{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,25]],"date-time":"2025-04-25T04:09:22Z","timestamp":1745554162349,"version":"3.40.4"},"reference-count":2,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2002,1,1]],"date-time":"2002-01-01T00:00:00Z","timestamp":1009843200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2002,1,1]],"date-time":"2002-01-01T00:00:00Z","timestamp":1009843200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Public Health Genomics"],"published-print":{"date-parts":[[2002]]},"abstract":"<jats:p>&lt;i&gt;Objective:&lt;\/i&gt; To study the prevalence and clinical profile of cerebral lipidoses in patients with progressive neurodegeneration. &lt;i&gt;Subjects and Methods:&lt;\/i&gt; A total of 771 patients clinically diagnosed with a progressive neurodegenerative disease were investigated for lipidoses. Specific enzyme assays in serum and leucocytes and other relevant investigations, including histopathology, neuroimaging and neurophysiological studies were conducted when indicated. &lt;i&gt;Results:&lt;\/i&gt; Fifty-four cases of sphingolipidoses and 1 case of sialidosis type 1 were diagnosed. The sphingolipidoses consisted of 30 cases of metachromatic leukodystrophy, 13 cases of Tay-Sachs disease and its variants, 11 cases of Sandhoff disease, and 1 case each of Niemann-Pick disease and multiple sulphatase deficiency. The clinical features were similar to earlier reports. Parental consanguinity was present in 63.6% of patients. &lt;i&gt;Conclusions:&lt;\/i&gt; In south India, where consanguineous marriages are strongly favoured, inherited diseases such as the cerebral lipidoses should be considered when evaluating a patient with progressive neurodegeneration. The establishment of specialised referral centres would provide a helpful approach to the prevention and management of these fatal disorders.<\/jats:p>","DOI":"10.1159\/000066339","type":"journal-article","created":{"date-parts":[[2003,4,15]],"date-time":"2003-04-15T12:11:24Z","timestamp":1050408684000},"page":"186-191","source":"Crossref","is-referenced-by-count":5,"title":["Cerebral Lipidoses in Patients with Progressive Neurodegeneration: A Study from South India"],"prefix":"10.1159","volume":"5","author":[{"given":"R.","family":"Christopher","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Nalini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2002,11,15]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(59)90119-6"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(80)90143-6"}],"container-title":["Public Health Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/66339","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/66339","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T03:14:55Z","timestamp":1745464495000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000066339"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002]]},"references-count":2,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2002,11,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000066339","archive":["Portico"],"relation":{},"ISSN":["1662-4246","1662-8063"],"issn-type":[{"type":"print","value":"1662-4246"},{"type":"electronic","value":"1662-8063"}],"subject":[],"published":{"date-parts":[[2002]]}}}