GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome.

The ears of the lynx sign is a highly specific imaging finding for SPG11 and SPG15.

Hypointensities of the basal ganglia can be seen in “neurodegeneration and brain iron accumulation” (NBIA), a group of inherited progressive neurological disorders in which iron accumulates in the basal ganglia, leading to dystonia, spasticity and parkinsonism. At least ten types and their associated genes are recognized: ATP13A2, C19ORF12, COASY, CP, DCAF17, FA2H, FTL, PANK2, PLA2G6, and WDR45. 3 However, iron accumulation has also been described in other, non-NBIA neurological diseases, such as Huntington’s disease

 

THE END
分享
二维码