Pyrroline-5-carboxylate reductase 2 (PYCR2) deficiency causes hereditary spastic paraplaegia in late childhood

Gunes Sager,Ayberk Türkyilmaz,Hediye Pınar Günbey,İbrahim Taş,Fatih Ozhelvaci,Yasemin Akin

European Journal of Paediatric Neurology（2023）

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摘要

•PYCR2 gene variants can cause Hereditary Spastic Paraplegia (SPG) in the late childhood period.•Normal Brain MRI can de seen in PYCR2 gene variants although they are associated with hypomyelinating leukodystrophy type 10.•MR spectroscopy findings are helpful for diagnosis.

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hereditary spastic paraplaegia,deficiency

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