{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T19:50:17Z","timestamp":1793217017226,"version":"4.5.0"},"reference-count":7,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"5","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2021,9]]},"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.4103\/0028-3886.329544","type":"journal-article","created":{"date-parts":[[2024,9,7]],"date-time":"2024-09-07T15:06:16Z","timestamp":1725721576000},"page":"1359-1362","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":12,"title":["CARASIL \u2013 A Review of Patients from India"],"prefix":"10.4103","volume":"69","author":[{"given":"Dinesh","family":"Khandelwal","sequence":"first","affiliation":[{"name":"Department of Neurology, SMS Medical College, Jaipur, Rajasthan, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vaibhav","family":"Mathur","sequence":"additional","affiliation":[{"name":"Department of Neurology, SMS Medical College, Jaipur, Rajasthan, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arvind","family":"Vyas","sequence":"additional","affiliation":[{"name":"Department of Neurology, SMS Medical College, Jaipur, Rajasthan, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaypalsing","family":"Ghunawat","sequence":"additional","affiliation":[{"name":"Department of Neurology, SMS Medical College, Jaipur, Rajasthan, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amit K","family":"Bagaria","sequence":"additional","affiliation":[{"name":"Department of Neurology, SMS Medical College, Jaipur, Rajasthan, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2021,10,30]]},"reference":[{"key":"R1-20250925","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1016\/j.abb.2011.10.007","article-title":"The structural basis of mode of activation and functional diversity: A case study with HtrA family of serine proteases","volume":"516","author":"Singh","year":"2011","journal-title":"Arch Biochem Biophys"},{"issue":"2","key":"R2-20250925","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1016\/j.jstrokecerebrovasdis.2010.11.008","article-title":"Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): From discovery to gene identification","volume":"20","author":"Fukutake","year":"2011","journal-title":"J Stroke Cerebrovasc Dis"},{"key":"R3-20250925","doi-asserted-by":"crossref","first-page":"898","DOI":"10.1212\/WNL.0000000000000202","article-title":"Two novel HTRA1 mutations in a European CARASIL patient","volume":"82","author":"Bianchi","year":"2014","journal-title":"Neurology"},{"key":"R4-20250925","first-page":"59","article-title":"CARASIL","volume":"60","author":"Diwan","year":"2012","journal-title":"J Assoc Physicians India"},{"key":"R5-20250925","doi-asserted-by":"crossref","first-page":"2392","DOI":"10.1212\/WNL.0000000000004710","article-title":"CARASIL families from India with 3 novel null mutations in the HTRA1 gene","volume":"89","author":"Preethish-Kumar","year":"2017","journal-title":"Neurology"},{"issue":"1","key":"R6-20250925","doi-asserted-by":"crossref","first-page":"232","DOI":"10.4103\/0028-3886.222859","article-title":"CARASIL, a rare genetic cause of stroke in the young","volume":"66","author":"Devaraddi","year":"2018","journal-title":"Neurol India"},{"key":"R7-20250925","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1212\/WNL.0000000000001803","article-title":"Characteristic features and progression of abnormalities on MRI for CARASIL","volume":"85","author":"Nozaki","year":"2015","journal-title":"Neurology"}],"container-title":["Neurology India"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/0028-3886.329544","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T15:40:33Z","timestamp":1787067633000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/0028-3886.329544"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9]]},"references-count":7,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2021]]}},"URL":"https:\/\/doi.org\/10.4103\/0028-3886.329544","relation":{},"ISSN":["0028-3886","1998-4022"],"issn-type":[{"value":"0028-3886","type":"print"},{"value":"1998-4022","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,9]]},"assertion":[{"value":"2020-03-11","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-05-15","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}}]}}