CARASIL - A Review of Patients from India

Area of Science:

• Neurology
• Genetics
• Vascular Diseases

Background:

• Cerebral small vessel disease (CSVD) frequently causes vascular dementia.
• While often sporadic, familial monogenic causes are increasingly recognized.
• Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CARASIL) is a rare autosomal recessive CSVD linked to HTRA1 gene mutations.

Purpose of the Study:

• To review the Indian landscape of CARASIL.
• To highlight the importance of HTRA1 genetic mutation testing.
• To present a new case from North India.

Main Methods:

• Literature review of CARASIL in India.
• Analysis of previously reported cases.
• Presentation of a new patient case with clinical, imaging, and genetic data.

Main Results:

• Indian literature on CARASIL is limited, with few reported familial cases confirmed by mutation analysis.
• HTRA1 genetic mutation testing is becoming more accessible in India.
• A new case from North India with confirmed HTRA1 mutation is presented.

Conclusions:

• Increased availability of HTRA1 genetic testing in India should be encouraged for diagnosing CARASIL.
• Genetic testing aids in accurate diagnosis, prognosis, and avoids unnecessary investigations and treatments.
• This review underscores the need for greater awareness and diagnostic capabilities for CARASIL in India.