Journal of Movement Disorders

Ayush Agarwal

4 Articles

Clozapine-Induced Negative Myoclonus Leads to Recurrent Falls: A Case Report: Shiny Joy, Punith Saroja Bylappa, Divyani Garg, Ayush Agarwal, Achal Kumar Srivastava; J Mov Disord. 2025;18(1):99-100. Published online November 11, 2024; DOI: https://doi.org/10.14802/jmd.24207

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The First Indian Patient With Benign Hereditary Chorea due to a De Novo Mutation in the NKX2-1 Gene: Divyani Garg, Ayush Agarwal, Mohammed Faruq, Achal Kumar Srivastava; J Mov Disord. 2024;17(2):239-241. Published online February 29, 2024; DOI: https://doi.org/10.14802/jmd.23273

Spastic Paraplegia 82 in Two Asian Indian Siblings With PCYT2 Mutations: Anil Dash, Farsana Mustafa, Divyani Garg, Sreeja Samineni, Ayush Agarwal, Ajay Garg, Achal Kumar Srivastava; Received December 16, 2024 Accepted January 24, 2025 Published online January 31, 2025; DOI: https://doi.org/10.14802/jmd.24259 [Epub ahead of print]

CSF1R-related adult-onset leukoencephalopathy with axonal spheroids: A case series of four Asian Indian patients: Divyani Garg, Abhishek Vaingankar, Anu Gupta, Roopa Rajan, Ajay Garg, Ayush Agarwal, Farsana Mustafa, Divya M Radhakrishnan, Awadh Kishor Pandit, Venugopalan Y Vishnu, Mamta Bhushan Singh, Rohit Bhatia, Achal Kumar Srivastava; Received January 4, 2025 Accepted February 17, 2025 Published online February 17, 2025; DOI: https://doi.org/10.14802/jmd.25004 [Accepted]

Abstract PDF: Background
Colony stimulating factor 1 receptor-related leukoencephalopathy (CSF1R-L) is a rare, adult onset leukoencephalopathy. Descriptions from the Indian subcontinent remain limited.
Objective
To report four patients with genetically confirmed CSF1R-L from four Asian Indian families, describing clinical, molecular and radiological features.
Methods
All patients underwent clinical examination, MRI brain, and whole exome sequencing to identify causative variants in CSF1R gene. We also reviewed published Indian cases with CSF1R-L.
Results
Age at enrolment ranged from 34-40 years. Duration of symptoms ranged from 11 months to 2 years. The chief clinical phenotype in three patients was a rapidly evolving cognitive-behavioural syndrome combined with atypical parkinsonism, and asymmetrical spastic tetraparesis in one patient. We identified four different variants (three missense, one inframe deletion). Radiological findings demonstrated white matter involvement, and diffusion restriction involving subcortical white matter and pyramidal tracts.
Conclusions
We expand the literature from India with four new cases of CSF1R-L.

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