Evolution and novel radiological changes of neurodegeneration associated with mutations in C19orf12.

Parkinsonism & Related Disorders(2017)

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摘要
•White matter hyperintensities may be observed in MPAN patients and localized mostly periventricular region.•In the early stages of the MPAN disease MRI scans may not show changes typical for NBIA.•Low HDL cholesterol levels are observed in most MPAN cases.
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关键词
Neurodegeneration with brain iron accumulation (NBIA),Mitochondrial membrane protein associated neurodegeneration (MPAN)
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