Mitesh Chandarana

From genes to pathways: genetic convergence in early-onset Parkinson’s disease in India

Ramesh Menon, Aayat Ibrahim Khan, Dayanandhi Elangovan, Rukmini Mridula Kandadai et autres

Abstract Parkinson’s disease (PD) arises through disruption of multiple interconnected cellular processes, but the genetic contributions to these processes may differ across ancestries. We investigated functional convergence among genes harboring pathogenic or likely pathogenic (P/LP) variants and variants of uncertain significance (VUS) …

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Progressive Supranuclear Palsy in India: Insights from a Large Multicenter Clinical Cohort (Project PAIR-PSP)

Prashanth Lingappa Kukkle, Divyani Garg, Jacky Ganguly, Soaham Desai et autres

Background: Progressive supranuclear palsy (PSP) is a rare and devastating tauopathy with limited global data. Given India’s large population, genetic diversity, and clinical heterogeneity, large multicenter datasets are crucial to enrich global understanding of PSP. Objective To characterize the demographic, clinical, and …

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The Expanding Spectrum of Anti-IgLON5 Disease: A Case Series from an Indian Cohort

Avinash Ganapule, Divyani Garg, Ayush Agarwal, Anu Gupta et autres

ABSTRACT: Anti-IgLON5 disease is an evolving entity that lies at the confluence of autoimmunity and neurodegeneration. Reports from India remain sparse. In this series, we describe seven Indian patients with anti-IgLON5-related disease. Patients presented across the fifth to eighth decades with a …

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Treatable Hereditary Cerebellar Ataxias

Mitesh Chandarana, Asha Kishore

Hereditary cerebellar ataxia (HA) are a heterogeneous group of disorders characterized by the presence of slowly progressive gait ataxia, dysarthria and other cerebellar signs. Detailed clinical history and neurologic as well as systemic examination are key to accurate diagnosis and hierarchical diagnostic …

Spectrum of de novo movement disorders in the setting of COVID-19 infection

Heli S Shah, Mitesh Chandarana, Soaham Desai

The novel coronavirus disease 2019 (COVID-19) caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has been associated with a myriad of potential neurological manifestations, with de novo movement disorders still being reported. There is growing concern about a possible new …

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Spectrum of de novo movement disorders in the setting of COVID-19 infection

Mitesh Chandarana, Heli Shah, Soaham Desai

Movement disorders are relatively sparse amongst COVID-19 patients. However, in the setting of large number of COVID-19 cases, relatively rare acute to subacute onset, para-infectious or post-infectious movement disorders such as myoclonus and myoclonus-ataxia with or without opsoclonus have increasingly become more …

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Oromandibular Dystonia – A Systematic Review

Udit Umesh Saraf, Mitesh Chandarana, KP Divya, Syam Krishnan

Oromandibular dystonia (OMD) is a clinical problem which is commonly encountered in the practice of movement disorders. OMD results from a variety of genetic and acquired etiologies and can occur as an isolated manifestation, or as part of an isolated generalized or …

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Huntington’s disease presenting as adult-onset tourettism

Mitesh Chandarana, Udit Umesh Saraf, Kalikavil Puthanveedu Divya, Syam Krishnan

Huntington’s disease (HD) is an autosomal dominant progressive neurodegenerative disease, caused by trinucleotide repeat expansion (CAG) in the Huntingtin gene ( HTT ) on chromosome 4. It is typically characterized by the combination of chorea with or without other extrapyramidal symptoms, oculomotor …

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Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – “Out of the Woods”

Mitesh Chandarana, Ajith Cherian, Kalikavil Puthanveedu Divya, Syam Krishnan et autres

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Myoclonus- A Review

Mitesh Chandarana, Udit Umesh Saraf, Kalikavil Puthanveedu Divya, Syam Krishnan et autres

Myoclonus is a hyperkinetic movement disorder characterized by a sudden, brief, involuntary jerk. Positive myoclonus is caused by abrupt muscle contractions, while negative myoclonus by sudden cessation of ongoing muscular contractions. Myoclonus can be classified in various ways according to body distribution, …

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ADCY5-related dyskinesia with myoclonus-dystonia syndrome

Udit Umesh Saraf, Mitesh Chandarana, Kalikavil Puthanveedu Divya, Syam Krishnan

ADCY5 -related dyskinesia is a childhood-onset autosomal dominant disorder that is caused by gain-of-function mutations in the ADCY5 gene. The core clinical features include a varying combination of hyperkinetic movement disorders (chorea, athetosis, dystonia, or myoclonus), orofacial dyskinesia, nocturnal exacerbations of dyskinesias …

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Abnormal Saccades Differentiate Adolescent Onset Variant Ataxia Telangiectasia from Other Myoclonus Dystonia

Ajith Cherian, Mitesh Chandarana, Ashish Anand Susvirkar, Divya KP et autres

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