Krabbe disease in adults: Phenotypic and genotypic update from a series of 11 cases and a reviewdoi:10.1007/s10545-012-9560-4Rabab DebsRoseline FroissartPatrick AubourgFrederic Sedel
In very rare cases, Krabbe disease may be late onset and present itself in older children and even adults, who typically experience a slower progression of the disease with milder symptoms. Generally, however, the prognosis is poor for children under the age of two years. In fact, the majori...
This study presented two Chinese adult female patients who were diagnosed with adult-onset Krabbe disease (KD) and reviewed this disease in Chinese patients. Two young female adults in their 20s were enrolled in this study. Clinical data, including symptoms, magnetic resonance imaging (MRI) ...
Krabbe disease usually affects infants, but has also been reported in older children and adults. Different phenotypes are described based on age at onset. The gene encoding the galactocerebrosidase enzyme was cloned and expressed in 1993, and up until today 117 mutations have been described. In...
Globoid cell leukodystrophy or Krabbe is a disease that affects children as well as adults who have mutations in the gene encoding the enzyme galactosylceramidase/galctocerebrosidase (GALC), resulting in the deposition of the toxic lipid D-galactosyl-beta1-1' sphingosine (GalSph or ps...
While some mutations clearly result in the infantile type if found homozygous or with another severe mutation, it is difficult to predict the phenotype of novel mutations or when mutations are found in the heterozygous state. A high incidence of polymorphic changes on apparent disease-causing ...
In late-onset disease, MRI is characterized by signal abnormalities within the pyramidal tract, posterior corpus callosum, and parieto-occipital white matter [1], Although cases of Krabbe disease with selective involvement of corticospinal tract only have been reported in adults, case reports of ...
53. DTI with quantitative tractography as a marker of disease progression in newborns with Krabbe diseaseIt is not possible to determine if neonates diagnosed with Krabbe disease through statewide neonate screening programs will develop the disease as infants, juveniles, or adults. The only available ...