Article
Cerebrotendinous xanthomatosis: molecular diagnosis enables presymptomatic detection of a treatable disease.
Neurology - 1 Feb 1994
Meiner V, Meiner Z, Reshef A, Björkhem I, Leitersdorf E
Abstract excerpt
We report an early molecular diagnosis of cerebrotendinous xanthomatosis (CTX) in a Jewish Moroccan family with two affected siblings. The proband displayed characteristic manifestations of the disease, whereas a younger brother, homozygous for the mutant allele, was asymptomatic. Clinical studie...
Topics
- Action Potentials
- Adolescent
- Child
- Cholestanol
- Cholesterol
- Consanguinity
- Electroencephalography
- Exons
- Female
- Genotype
- Humans
- Israel
- Jews
- Male
- Median Nerve
- Middle Aged
- Morocco
- Motor Neurons