Atypical pantothenate kinase-associated neurodegeneration with variable phenotypes in an Egyptian family

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...

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Bibliographic Details
Main Authors: Ali S. Shalash, Thomas W. Rösler, Ibrahim Y. Abdelrahman, Hatem S. Abulmakarem, Stefanie H. Müller, Franziska Hopfner, Gregor Kuhlenbäumer, Günter U. Höglinger, Mohamed Salama
Format: Article
Language:English
Published: Elsevier 2021-07-01
Series:Heliyon
Subjects:
Pantothenate kinase-associated neurodegeneration
PANK2
Neurodegeneration iron accumulation
Genetics
Dystonia
Parkinsonism
Online Access:http://www.sciencedirect.com/science/article/pii/S2405844021015723

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http://www.sciencedirect.com/science/article/pii/S2405844021015723

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