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A novel variant (p.A524P) in Spastin is responsible for a Chinese family with hereditary spastic paraplegia.

Molecular biology reports - 4 Sept 2024

Jin Yu-Han, Xiang Yang-Ziyu, Zhao Mei-Fang, Liu Yi-Hui, Fan Liang-Liang, Li Xiao-Cong

Abstract excerpt

BACKGROUND: Hereditary spastic paraplegia (HSP) represents a group of monogenic neurodegenerative disorders characterized by high clinical and genetic heterogeneity. HSP is characterized by slowly progressing hypertonia of both lower extremities, spastic gait, and myasthenia. The most prevalent autosomal dominant form of HSP, known as spastic paraplegia 4 (SPG4), is attributed to variants in the spastin (SPAST)...

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China
East Asian People
Exome Sequencing
Mutation
Paraplegia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Spastic Paraplegia, Hereditary

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PMID: 39230614
DOI: 10.1007/s11033-024-09880-0

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