Structural and metabolic damage in brains of patients with SPG11-related spastic paraplegia as detected by quantitative MRI

Maria Laura Stromillo, Alessandro Malandrini, Maria Teresa Dotti, Marco Battaglini, Federico Borgogni, Alessandra Tessa, Eugenia Storti, Paola S. Denora, Filippo Maria Santorelli, Carmen Gaudiano, Carla Battisti, Antonio Federico, Nicola D E Stefano

Research output: Contribution to journalArticlepeer-review

Abstract

The goal of this work was to assess brain structural and metabolic abnormalities of subjects with SPG11 and their relevance to clinical disability by using quantitative magnetic resonance (MR) metrics. Autosomal recessive hereditary spastic paraplegia (AR-HSP) with thin corpus callosum and cognitive decline is a complex neurological disorder caused by mutations in the SPG11 gene in most cases. Little is known about the process leading to corticospinal and white matter degeneration. We performed conventional MRI/MR spectroscopic imaging (1H-MRSI) examinations in 10 HSP patients carrying an SPG11 mutation and in 10 demographically matched healthy controls (HC). We measured in each subject cerebral white matter hyperintensities (WMHs), normalized global and cortical brain volumes, and 1H-MRSI-derived central brain levels of N-acetylaspartate (NAA) and choline (Cho) normalized to creatine (Cr). Clinical disability was assessed according to patients' autonomy in walking. Conventional MRI showed WMHs in all patients. Global brain volumes were lower in patients than in HC (p\0.001). Decreased values were diffusely found also in cortical regions (p\0.01). On 1H-MRSI, NAA/Cr values were lower in SPG11 patients than in HC (p = 0.002). Cho/Cr values did not differ between patients and HC. Cerebral volume decreases and NAA/Cr in the corona radiata correlated closely with increasing disability scores (p\0.05). Quantitative MR measures propose that widespread structural and metabolic brain damage occur in SPG11 patients. The correlation of these MR metrics with measures of patients' disease severity suggests that they might represent adequate surrogate markers of disease outcome.

Original languageEnglish
Pages (from-to)2240-2247
Number of pages8
JournalJournal of Neurology
Volume258
Issue number12
DOIs
Publication statusPublished - Dec 2011

Keywords

  • Axonal damage
  • Brain atrophy
  • Magnetic resonance
  • Spastic paraplegia with thin corpus callosum
  • Spectroscopy
  • SPG11

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

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