Dementia and Neurocognitive Disorders (대한치매학회지)

Korean Dementia Association (대한치매학회)
권호 표지

Hereditary Spastic Paraplegia with Thin Corpus Callosum and SPG 11 Gene Mutation

SPG 11 유전자 돌연변이를 보인 얇은 뇌량을 동반한 강직성 하지마비

  • Chang, YoungHee (Department of Neurology, Seoul National University College of Medicine, Seoul National University Bundang Hospital) ;
  • Baek, Min Jae (Department of Neurology, Seoul National University College of Medicine, Seoul National University Bundang Hospital) ;
  • Kim, SangYun (Department of Neurology, Seoul National University College of Medicine, Seoul National University Bundang Hospital)
  • 장영희 (서울대학교 의과대학 신경과학교실, 분당서울대학교병원 신경과) ;
  • 백민재 (서울대학교 의과대학 신경과학교실, 분당서울대학교병원 신경과) ;
  • 김상윤 (서울대학교 의과대학 신경과학교실, 분당서울대학교병원 신경과)
  • Published : 2011.03.31
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Abstract

Hereditary spastic paraplegia (HSP) with thin corpus callosum (TCC) is an autosomal recessive form of complicated HSP mainly characterized by slowly progressive spastic paraparesis and mental deterioration beginning in the second decade of life. We report one HSP with TCC patient. MRI shows thin corpus callosum and abnormal signal in the region of the forceps minor. He had decreased bilateral thalamic metabolism on $_{18}F$-flurodeoxyglucose PET. The neuropsychological test profile showed global cognitive impairment. We identified mutation of Spastic Paraparesis Gene 11 (SPG11) gene, was mapped to chromosome 15q13-15.

Keywords

References

  1. Fink JK. Hereditary spastic paraplegia. Neurol Clin 2002; 20: 711-6. https://doi.org/10.1016/S0733-8619(02)00007-5
  2. Nakamura A, Izumi K, Umehara F, Kuriyama M, Hokezu Y, Nakagawa M, et al. Familial spastic paraplegia with mental impairment and thin corpus callosum. J Neurol Sci 1995; 131: 35-42. https://doi.org/10.1016/0022-510X(95)00028-Z
  3. Lee JH, Park YE, Choi KD, Park KP, Kim DS, Jung DS, et al. Complicated spastic paraparesis with thin corpus callosum. J Korean Neurol Assoc 2004; 22: 402-5.
  4. Lossos A, Stevanin G, Meiner V, Argov Z, Bouslam N, Newman JP. Hereditary spastic paraplegia with thin corpus callosum. Arch Neurol 2006; 63: 756-60. https://doi.org/10.1001/archneur.63.5.756
  5. Stevanin G, Azzedine H, Denora P, Boukhris A, Tazir M, Lossos A, et al. Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. Brain 2008; 131: 772-84. https://doi.org/10.1093/brain/awm293
  6. Samaranch L, Riverol M, Masdeu JC, Lorenzo E, Vidal-Taboada JM, Irigoyen J, et al. SPG11 compound mutations in spastic paraparesis with thin corpus callosum. Neurology 2008; 71: 332-6. https://doi.org/10.1212/01.wnl.0000319646.23052.d1
  7. Shibasaki Y, Tanaka H, Iwabuchi K, Kawasaki S, Kondo H, Uekawa K, et al. Linkage of autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum to chromosome 15A13-15. Ann Neurol 2000; 48: 108-12. https://doi.org/10.1002/1531-8249(200007)48:1<108::AID-ANA17>3.0.CO;2-A
  8. Katayama T, Sakamoto N, Kuroda K, Yahara O, Ugawa Y. A case of spastic paraparesis with mental deterioration and markedly thin corpus callosum callosal dysfunction demonstrated by magnetic stimulation. Rinsho Shinkeigaku 1998; 38: 418-22.
  9. Wakabayashi K, Koyobashi H, Kawakai S, Kondo H, Takahashi H. Autosomal recessive spastic paraplegia with hypoplastic corpus callosum, multisystem degeneration and ubiquitinated eosinophilic granules. Acta Neuropathol (Berl) 2001; 101: 69-73.
  10. Riverol M, Samaranch L, Pascual B, Pastor P, Irigoyen J, Pastor MA, et al. Forceps minor region signal abnormality "ears of the lynx": an early MRI finding in spastic paraparesis with thin corpus callosum and mutations in the spatacsin gene (SPG11) on chromosome 15. J Neuroimaging 2009; 19: 52-60. https://doi.org/10.1111/j.1552-6569.2008.00327.x
  11. Siri1 L, Battaglia FM, Tessa A, Rossi A, Rocco MD, Facchinetti S, et al. Cognitive profile in spastic paraplegia with thin corpus callosum and mutations in SPG11. Neuropediatrics 2010; 41: 35-8. https://doi.org/10.1055/s-0030-1253352