Cargando…
Pantothenate kinase-associated neurodegeneration: Clinical aspects, diagnosis and treatments
Pantothenate Kinase-Associated Neurodegeneration (PKAN) is an autosomal recessive disorder characterized by a mutation in the PANK2 gene. The clinical presentation may range from only speech disorder to severe generalized dystonia, spasticity, Visual loss, dysphagia and dementia. The hallmark of thi...
Autores principales: | , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
PAGEPress Publications, Pavia, Italy
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5937219/ https://www.ncbi.nlm.nih.gov/pubmed/29844889 http://dx.doi.org/10.4081/ni.2018.7516 |