Clinical features and molecular genetic investigation of infantile-onset ascending hereditary spastic paralysis (IAHSP) in two Chinese siblings caused by a novel splice site ALS2 variation

• Asıl Yazarlar: Qiang Zhang (Yazar), Qi Yang (Yazar), Jingsi Luo (Yazar), Xunzhao Zhou (Yazar), Shang Yi (Yazar), Shuyin Tan (Yazar), Zailong Qin (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: BMC, 2024-01-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

Abstract Objective ALS2-related disorder involves retrograde degeneration of the upper motor neurons of the pyramidal tracts, among which autosomal recessive Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a rare phenotype. In this study, we gathered clinical data from two Chinese...