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Article

Novel deletion of SPAST in a Chinese family with hereditary spastic paraplegia.

Singapore medical journal - 1 May 2013

Feng Yapei, Ke Xin, Zhai Meng, Xin Qian, Gong Yaoqin, Liu Qiji

Abstract excerpt

INTRODUCTION: Hereditary spastic paraplegia (HSP) belongs to a large, heterogeneous group of progressive neurodegenerative diseases characterised by progressive lower extremity weakness and spasticity, which is caused by developmental failure or degeneration of motor axons in the corticospinal tract. Classical genetic studies have identified at least 46 genetic loci responsible for HSP. METHODS: A genetic study...

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PMID: 23716148
DOI: 10.11622/smedj.2013102

Genes

SPAST

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