[Clinical characteristics and molecular pathogenesis of pantothenate kinase-associated neurodegenerative disease].

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.

• Authors: Xiaolu Chen, Tao Yu, Rong Luo
• Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics (Zhonghua Yi Xue Yi Chuan Xue Za Zhi) Vol. 36 Issue 2 Pg. 175-178 (Feb 10 2019) ISSN: 1003-9406 [Print] China
• PMID: 30703242 (Publication Type: Journal Article, Review)

Chemical References

• Iron
• Phosphotransferases (Alcohol Group Acceptor)
• pantothenate kinase

Topics

• Brain
• Humans
• Iron
• Neurodegenerative Diseases
• Phosphotransferases (Alcohol Group Acceptor)