Mutations of the SPG11 gene in patients with autosomal recessive spastic paraparesis and thin corpus caffosum

Lee, M.-J.; Cheng, T.-W.; Hua, M.-S.; Pan, M.-K.; Wang, J.; Stephenson, D. A.; Yang, C.-C.
May 2008
Journal of Neurology, Neurosurgery & Psychiatry;May2008, Vol. 79 Issue 5, p607
Academic Journal
The article discusses the medical concept of hereditary spastic paraparesis (HSP) with thin corpus callosum. It is a rare autosomal recessive form of complicated HSP. The clinical phenotype is characterised by slowly progressive spastic paraparesis and cognitive impairment. The symptoms progress insidiously to severe functional disability over a period of 10- 20 years. With this, genetic and phenotypic data on five patients from two Taiwanese or Chinese families are provided.


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