Article
New Spielmeyer-Vogt variant with granular inclusions and early brain atrophy.
American journal of medical genetics - 5 Jun 1995
Philippart M, Chugani H T, Bateman J B
Abstract excerpt
Three females in 2 families were originally diagnosed with Spielmeyer-Vogt disease (SVD). The clinical course was different from SVD, with vision well preserved until age 10 years, and learning rather than visual difficulties the marker at the onset. Later, regression was unusually rapid, includi...
Topics
- Adult
- Atrophy
- Brain
- Child
- Deoxyglucose
- Female
- Fluorine Radioisotopes
- Fluorodeoxyglucose F18
- Follow-Up Studies
- Genetic Variation
- Humans
- Inclusion Bodies
- Learning Disabilities
- Neuronal Ceroid-Lipofuscinoses
- Nuclear Family
- Tomography, Emission-Computed
- Vision Disorders