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Article

Mutation and clinical characteristics of autosomal-dominant hereditary spastic paraplegias in China.

Neuro-degenerative diseases - 1 Jan 2014

Luo Yingying, Chen Chong, Zhan Zixiong, Wang Yinguang, Du Juan, Hu Zhaoting, Liao Xinxin, Zhao Guohua, Wang Junling, Yan Xinxiang, Jiang Hong, Pan Qian, Xia Kun, Tang Beisha, Shen Lu

Abstract excerpt

BACKGROUND: Hereditary spastic paraplegias constitute a heterogeneous group of inherited neurodegenerative disorders. To date, there has been no systematic mutation and clinical analysis for a large group of autosomal-dominant hereditary spastic paraplegias in China. OBJECTIVE: The purpose of this study was to investigate the mutation frequencies and the clinical phenotypes of Chinese spastic paraplegia patients....

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China
SPAST gene
Genotype
Mutation
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Spastic Paraplegia, Hereditary

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Identifiers

PMID: 25341883
DOI: 10.1159/000365513

Genes

SPAST
REEP1
ATL1
HSPD1
NIPA1

Variants

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