Cargando…
Cortical Damage Associated With Cognitive and Motor Impairment in Hereditary Spastic Paraplegia: Evidence of a Novel SPAST Mutation
To determine the cortical mechanism that underlies the cognitive impairment and motor disability in hereditary spastic paraplegia (HSP), nine HSP patients from a Chinese family were examined using clinical evaluation, cognitive screening, and genetic testing. Controls were matched healthy subjects....
Autores principales: | Lin, Jian-zhong, Zheng, Hong-hua, Ma, Qi-lin, Wang, Chen, Fan, Li-ping, Wu, Han-ming, Wang, Dan-ni, Zhang, Jia-xing, Zhan, Yi-hong |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7267220/ https://www.ncbi.nlm.nih.gov/pubmed/32536902 http://dx.doi.org/10.3389/fneur.2020.00399 |
Ejemplares similares
-
A novel truncating variant of SPAST associated with hereditary spastic paraplegia indicates a haploinsufficiency pathogenic mechanism
por: Nan, Haitian, et al.
Publicado: (2022) -
Therapeutic Strategies for Mutant SPAST-Based Hereditary Spastic Paraplegia
por: Mohan, Neha, et al.
Publicado: (2021) -
Reduced acetylated α-tubulin in SPAST hereditary spastic paraplegia patient PBMCs
por: Wali, Gautam, et al.
Publicado: (2023) -
Mutation analysis of SPAST, ATL1, and REEP1 in Korean Patients with Hereditary Spastic Paraplegia
por: Kim, Tae-Hyoung, et al.
Publicado: (2014) -
A patient-derived stem cell model of hereditary spastic paraplegia with SPAST mutations
por: Abrahamsen, Greger, et al.
Publicado: (2013)