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...

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Bibliografiske detaljer
Udgivet i:Neurol Int
Main Authors: Razmeh, Saeed, Habibi, Amir Hassan, Orooji, Maryam, Alizadeh, Elham, Moradiankokhdan, Karim, Razmeh, Behroz
Format: Artigo
Sprog:Inglês
Udgivet: PAGEPress Publications, Pavia, Italy 2018
Fag:
Review
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5937219/
https://ncbi.nlm.nih.gov/pubmed/29844889
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4081/ni.2018.7516
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