Microstructural integrity of cerebral fiber tracts in hereditary spastic paraparesis with SPG11 mutation

M. K. Pan, Su-Chun Huang, Yu-Chun Lo, Chih Chao Yang, Ting-Wen Cheng, Chi Cheng Yang, M. S. Hua, Ming Jen Lee, Wen Yih Isaac Tseng

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

BACKGROUND AND PURPOSE: ARHSP-TCC is characterized by progressive leg spasticity, ataxia, and cognitive dysfunction. Although mutations in the human SPG11 gene were identified as responsible for ARHSP-TCC, the cerebral fiber integrity has not been assessed systemically. The objective of this study was to assess cerebral fiber integrity and its clinical significance in patients with ARHSP-TCC. MATERIALS AND METHODS: Five patients from 2 families who were clinically and genetically confirmed to have ARHSP-TCC were examined by neuropsychological evaluation and DSI of the brain. We performed voxel-based GFA analysis for global white matter evaluation, tractography-based analysis for tract-to-tract comparisons, and tract-specific analysis of the CST to evaluate microstructural integrity along the axonal direction. RESULTS: The neuropsychological evaluation revealed widespread cognitive decline across all domains. Voxel-based analysis showed global reduction of GFA in the cerebral white matter. Tractography-based analysis revealed a significant reduction of the microstructural integrity in all neural fiber types, while commissure and association fibers had more GFA reduction than projection fibers (P < .00001). Prefrontal and motor portions of the CC were most severely affected among all fiber tracts (P < .00001, P = .018). Tract-specific analysis of the CST validated a "dying-back" phenomenon (R2 = 0.68, P < .00001). CONCLUSIONS: There was a characteristic gradation in the reduction of microstructural integrity among fiber types and within the CC in patients with the SPG11 mutation. The dying-back process in CST might explain the pathogenic mechanisms for ARHSP-TCC.

Original languageEnglish
Pages (from-to)990-996
Number of pages7
JournalAmerican Journal of Neuroradiology
Volume34
Issue number5
DOIs
Publication statusPublished - May 2013
Externally publishedYes

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Spastic Paraparesis
Mutation
Ataxia
Leg
Brain
Genes
Cognitive Dysfunction
White Matter

ASJC Scopus subject areas

  • Clinical Neurology
  • Radiology Nuclear Medicine and imaging

Cite this

Microstructural integrity of cerebral fiber tracts in hereditary spastic paraparesis with SPG11 mutation. / Pan, M. K.; Huang, Su-Chun; Lo, Yu-Chun; Yang, Chih Chao; Cheng, Ting-Wen; Yang, Chi Cheng; Hua, M. S.; Lee, Ming Jen; Tseng, Wen Yih Isaac.

In: American Journal of Neuroradiology, Vol. 34, No. 5, 05.2013, p. 990-996.

Research output: Contribution to journalArticle

Pan, MK, Huang, S-C, Lo, Y-C, Yang, CC, Cheng, T-W, Yang, CC, Hua, MS, Lee, MJ & Tseng, WYI 2013, 'Microstructural integrity of cerebral fiber tracts in hereditary spastic paraparesis with SPG11 mutation', American Journal of Neuroradiology, vol. 34, no. 5, pp. 990-996. https://doi.org/10.3174/ajnr.A3330
Pan, M. K. ; Huang, Su-Chun ; Lo, Yu-Chun ; Yang, Chih Chao ; Cheng, Ting-Wen ; Yang, Chi Cheng ; Hua, M. S. ; Lee, Ming Jen ; Tseng, Wen Yih Isaac. / Microstructural integrity of cerebral fiber tracts in hereditary spastic paraparesis with SPG11 mutation. In: American Journal of Neuroradiology. 2013 ; Vol. 34, No. 5. pp. 990-996.
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AU - Pan, M. K.

AU - Huang, Su-Chun

AU - Lo, Yu-Chun

AU - Yang, Chih Chao

AU - Cheng, Ting-Wen

AU - Yang, Chi Cheng

AU - Hua, M. S.

AU - Lee, Ming Jen

AU - Tseng, Wen Yih Isaac

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N2 - BACKGROUND AND PURPOSE: ARHSP-TCC is characterized by progressive leg spasticity, ataxia, and cognitive dysfunction. Although mutations in the human SPG11 gene were identified as responsible for ARHSP-TCC, the cerebral fiber integrity has not been assessed systemically. The objective of this study was to assess cerebral fiber integrity and its clinical significance in patients with ARHSP-TCC. MATERIALS AND METHODS: Five patients from 2 families who were clinically and genetically confirmed to have ARHSP-TCC were examined by neuropsychological evaluation and DSI of the brain. We performed voxel-based GFA analysis for global white matter evaluation, tractography-based analysis for tract-to-tract comparisons, and tract-specific analysis of the CST to evaluate microstructural integrity along the axonal direction. RESULTS: The neuropsychological evaluation revealed widespread cognitive decline across all domains. Voxel-based analysis showed global reduction of GFA in the cerebral white matter. Tractography-based analysis revealed a significant reduction of the microstructural integrity in all neural fiber types, while commissure and association fibers had more GFA reduction than projection fibers (P < .00001). Prefrontal and motor portions of the CC were most severely affected among all fiber tracts (P < .00001, P = .018). Tract-specific analysis of the CST validated a "dying-back" phenomenon (R2 = 0.68, P < .00001). CONCLUSIONS: There was a characteristic gradation in the reduction of microstructural integrity among fiber types and within the CC in patients with the SPG11 mutation. The dying-back process in CST might explain the pathogenic mechanisms for ARHSP-TCC.

AB - BACKGROUND AND PURPOSE: ARHSP-TCC is characterized by progressive leg spasticity, ataxia, and cognitive dysfunction. Although mutations in the human SPG11 gene were identified as responsible for ARHSP-TCC, the cerebral fiber integrity has not been assessed systemically. The objective of this study was to assess cerebral fiber integrity and its clinical significance in patients with ARHSP-TCC. MATERIALS AND METHODS: Five patients from 2 families who were clinically and genetically confirmed to have ARHSP-TCC were examined by neuropsychological evaluation and DSI of the brain. We performed voxel-based GFA analysis for global white matter evaluation, tractography-based analysis for tract-to-tract comparisons, and tract-specific analysis of the CST to evaluate microstructural integrity along the axonal direction. RESULTS: The neuropsychological evaluation revealed widespread cognitive decline across all domains. Voxel-based analysis showed global reduction of GFA in the cerebral white matter. Tractography-based analysis revealed a significant reduction of the microstructural integrity in all neural fiber types, while commissure and association fibers had more GFA reduction than projection fibers (P < .00001). Prefrontal and motor portions of the CC were most severely affected among all fiber tracts (P < .00001, P = .018). Tract-specific analysis of the CST validated a "dying-back" phenomenon (R2 = 0.68, P < .00001). CONCLUSIONS: There was a characteristic gradation in the reduction of microstructural integrity among fiber types and within the CC in patients with the SPG11 mutation. The dying-back process in CST might explain the pathogenic mechanisms for ARHSP-TCC.

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