Article
Cognitive profile in spastic paraplegia with thin corpus callosum and mutations in SPG11.
Neuropediatrics - 1 Feb 2010
Siri L, Battaglia F M, Tessa A, Rossi A, Rocco M Di, Facchinetti S, Mascaretti M, Santorelli F M, Veneselli E, Biancheri R
Abstract excerpt
Autosomal recessive hereditary spastic paraplegia with thinning of the anterior corpus callosum (ARHSP-TCC) due to mutations in SPG11 on chromosome 15q (MIM610844) is the single most common cause of ARHSP. It is characterized by slowly progressive paraparesis and peripheral neuropathy. Although cognitive impairment, sometimes diagnosed as mental retardation, is an almost invariable feature, the extent and...
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