Utz K, Kohl Z, Marterstock D, Dörfler A, Winkler J, Schmidt M, Regensburger M (2022)
Publication Type: Journal article
Publication year: 2022
Book Volume: 17
Article Number: 301
Journal Issue: 1
DOI: 10.1186/s13023-022-02451-1
Background: SPG11-linked hereditary spastic paraplegia is characterized by multisystem neurodegeneration leading to a complex clinical and yet incurable phenotype of progressive spasticity and weakness. Severe cognitive symptoms are present in the majority of SPG11 patients, but a systematic and multidimensional analysis of the neuropsychological phenotype in a larger cohort is lacking. While thinning of the corpus callosum is a well-known structural hallmark observed in SPG11 patients, the neuroanatomical pattern of cortical degeneration is less understood. We here aimed to integrate neuropsychological and brain morphometric measures in SPG11. Methods: We examined the neuropsychological profile in 16 SPG11 patients using a defined neuropsychological testing battery. Long-term follow up testing was performed in 7 patients. Cortical and subcortical degeneration was analyzed using an approved, artificial intelligence based magnetic resonance imaging brain morphometry, comparing patients to established reference values and to matched controls. Results: In SPG11 patients, verbal fluency and memory as well as frontal-executive functions were severely impaired. Later disease stages were associated with a global pattern of impairments. Interestingly, reaction times correlated significantly with disease progression. Brain morphometry showed a significant reduction of cortical and subcortical parenchymal volume following a rostro-caudal gradient in SPG11. Whereas performance in memory tasks correlated with white matter damage, verbal fluency measures showed strong associations with frontal and parietal cortical volumes. Conclusions: The present data will help define neuropsychological and imaging read out parameters in early as well as in advanced clinical stages for future interventional trials in SPG11.
APA:
Utz, K., Kohl, Z., Marterstock, D., Dörfler, A., Winkler, J., Schmidt, M., & Regensburger, M. (2022). Neuropsychology and MRI correlates of neurodegeneration in SPG11 hereditary spastic paraplegia. Orphanet Journal of Rare Diseases, 17(1). https://dx.doi.org/10.1186/s13023-022-02451-1
MLA:
Utz, Kathrin, et al. "Neuropsychology and MRI correlates of neurodegeneration in SPG11 hereditary spastic paraplegia." Orphanet Journal of Rare Diseases 17.1 (2022).
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