Article
Gaucher disease with oculomotor apraxia and cardiovascular calcification (Gaucher type IIIC).
Neurology - 11 Jan 2000
Bohlega S, Kambouris M, Shahid M, Al Homsi M, Al Sous W
Abstract excerpt
The authors describe four siblings from consanguineous parents who presented with oculomotor deficit in early childhood characterized by impaired volitional horizontal saccades, compensatory lateral head thrust, and preservation of vertical movement. When about 10 years of age, heavily calcified aortic and mitral valves required surgery. Fibroblast beta-glucocerebrosidase activity was markedly reduced. Genotype...
Topics
- Adolescent
- Amino Acid Substitution
- Apraxias
- Base Sequence
- Calcinosis
- Female
- Gaucher Disease
- Glucosylceramidase
- Heart Valve Diseases
- Humans
- Male
- Mutation
- Oculomotor Muscles