The diverse neurological features of Niemann‐Pick disease type C: A report of two cases
- 1 January 1988
- journal article
- case report
- Published by Wiley in Movement Disorders
- Vol. 3 (4) , 295-299
- https://doi.org/10.1002/mds.870030403
Abstract
Two cases of Niemann‐Pick disease type C are described in order to illustrate the variable neurological features of this rare condition. One presented with a predominantly akinetic‐rigid syndrome at the age of 5 years. The second developed progressive ataxia, accompanied by a vertical gaze palsy, when she was 13. Neither patient had hepatosplenomegaly; the diagnosis of Niemann‐Pick disease type C was based on finding foamy storage cells in bone marrow aspirates.Keywords
This publication has 12 references indexed in Scilit:
- Niemann-pick variant disorders: comparison of errors of cellular cholesterol homeostasis in group D and group C fibroblasts.Proceedings of the National Academy of Sciences, 1987
- Sphingomyelinase and Niemann-Pick DiseasePublished by Springer Nature ,1986
- A Progressive Neurologic Disorder With Supranuclear Vertical Gaze Paresis and Distinctive Bone Marrow CellsMayo Clinic Proceedings, 1984
- Adult dystonic lipidosisNeurology, 1982
- Nine Cases of Sphingomyelin Lipidosis, a New Variant in Spanish-American ChildrenAmerican Journal of Diseases of Children, 1977
- Juvenile dystonic lipidosisNeurology, 1977
- A NEUROVISCERAL STORAGE DISEASE WITH VERTICAL SUPRANUCLEAR OPHTHALMOPLEGIA, AND ITS RELATIONSHIP TO NIEMANN-PICK DISEASEBrain, 1973
- Progressive paresis of vertical gaze in lipid storage diseaseNeurology, 1971
- THE CEREBRAL DEFECT IN TAY‐SACHS DISEASE AND NIEMANN‐PICK DISEASE*Journal of Neurochemistry, 1961
- NIEMANN-PICK DISEASEMedicine, 1958