Cargando…
Atypical pantothenate kinase-associated neurodegeneration with variable phenotypes in an Egyptian family
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare hereditary neurodegenerative disease characterized by an accumulation of iron within the brain. In the present report, we describe a family with 4 affected siblings presenting with variable clinical manifestations, e.g., parkinsonian...
Autores principales: | Shalash, Ali S., Rösler, Thomas W., Abdelrahman, Ibrahim Y., Abulmakarem, Hatem S., Müller, Stefanie H., Hopfner, Franziska, Kuhlenbäumer, Gregor, Höglinger, Günter U., Salama, Mohamed |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8273219/ https://www.ncbi.nlm.nih.gov/pubmed/34286134 http://dx.doi.org/10.1016/j.heliyon.2021.e07469 |
Ejemplares similares
-
Evidence for pathogenicity of variant ATM Val1729Leu in a family with ataxia telangiectasia
por: Shalash, Ali S., et al.
Publicado: (2021) -
c.207C>G mutation in sepiapterin reductase causes autosomal dominant dopa-responsive dystonia
por: Shalash, Ali S., et al.
Publicado: (2017) -
Late Onset Atypical Pantothenate-Kinase-Associated Neurodegeneration
por: Diaz, Natalie
Publicado: (2013) -
Clinical Heterogeneity of Atypical Pantothenate Kinase-Associated Neurodegeneration in Koreans
por: Lee, Jae-Hyeok, et al.
Publicado: (2016) -
Pantothenate kinase-associated neurodegeneration
por: Hundallah, Khalid, et al.
Publicado: (2017)