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 journalArticlepeer-review

11 Citations (Scopus)


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
Issue number5
Publication statusPublished - May 2013
Externally publishedYes

ASJC Scopus subject areas

  • Clinical Neurology
  • Radiology Nuclear Medicine and imaging


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