The Natural History of Canavan Disease: Description of 23 New Cases and Comparison with Literature


Objective: Canavan disease (CD, MIM # 271900) is a fatal and presently incurable leukodystrophy caused by the deficiency of the enzyme aspartoacylase. The purpose of this study is to delineate the natural history of CD that might be helpful for evaluating upcoming experimental treatments.

Methods: The clinical course of CD was studied retrospectively in 23 patients with a confirmed diagnosis. Results were compared with those of CD patients reported in the literature.

Results: Ethnic background of our patients did not confirm the widely held conception of CD as a predominantly Ashkenazi Jewish genetic disease. Onset of symptoms was between 0 and 6 months. Common symptoms at onset were developmental delay, macrocephaly, and low muscle tone. Psychomotor development of patients was severely impaired. Only 6 out of 23 children acquired head control. No participant of our study was able to walk without support or talk in full sentences. Most patients never reached advanced psychomotor abilities. Those patients who reached some psychomotor milestones lost their acquired functions again. Follow-up time was between 2 months and 26 years. The clinical course and survival of our CD patients was similar to that of patients reported in the literature.

Conclusion: This ongoing study of the natural disease course of CD includes longitudinal data and contributes to a body of knowledge necessary for the evaluation of upcoming experimental therapies CD seems to be occurring more frequently outside Ashkenazi communities than previously thought.

Bibliografische Daten

StatusVeröffentlicht - 2017