Article
SPG3A-linked hereditary spastic paraplegia associated with cerebral glucose hypometabolism.
Annals of nuclear medicine - 1 Apr 2013
Terada Tatsuhiro, Kono Satoshi, Ouchi Yasuomi, Yoshida Kenichi, Hamaya Yasushi, Kanaoka Shigeru, Miyajima Hiroaki
Abstract excerpt
SPG3A-linked hereditary spastic paraplegia (HSP) is a rare autosomal dominant motor disorder caused by a mutation in the SPG3A gene, and is characterized by progressive motor weakness and spasticity in the lower limbs, without any other neurological abnormalities. SPG3A-linked HSP caused by a R239C mutation has been reported to present a pure phenotype confined to impairment of the corticospinal tract. However,...
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