children with movement disorders.
Approach to Care
I am focused on understanding the causes of brain-driven movement disorders, across the lifespan. I work in close collaboration with my basic science colleagues to understand the genetics underlying movement disorders and the way in which the brain controls movement.
Publications
Globally Reduced Brain Volume in Rett Syndrome. View Abstract
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. View Abstract
Non-invasive detection of allele-specific CRISPR-SaCas9-KKH disruption of TOR1A DYT1 allele in a xenograft mouse model. View Abstract
Sex Differences in Natural History and Health Outcomes Among Individuals With Tic Disorders. View Abstract
Efficacy and Safety of Sodium Oxybate in Isolated Focal Laryngeal Dystonia: A Phase IIb Double-Blind Placebo-Controlled Cross-Over Randomized Clinical Trial. View Abstract
Dysphagia is a risk factor of malnutrition in X-linked Dystonia-Parkinsonism. View Abstract
Genetic Risk Factors in Isolated Dystonia Escape Genome-Wide Association Studies. View Abstract
Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosis. View Abstract
Motor assessment of X-linked dystonia parkinsonism via machine-learning-based analysis of wearable sensor data. View Abstract
The Challenge of Examining Social Determinants of Health in People Living With Tourette Syndrome. View Abstract
Sex Differences in People with Tourette Syndrome and Persistent Motor or Vocal Tic Disorder in the Tourette Association of America International Consortium for Genetics Database. View Abstract
Oral diadochokinetic markers of X-linked dystonia-parkinsonism. View Abstract
In humans, striato-pallido-thalamic projections are largely segregated by their origin in either the striosome-like or matrix-like compartments. View Abstract
Editorial: Current opinions in neurology editorial. View Abstract
Establishing a natural history of X-linked dystonia parkinsonism. View Abstract
Dystonias: Clinical Recognition and the Role of Additional Diagnostic Testing. View Abstract
Sustained activation in basal ganglia and cerebellum after repetitive movement in a non-task-specific dystonia. View Abstract
Functional validation of novel variants in B4GALNT1 associated with early-onset complex hereditary spastic paraplegia with impaired ganglioside synthesis. View Abstract
DYT-PRKRA Mutation P222L Enhances PACT's Stimulatory Activity on Type I Interferon Induction. View Abstract
Correction to: Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat. View Abstract
Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat. View Abstract
Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin. View Abstract
Speech and swallowing deficits in X-Linked Dystonia-Parkinsonism. View Abstract
A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy. View Abstract
Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism. View Abstract
Laryngeal Dystonia: Multidisciplinary Update on Terminology, Pathophysiology, and Research Priorities. View Abstract
The dystonia gene THAP1 controls DNA double-strand break repair choice. View Abstract
Hyperkinetic Movements in Children: Differential Diagnosis, Evaluation, and Treatment. View Abstract
Functional dystonia: A case-control study and risk prediction algorithm. View Abstract
Functional Dystonia: Differentiation From Primary Dystonia and Multidisciplinary Treatments. View Abstract
SVA insertion in X-linked Dystonia Parkinsonism alters histone H3 acetylation associated with TAF1 gene. View Abstract
Progressive Decline in Voice and Voice-Related Quality of Life in X-Linked Dystonia Parkinsonism. View Abstract
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. View Abstract
Cautionary notes on diagnosing functional neurologic disorder as a neurologist-in-training. View Abstract
Isolated Cervical Dystonia: Management and Barriers to Care. View Abstract
Dystonia 16 (DYT16) mutations in PACT cause dysregulated PKR activation and eIF2a signaling leading to a compromised stress response. View Abstract
TAF1 Transcripts and Neurofilament Light Chain as Biomarkers for X-linked Dystonia-Parkinsonism. View Abstract
Editorial: Advances in rare movement disorders. View Abstract
Neuroinflammation and histone H3 citrullination are increased in X-linked Dystonia Parkinsonism post-mortem prefrontal cortex. View Abstract
Secondary Worsening Following DYT1 Dystonia Deep Brain Stimulation: A Multi-country Cohort. View Abstract
A Case of Functional Dystonia with Associated Functional Neurological Symptoms: Diagnostic and Therapeutic Challenges. View Abstract
Neuropsychological and psychiatric outcome of GPi-deep brain stimulation in dystonia. View Abstract
Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective. View Abstract
Translational effects and coding potential of an upstream open reading frame associated with DOPA Responsive Dystonia. View Abstract
X-linked Dystonia-Parkinsonism patient cells exhibit altered signaling via nuclear factor-kappa B. View Abstract
Functional Genomic Analyses of Mendelian and Sporadic Disease Identify Impaired eIF2a Signaling as a Generalizable Mechanism for Dystonia. View Abstract
Dystonia-Causing Mutations as a Contribution to the Etiology of Spasmodic Dysphonia. View Abstract
Thalamic Volume Is Reduced in Cervical and Laryngeal Dystonias. View Abstract
Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case Series. View Abstract
Beyond Dystonia-Parkinsonism: Chorea and Ataxia with ATP1A3 Mutations. View Abstract
Pallidal stimulation for dystonia in pantothenate kinase-associated neurodegeneration. View Abstract
Structural abnormalities in the cerebellum and sensorimotor circuit in writer's cramp View Abstract
Dopamine release is impaired in a mouse model of DYT1 dystonia. View Abstract
Patient Preference in Botulinum Toxin for Writer’s Cramp View Abstract
Altered responses to dopaminergic D2 receptor activation and N-type calcium currents in striatal cholinergic interneurons in a mouse model of DYT1 dystonia. View Abstract
White matter abnormalities in dystonia normalize after botulinum toxin treatment. View Abstract
Impaired motor learning in mice expressing torsinA with the DYT1 dystonia mutation. View Abstract
Rodent models for dystonia research: characteristics, evaluation, and utility. View Abstract