التفاصيل البيبلوغرافية
| العنوان: |
Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers. |
| المؤلفون: |
Hall, Deborah, Robertson, Erin, Shelton, Annie, Losh, Molly, Mila, Montserrat, Moreno, Esther, Gomez-Anson, Beatriz, Martínez-Cerdeño, Verónica, Grigsby, Jim, Lozano, Reymundo, Hagerman, Randi, Maria, Lorena, Berry-Kravis, Elizabeth, O'Keefe, Joan |
| المصدر: |
Cerebellum; Oct2016, Vol. 15 Issue 5, p578-586, 9p |
| مصطلحات موضوعية: |
BRAIN, RADIOGRAPHY, FRAGILE X syndrome, BRAIN imaging, NEUROBEHAVIORAL disorders, PHENOTYPES, GENETIC mutation, GENETICS |
| مستخلص: |
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive neurodegenerative disorder caused by a repeat expansion in the fragile X mental retardation 1 ( FMR1) gene. The disorder is characterized by kinetic tremor and cerebellar ataxia, shows age-dependent penetrance, and occurs more frequently in men. This paper summarizes the key emerging issues in FXTAS as presented at the Second International Conference on the FMR1 Premutation: Basic Mechanisms & Clinical Involvement in 2015. The topics discussed include phenotype-genotype relationships, neurobehavioral function, and updates on FXTAS genetics and imaging. [ABSTRACT FROM AUTHOR] |
|
Copyright of Cerebellum is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) |
| قاعدة البيانات: |
Complementary Index |
