The natural history of Canavan disease: 23 new cases and comparison with patients from literature

The natural history of Canavan disease: 23 new cases and comparison with patients from literature

Abstract Background Canavan disease (CD, MIM # 271900) is a rare and devastating leukodystrophy of early childhood. To identify clinical features that could serve as endpoints for treatment trials, the clinical course of CD was studied retrospectively and prospectively in 23 CD patients. Results wer...

Full description

Bibliographic Details
Main Authors: Annette Bley, Jonas Denecke, Alfried Kohlschütter, Gerhard Schön, Sandra Hischke, Philipp Guder, Tatjana Bierhals, Heather Lau, Maja Hempel, Florian S. Eichler
Format: Article
Language:English
Published: BMC 2021-05-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Leukodystrophy
Early childhood neurodegeneration
Aspartoacylase deficiency
Spongy degeneration of the brain
Canavan-van bogaert-bertrand disease
Online Access:https://doi.org/10.1186/s13023-020-01659-3

Internet

https://doi.org/10.1186/s13023-020-01659-3

Similar Items