Familial adult onset of Krabbe's disease resembling hereditary spastic paraplegia with normal neuroimaging.

@article{Bajaj2002FamilialAO,
  title={Familial adult onset of Krabbe's disease resembling hereditary spastic paraplegia with normal neuroimaging.},
  author={Narinder P. S. Bajaj and Adam Waldman and Richard W. Orrell and Nicholas Wood and Kailash P Bhatia},
  journal={Journal of neurology, neurosurgery, and psychiatry},
  year={2002},
  volume={72 5},
  pages={635-8}
}
Krabbe's disease (globoid cell leucodystrophy) is a disorder involving the white matter of the peripheral and central nervous systems. Mutations in the gene for the lysosomal enzyme galactocerebrosidase (GALC) result in low enzymatic activity and decreased ability to degrade galactolipids found in myelin. The disease is classically of infantile onset, but adult onset cases have been reported. Magnetic resonance imaging (MRI) of the brain shows characteristic abnormalities. A unique family with… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-10 of 13 extracted citations

Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review

Journal of Inherited Metabolic Disease • 2012
View 5 Excerpts
Highly Influenced

Lysosomal storage diseases

Translational science of rare diseases • 2016
View 1 Excerpt

References

Publications referenced by this paper.
Showing 1-10 of 29 references

Similar Papers

Loading similar papers…