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

• मुख्य लेखकों: Qiang Zhang (लेखक), Qi Yang (लेखक), Jingsi Luo (लेखक), Xunzhao Zhou (लेखक), Shang Yi (लेखक), Shuyin Tan (लेखक), Zailong Qin (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2024-01-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...