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 BRIEF REPORT
Year : 2021  |  Volume : 69  |  Issue : 5  |  Page : 1359--1362

CARASIL – A Review of Patients from India


Department of Neurology, SMS Medical College, Jaipur, Rajasthan, India

Correspondence Address:
Vaibhav Mathur
Department of Neurology, Bangar Parisar, SMS Hospital, Jaipur - 302 019, Rajasthan
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0028-3886.329544

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Cerebral small vessel disease (CSVD) is a well-known cause of vascular dementia. Though a majority of these cases are sporadic, familial monogenic causes are being frequently identified as well. Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a rare autosomal recessive CSVD, caused by mutation in HTRA 1 gene on chromosome 10q (10q25.3-q26.2) in homozygous or compound heterozygous form. Indian literature has been quite scant with very few case reports of CARASIL, and only three familial cases were confirmed with mutational analysis. Testing facilities of HTRA 1 genetic mutation are now more widely available in India than before, and should be encouraged for appropriate patients. This would help in diagnosing, prognosticating and avoiding unnecessary further investigations and medications for these patients. We herein review the Indian scenario and our previously reported experiences of this disorder, while adding a case from north India with a befitting clinical history, family history, neuroimaging and documented HTRA1 genetic mutation.






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Online since 20th March '04
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