A novel compound heterozygous SPG7 variant is associated with progressive spastic ataxia and persecutory delusions found in Chinese patients: two case reports

BACKGROUND: Hereditary spastic paraplegia 7 (SPG7) is one of the subtypes of autosomal-recessive hereditary spastic paraplegia, which is a clinically heterogeneous neurodegenerative disorder. SPG7 often displays a complicated phenotype, including optic atrophy, ophthalmoparesis, and impaired emotion...

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Detalles Bibliográficos
Autores principales: Wang, Shan, Wang, Yaye, Wu, Yue, Zhang, Jinru, Zhang, Weilin, Li, Chang, Song, Xueqin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9150360/
https://www.ncbi.nlm.nih.gov/pubmed/35637455
http://dx.doi.org/10.1186/s12883-022-02706-1

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