{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T20:30:37Z","timestamp":1786739437410,"version":"build-2736575974"},"reference-count":17,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2021,5]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>Canavan disease (CD) is an autosomal recessively inherited leukodystrophy. It affects one in 6,400 to 13,500 people in the Jewish population. However, prevalence and presentation of the disease in India is largely unknown; hence, we are reporting this series.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>This is a retrospective chart review in a tertiary care hospital from January 2015 to March 2020. CD was confirmed by elevated N- acetyl aspartate (NAA) levels in urinary gas chromatography and mass spectrometry (GCMS)\/increased NAA peak in magnetic resonance spectroscopy (MRS) and\/or detection of mutations. The data was extracted in a predesigned proforma and analyzed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      We had 12 children with mean age at presentation being 6.8 months (range 3 months to 10 months.). Males were more commonly affected (83.3%,\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      = 10). Ten children (83.3%) were born out of consanguineous parentage. All of them had visual impairment and pyramidal signs. Seizures were noted in five (42%) children. Normal head size in three (25%) and microcephaly in two (16.66%) cases were noted. Magnetic resonance imaging (MRI) revealed signal changes with bilateral symmetric T2W white matter (WM) hyperintensities in subcortical U fibers in all cases. MRS was done in ten children, all of which showed increased NAA peak. Increased level of NAA in urinary GCMS was noted in six out of eight children. Six cases had homozygous pathogenic variants in\n                      <jats:italic toggle=\"yes\">ASPA<\/jats:italic>\n                      gene. Antenatal diagnosis helped in prevention of recurrence in three families.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>Urinary NAA and MRS showing NAA peak are useful in diagnosis of CD. Macrocephaly is not a necessary finding to diagnose CD. Early diagnosis helps in genetic counseling and prevention of subsequent conceptions.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/aian.aian_386_20","type":"journal-article","created":{"date-parts":[[2020,12,1]],"date-time":"2020-12-01T03:34:40Z","timestamp":1606793680000},"page":"347-350","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":5,"title":["Canavan Disease"],"prefix":"10.4103","volume":"24","author":[{"given":"Vykuntaraju K.","family":"Gowda","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Narmadham K.","family":"Bharathi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jamunashree","family":"Bettaiah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maya","family":"Bhat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanjay K.","family":"Shivappa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-7-20240828","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1002\/ajmg.a.20334","article-title":"Canavan disease: Carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay","volume":"124A","author":"Feigenbaum","year":"2004","journal-title":"Am J Med Genet A"},{"key":"R2-7-20240828","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1111\/ped.12422","article-title":"Canavan disease: clinical features and recent advances in research","volume":"56","author":"Hoshino","year":"2014","journal-title":"Pediatr Int Aug"},{"key":"R3-7-20240828","doi-asserted-by":"crossref","first-page":"4970","DOI":"10.1021\/bi500719k","article-title":"Aspartoacylase catalytic deficiency as the cause of Canavan disease: A structural perspective","volume":"53","author":"Wijayasinghe","year":"2014","journal-title":"Biochemistry"},{"key":"R4-7-20240828","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1007\/BF01800378","article-title":"N-acetylaspartic aciduria: report of three new cases in children with a neurological syndrome associating macrocephaly and leukodystrophy","volume":"11","author":"Divry","year":"1988","journal-title":"J Inherit Metab Dis"},{"key":"R5-7-20240828","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1007\/BF01800038","article-title":"N-acetylaspartic aciduria due to aspartoacylase deficiency--a new aetiology of childhood leukodystrophy","volume":"10","author":"Hagenfeldt","year":"1987","journal-title":"J Inherit Metab Dis"},{"key":"R6-7-20240828","first-page":"66","article-title":"The clinical features and diagnosis of Canavan's disease: A case series of Iranian patients","volume":"8","author":"Karimzadeh","year":"2014","journal-title":"Iran J Child Neurol"},{"key":"R7-7-20240828","first-page":"54","article-title":"A novel mutation in aspartoacylase gene; 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