Article
New phenotype of RTN2-related spectrum: Complicated form of spastic paraplegia-12.
Annals of clinical and translational neurology - 1 Aug 2022
Tian Wotu, Zheng Haoran, Zhu Zeyu, Zhang Chao, Luan Xinghua, Cao Li
Abstract excerpt
OBJECTIVE: Spastic paraplegia-12 (SPG12) is a subtype of hereditary spastic paraplegia caused by Reticulon-2 (RTN2) mutations. We described the clinical and genetic features of three SPG12 patients, functionally explored the potential pathogenic mechanism of RTN2 mutations, and reviewed RTN2-related cases worldwide. METHODS: The three patients were 31, 36, and 50 years old, respectively, with chronic progressive...
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