Abstract
Magnetic resonance spectroscopy (MRS) is a non-invasive neuroimaging technique used to investigate in vivo brain metabolites. MRS could provide a sensitive tool for the study of hereditary spastic paraplegia (HSP) by helping to unveil the underlying biochemical mechanisms and monitoring response to treatment. This focused systematic review aimed to summarize the brain metabolite findings in studies performed in genetically determined HSP. The second aim was to provide a critical analysis and recommendations for well-designed protocols for future studies. Fourteen MRS studies have been analyzed with overall 61 HSP patients, falling within a wide range of age at onset, disease duration, and age at the MRS scan, including children and adults. The genetic diagnosis included several subtypes (SPG2/3/4/5/10/11/28/31/54). SPG11 and SPG54 have been more frequently investigated. The MRS methodology included different MR field strength, not easily comparable spectra areas varying from whole brain to various cortical areas, brain stem and cerebellum sampling. No consistency in disease severity and other outcome measures was observed. The main MRS findings corresponded to the white matter metabolite abnormalities in the corticospinal tracts. In summary, this focused review provides insights on the current knowledge of brain metabolites in HSP and, in particular, in SPG11 and SPG54. Despite the inhomogeneity of the studies to date reported, brain metabolites as assessed by MRS could represent potentially useful diagnostic markers and prognostic indicators of disease progression in HSP. Specific recommendations regarding the MRS technical protocol, CNS area sampling, study design, and applicability of findings are given.
Highlights
METHODSBrain magnetic resonance spectroscopy (MRS) is a noninvasive imaging technique useful to provide quantitative measures of specific brain metabolites (1)
Martinuzzi et al (6) presented the biggest hereditary spastic paraplegia (HSP) sample investigated with MRS so far, it included a heterogeneous group of six different SPG types
Four studies reported healthy control (HC) groups undergoing the MRS scan (6, 11, 18, 20), all matching in size the HSP group
Summary
Brain magnetic resonance spectroscopy (MRS) is a noninvasive imaging technique useful to provide quantitative measures of specific brain metabolites (1). Brain MRS techniques are applied in several CNS disorders such as ischemic lesions, tumors, infections, demyelinating conditions, epilepsy, and neurodegenerative disorders with the intent to study basic physiology and disease processes and measure treatment outcomes (2). The HSP pathogenic mechanisms include myelination disorders, axonal transport and pathfinding, lipid metabolism, and mitochondrial (dys)function (5), sustained by a wide genetic heterogeneity. Given this puzzle-like picture of the HSP neuropathological mechanisms, there are many difficulties in the development of treatment options and clinical trial design. We have previously investigated the baseline intersection of diffusion tensor imaging (DTI) indexes in genetically determined HSP patients (6) and recently the longitudinal variation of the retinal nerve fiber layer thickness (7)
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