Cargando…
Characterization of a novel CSF1R mutation causing hereditary diffuse leukoencephalopathy with spheroids in a case presenting with young-onset dementia
OBJECTIVE: This poster aims to report an unregistered mutation CSF1R gene in a patient presenting young-onset dementia. Hypothesis: Novel heterozygous deletion–insertion mutation in the Colony-Stimulating Factor 1 Receptor (CSF1R) gene is linked to a case of hereditary diffuse leukoencephalopathy wi...
Autores principales: | Nasr, Walid, Gad, Mahmoud, Qassem, Tareq |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cambridge University Press
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8770080/ http://dx.doi.org/10.1192/bjo.2021.345 |
Ejemplares similares
-
An unregistered TARDBP mutation in a case presenting with young-onset dementia
por: Gad, Mahmoud, et al.
Publicado: (2021) -
CSF1R mutations in hereditary diffuse leukoencephalopathy with spheroids are loss of function
por: Pridans, Clare, et al.
Publicado: (2013) -
Involvement of the optic nerve in mutated CSF1R-induced hereditary diffuse leukoencephalopathy with axonal spheroids
por: Shu, Yaqing, et al.
Publicado: (2016) -
Functional characterization of a novel CSF1R mutation causing hereditary diffuse leukoencephalopathy with spheroids
por: Kraya, Torsten, et al.
Publicado: (2019) -
Mutations in the colony stimulating factor 1 receptor (CSF1R) cause hereditary diffuse leukoencephalopathy with spheroids
por: Rademakers, Rosa, et al.
Publicado: (2011)