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Article

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

BMC neurology - 30 May 2022

Wang Shan, Wang Yaye, Wu Yue, Zhang Jinru, Zhang Weilin, Li Chang, Song Xueqin

Abstract excerpt

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 emotional communication. In the Chinese population, sporadic cases of SPG7 variant-associated spastic ataxia are rarely...

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Identifiers

PMID: 35637455
DOI: 10.1186/s12883-022-02706-1
PMCID: PMC9150360

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