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Article

More autosomal dominant SPG18 cases than recessive? The first AD-SPG18 pedigree in Chinese and literature review.

Brain and behavior - 1 Dec 2021

Chen Shuai, Zou Jin-Long, He Shuang, Li Wei, Zhang Jie-Wen, Li Shu-Jian

Abstract excerpt

OBJECTIVE: Hereditary spastic paraplegia (HSP) due to ERLIN2 gene mutations was designated as spastic paraplegia 18 (SPG18). To date, SPG18 families/cases are still rarely reported. All early reported cases shared the autosomal recessive (AR) inheritance pattern. Over the past 3 years, autosomal dominant (AD) or sporadic SPG18 cases had been continuously reported. Here, we reported the clinical and genetic...

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Identifiers

PMID: 34734492
DOI: 10.1002/brb3.2395
PMCID: PMC8671789

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