A novel truncated variant in SPAST results in spastin accumulation and defects in microtubule dynamics.

"Declarations Ethics approval and consent to participateThe study was approved by the Ethics Review Committee of Inner Mongolia Maternity and Child Health Care Hospital (approval number: 2020-018-1) according to the Declaration of Helsinki. All patients, parents or legal guardians signed an informed consent for sample collection. All methods were carried out in accordance with relevant guidelines and regulations. Consent for publicationNot applicable. Competing interestsThe authors declare no competing interests. Competing interests The authors declare no competing interests."

"Funding This work was supported by the Key Technology Research Plan Project of Inner Mongolia Autonomous Region (2021GG0153 to HY), Key Technology Research Plan Project of Inner Mongolia Autonomous Region (2021GG0130 to XW), The Inner Mongolia Grassland Talent, Healthcare Science and Technology Plan Project of Inner Mongolia Health Commission (202201138), Youth innovation Program of Inner Mongolia Maternity and Child Health Care Hospital(2023FYYNB001)."