Search

Your search keyword '"Dlouhy, S R"' showing total 6 results
Start Over Author "Dlouhy, S R" Journal neurology
6 results on '"Dlouhy, S R"'

1. Insomnia associated with thalamic involvement in E200K Creutzfeldt-Jakob disease

Author

Taratuto, A. L., primary, Piccardo, P., additional, Reich, E. G., additional, Chen, S. G., additional, Sevlever, G., additional, Schultz, M., additional, Luzzi, A. A., additional, Rugiero, M., additional, Abecasis, G., additional, Endelman, M., additional, Garcia, A. M., additional, Capellari, S., additional, Xie, Z., additional, Lugaresi, E., additional, Gambetti, P., additional, Dlouhy, S. R., additional, and Ghetti, B., additional

Published
2002
Full Text
View/download PDF

6. Adult-onset neurodegenerative disorder due to proteolipid protein gene mutation in the mother of a man with Pelizaeus-Merzbacher disease.

Author

Nance MA, Boyadjiev S, Pratt VM, Taylor S, Hodes ME, and Dlouhy SR

Subjects
Adult, Age of Onset, Brain pathology, Diffuse Cerebral Sclerosis of Schilder pathology, Female, Humans, Male, Middle Aged, Mutation, Diffuse Cerebral Sclerosis of Schilder genetics, Proteolipids genetics
Abstract

A 23-year-old man with Pelizaeus-Merzbacher disease had a novel mutation, C344A (Thr115Lys), in exon 3 of the proteolipid protein gene (PLP) His mother, heterozygous for the mutation, developed progressive personality change and a gait disorder in her mid-20s. Her MRI at age 53 showed a diffuse severe leukodystrophy. This report extends the phenotypic range of disease due to PLP gene mutations to include adult-onset dementia in females.

Published
1996
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results