Dramatic phenotypic improvement during pregnancy in a genetic leukodystrophy: estrogen appears to be a critical factor.

@article{Matsuda2001DramaticPI,
  title={Dramatic phenotypic improvement during pregnancy in a genetic leukodystrophy: estrogen appears to be a critical factor.},
  author={Junko Matsuda and Marie Th{\'e}r{\`e}se Vanier and Yuko Saito and Kunihiko Kaneko Junji Suzuki},
  journal={Human molecular genetics},
  year={2001},
  volume={10 23},
  pages={2709-15}
}
Globoid cell leukodystrophy is one of the classical genetic leukodystrophies in humans. The typical infantile disease in man (Krabbe disease) is caused by deficiency of lysosomal galactosylceramidase. We recently generated a new mouse model of a late-onset, chronic form of the disease by inactivating saposin A, the essential activator of galactosylceramidase. The phenotypic features of saposin A(-/-) mice are qualitatively identical but milder than those of twitcher mice, which is caused by… CONTINUE READING