Retinal vascular pathology in a mouse model of Lafora progressive myoclonus epilepsy

Ruchira Pranay Patil; Nitin Kumar; Arveen Kaur; Rajendra Kumar Munian; Bishakh Bhattacharya; Subramaniam Ganesh; Rashmi Parihar

doi:10.1016/j.neures.2024.02.004

Retinal vascular pathology in a mouse model of Lafora progressive myoclonus epilepsy

Neurosci Res. 2024 Mar 6:S0168-0102(24)00038-5. doi: 10.1016/j.neures.2024.02.004. Online ahead of print.

Authors

Ruchira Pranay Patil¹, Nitin Kumar², Arveen Kaur¹, Rajendra Kumar Munian³, Bishakh Bhattacharya⁴, Subramaniam Ganesh⁵, Rashmi Parihar⁶

Affiliations

¹ Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur, India.
² Central Experimental Animal Facility, Indian Institute of Technology, Kanpur, India.
³ Department of Mechanical Engineering, Indian Institute of Technology, Kanpur, India; Department of Mechanical Engineering, Indian Institute of Technology Ropar, India.
⁴ Department of Mechanical Engineering, Indian Institute of Technology, Kanpur, India.
⁵ Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur, India; Central Experimental Animal Facility, Indian Institute of Technology, Kanpur, India; The Mehta Family Centre for Engineering in Medicine, Indian Institute of Technology Kanpur, India. Electronic address: sganesh@iitk.ac.in.
⁶ Central Experimental Animal Facility, Indian Institute of Technology, Kanpur, India. Electronic address: rashmip@iitk.ac.in.

PMID: 38458494
DOI: 10.1016/j.neures.2024.02.004

Abstract

Neurodegenerative diseases (ND) affect distinct populations of neurons and manifest various clinical and pathological symptoms. A subset of ND prognoses has been linked to vascular risk factors. Consequently, the current study investigated retinal vascular abnormalities in a murine model of Lafora neurodegenerative disease (LD), a fatal and genetic form of progressive myoclonus epilepsy that affects children. Here, arterial rigidity was evaluated by measuring pulse wave velocity and vasculature deformations in the retina. Our findings in the LD mouse model indicate altered pulse wave velocity, retinal vascular thinning, and convoluted retinal arteries.

Keywords: Blood-brain barrier (BBB) permeability; Laser Doppler Vibrometery; Neurodegenerative disorders; Neurovascular uncoupling; Seizures; Vascular dementia.