Case Series
A Case Series of Monogenic Strokes in A Tertiary Care Centre
Bilia KA*, Nagendra S, Ojha P, Jagiasi K, Mahto A, Chaudhary G, Goud SK, Bagadia HP and Maniyar A
Department of Neurology, Grant Medical College and JJ Hospital, Mumbai, India
*Corresponding author:Bilia K. Aipu, Department of Neurology, Grant Medical College and JJ Hospital, Mumbai, India. E-mail Id: biliamary92@gmail.com
Article Information:Submission: 12/05/2026; Accepted: 02/06/2026; Published: 05/06/2026
Copyright: © 2026 Bilia KA, et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Abstract
Monogenic strokes are a rare but significant cause of stroke in young individuals and often present with distinct clinical and radiographic features. This case series describes three young patients with stroke caused by different monogenic disorders: CADASIL (NOTCH3 mutation), Werner syndrome (WRN gene mutation), and congenital contractural arachnodactyly (FBN2 mutation). Each case highlights unique clinical and imaging characteristics, emphasizing the importance of genetic testing in young stroke patients, particularly in the absence of traditional vascular risk factors. Early recognition and diagnosis of monogenic strokes can guide appropriate management and genetic counseling, underscoring the need for increased awareness and consideration of genetic causes in young stroke patients.
Keywords:Monogenic Stroke; Cerebral Small Vessel Disease; Genetics
