Clinical characteristics and molecular pathogenesis of pantothenate kinase-associated neurodegenerative disease / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 175-178, 2019.
Article
em Zh
| WPRIM
| ID: wpr-775784
Biblioteca responsável:
WPRO
ABSTRACT
Pantothenate kinase-associated neurodegenerative diseases is a type of neurodegeneration with brain iron accumulation characterized by excessive iron deposition in specific parts of the brain. The phenotypic spectrum includes classic and atypical PKAN. The clinical presentation may range from speech disorder to severe dystonia, dysphagia, mental retardation and retinal degeneration. It is an autosomal recessive disorder characterized by a variant in the PANK2 gene, pathogenesis involves mitochondrial dysfunction, oxidative stress damage, lipid metabolism disorders and autophagy disorders. This review summarizes the clinical presentation, molecular pathogenesis, imaging modalities and genetics.
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Encéfalo
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Fosfotransferases (Aceptor do Grupo Álcool)
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Doenças Neurodegenerativas
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Ferro
Tipo de estudo:
Etiology_studies
Limite:
Humans
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2019
Tipo de documento:
Article