Myelin Pathology Beyond White Matter in Tuberous Sclerosis Complex (TSC) Cortical Tubers
| Autor: | Figen Söylemezoğlu, Martha Feucht, Ingmar Blümcke, Eleonora Aronica, Angelika Mühlebner, Paolo Curatolo, Lieven Lagae, Pavel Krsek, David J. Kwiatkowski, James D. Mills, Victoria-Elisabeth Gruber, Josef Zamecnik, Sergiusz Jozwiak, Roland Coras, Andrew de Neef, Jackelien van Scheppingen, Floor E. Jansen, Till S. Zimmer, Anika Bongaarts, Wim G.M. Spliet, Theresa Scholl, Johannes A. Hainfellner, Anna Jansen, Katarzyna Kotulska |
|---|---|
| Přispěvatelé: | Pathology, APH - Aging & Later Life, APH - Mental Health, ANS - Cellular & Molecular Mechanisms, Graduate School, Physiotherapy, Human Physiology and Anatomy, Pediatrics, Public Health Sciences, Mental Health and Wellbeing research group, Neurogenetics |
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
Cortical tubers
DYNAMICS Male Pathology AcademicSubjects/MED00994 CHILDREN Tuberous sclerosis Myelin 0302 clinical medicine Tuberous Sclerosis DYSPLASIA Gray Matter Myelin Sheath Cerebral Cortex 0303 health sciences ABNORMALITIES White matter food and beverages General Medicine OLIGODENDROCYTES Oligodendroglia medicine.anatomical_structure Neurology white matter microstructure Female Life Sciences & Biomedicine medicine.medical_specialty congenital hereditary and neonatal diseases and abnormalities Clinical Neurology Biology Pathology and Forensic Medicine 03 medical and health sciences Cellular and Molecular Neuroscience Cognitive dysfunction EPILEPSY SURGERY medicine Humans Pediatrics Perinatology and Child Health 030304 developmental biology Science & Technology Epilepsy fungi Neurosciences Original Articles medicine.disease Oligodendrocyte Myelin basic protein Tuberous sclerosis complex biology.protein Neurology (clinical) TSC1 Neurosciences & Neurology TSC2 030217 neurology & neurosurgery |
| Zdroj: | Journal of Neuropathology and Experimental Neurology Journal of neuropathology and experimental neurology, 79(10), 1054-1064. Lippincott Williams and Wilkins |
| ISSN: | 1554-6578 0022-3069 |
| Popis: | Tuberous sclerosis complex (TSC) is a monogenetic disease that arises due to mutations in either the TSC1 or TSC2 gene and affects multiple organ systems. One of the hallmark manifestations of TSC are cortical malformations referred to as cortical tubers. These tubers are frequently associated with treatment-resistant epilepsy. Some of these patients are candidates for epilepsy surgery. White matter abnormalities, such as loss of myelin and oligodendroglia, have been described in a small subset of resected tubers but mechanisms underlying this phenomenon are unclear. Herein, we analyzed a variety of neuropathologic and immunohistochemical features in gray and white matter areas of resected cortical tubers from 46 TSC patients using semi-automated quantitative image analysis. We observed divergent amounts of myelin basic protein as well as numbers of oligodendroglia in both gray and white matter when compared with matched controls. Analyses of clinical data indicated that reduced numbers of oligodendroglia were associated with lower numbers on the intelligence quotient scale and that lower amounts of myelin-associated oligodendrocyte basic protein were associated with the presence of autism-spectrum disorder. In conclusion, myelin pathology in cortical tubers extends beyond the white matter and may be linked to cognitive dysfunction in TSC patients. ispartof: JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY vol:79 issue:10 pages:1054-1064 ispartof: location:England status: published |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|