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Article

High frequency of SPG4 in Taiwanese families with autosomal dominant hereditary spastic paraplegia.

BMC neurology - 25 Nov 2014

Lan Min-Yu, Chang Yung-Yee, Yeh Tu-Hseuh, Lai Szu-Chia, Liou Chia-Wei, Kuo Hung-Chou, Wu Yih-Ru, Lyu Rong-Kuo, Hung Jen-Wen, Chang Ying-Chao, Lu Chin-Song

Abstract excerpt

BACKGROUND: Hereditary spastic paraplegias (HSPs) are a group of neurodegenerative diseases characterized by progressive spasticity and weakness of the lower limbs. SPG4, SPG3A and SPG31 are the three leading causes of autosomal dominant (AD) HSPs. METHODS: A total of 20 unrelated AD-HSP families were recruited for clinical and genetic assessment. Detection of mutations in SPG4, SPG3A and SPG31 genes was...

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Identifiers

PMID: 25421405
DOI: 10.1186/s12883-014-0216-x
PMCID: PMC4254010

Genes

SPAST

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