Skip to Main Content
  • Become an Access Reviewer
  • Clinical Phenotypes
  • OMMBID Advisory banner
  • Ommbid banner
  • Ommbid latest banner

Abstract

Abstract  The disorder now identified as aspartoacylase deficiency is equivalent to the condition variously called spongy degeneration of the brain, spongy degeneration of the central nervous system in infancy, or spongy degeneration of infancy, and many publications have used the eponymic designation, Canavan disease. The first definition of this condition as a distinct clinical entity is properly credited to van Bogaert and Bertrand in 1949.1, 2 In retrospect, the first clinical description is attributed to Globus and Strauss in 1928.3 In 1931, Canavan described an infant with prominent enlargement of the head and cerebral and cerebellar spongy degeneration under the designation “Schilder's encephalitis periaxialis diffusa.”4 Eiselsberg is credited with the recognition of the familial nature of the disorder in 1937,5 but, like Jervis,6, 7 she described the condition as Krabbe disease. The reports of von Bogaert and Bertrand 1, 2 were comprehensive and described the essential pathologic and clinical features as well as the predilection for the occurrence of the disorder in Ashkenazic infants. In a more detailed review of the historical literature,8 Banker et al. pointed out that the Canavan eponym is hardly justified, because her report was not the first clinical description, did not recognize the familial or ethnic aspect to the disorder, and did not recognize spongy degeneration as the unique pathologic feature; the designation aspartoacylase deficiency may be most appropriate, but the eponym is widely used.

Abstract  Unraveling of the biochemical basis of infantile spongy degeneration began with the description of urinary excretion of N-acetylaspartic acid (NAA) by Kvittingen et al.,9 but aspartoacylase was reported to be normal in cultured fibroblasts; presumably the failure to demonstrate the enzyme deficiency was due to the choice of conditions for enzyme analysis. In 1987, Hagenfeldt et al. reported N-acetylaspartic aciduria and identified aspartoacylase deficiency,10 but neither of these biochemical reports recognized the association with infantile spongy degeneration. Matalon et al.,11, 12 and Divry et al.13, 14 are credited with the recognition that aspartoacylase deficiency correlated with infantile spongy degeneration (Canavan disease). Kaul et al. went on to isolate a cDNA clone for human aspartoacylase and identified the common mutation in Jewish patients.15 Matalon and colleagues have contributed extensively to observations in recent years as reviewed elsewhere.16

Want remote access to your institution's subscription?

Sign in to your MyAccess profile while you are actively authenticated on this site via your institution (you will be able to verify this by looking at the top right corner of the screen - if you see your institution's name, you are authenticated). Once logged in to your MyAccess profile, you will be able to access your institution's subscription for 90 days from any location. You must be logged in while authenticated at least once every 90 days to maintain this remote access.

Ok

About MyAccess

If your institution subscribes to this resource, and you don't have a MyAccess profile, please contact your library's reference desk for information on how to gain access to this resource from off-campus.

Subscription Options

OMMBID Full Site: One-Year Subscription

Connect to the full suite of OMMBID content including new and revised chapters that reflect the latest research, image galleries, clinical phenotypes, and more.

$295 USD
Buy Now

Pay Per View: Timed Access to all of OMMBID

24 Hour Subscription $34.95

Buy Now

48 Hour Subscription $54.95

Buy Now

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.