Annals of Nuclear Medicine

, Volume 27, Issue 3, pp 303–308 | Cite as

SPG3A-linked hereditary spastic paraplegia associated with cerebral glucose hypometabolism

  • Tatsuhiro Terada
  • Satoshi Kono
  • Yasuomi Ouchi
  • Kenichi Yoshida
  • Yasushi Hamaya
  • Shigeru Kanaoka
  • Hiroaki Miyajima
Case report

Abstract

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, there is still a debate about the etiology of this motor deficit with regard to whether it is peripheral or central. We herein report two patients who were heterozygous for a R239C mutation in the SPG3A gene. Two middle-aged Japanese sisters had been suffering from a pure phenotype of HSP since their childhood. Both patients had a significant decrease in glucose metabolism in the frontal cortex medially and dorsolaterally in a [18F]-fluorodeoxyglucose (FDG) positron emission photography (PET) study and low scores on the Frontal Assessment Battery. A real-time PCR analysis in normal subjects showed the frontal cortex to be the major location where SPG3A mRNA is expressed. The present finding that the frontal glucose hypometabolism was associated with frontal cognitive impairment indicates that widespread neuropathology associated with mutations in the SPG3A gene may be present more centrally than previously assumed.

Keywords

PET SPG3A Atlastin Frontal Assessment Battery 

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Copyright information

© The Japanese Society of Nuclear Medicine 2012

Authors and Affiliations

  • Tatsuhiro Terada
    • 1
    • 2
  • Satoshi Kono
    • 1
  • Yasuomi Ouchi
    • 2
  • Kenichi Yoshida
    • 3
  • Yasushi Hamaya
    • 3
  • Shigeru Kanaoka
    • 3
  • Hiroaki Miyajima
    • 1
  1. 1.First Department of MedicineHamamatsu University School of MedicineHamamatsuJapan
  2. 2.Laboratory of Human Brain Imaging Research, Molecular Imaging Frontier Research CenterHamamatsu University School of MedicineHamamatsuJapan
  3. 3.Department of Molecular DiagnosisHamamatsu University School of MedicineHamamatsuJapan

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